bluuebunny/crossref_metadata_2025 huggingface dataset:
Characteristic phasic evolution of convulsive seizure in PCDH19‐related epilepsy
Authors: Ikeda Hiroko , Imai Katsumi , Ikeda Hitoshi , Shigematsu Hideo , Takahashi Yukitoshi , Inoue Yushi , Higurashi Norimichi , Hirose Shinichi
Published: August 2019

PCDH19‐related epilepsy is a genetic disorder that was first described in 1971, then referred to as “epilepsy and mental retardation limited to females”. PCDH19 has recently been identified as the responsible gene, but a detailed characterization of the seizure manifestation based on video‐EEG recording is still limited. The purpose of this study was to elucidate features of the seizure semiology in children with PCDH19‐related epilepsy. To do this, ictal video‐EEG recordings of 26 convulsive seizures in three girls with PCDH19‐related epilepsy were analysed. All seizures occurred in clusters, mainly during sleep accompanied by fever. The motor manifestations consisted of six sequential phases: “jerk”, “reactive”, “mild tonic”, “fluttering”, “mild clonic”, and “postictal”. Some phases were brief or lacking in some seizures, whereas others were long or pronounced. In the reactive phase, the patients looked fearful or startled with sudden jerks and turned over reactively. The tonic and clonic components were less intense compared with those of typical tonic‐clonic seizures in other types of epilepsy. The fluttering phase was characterised initially by asymmetric, less rhythmic, and less synchronous tremulous movement and was then followed by the subtle clonic phase. Subtle oral automatism was observed in the postictal phase. The reactive, mild tonic, fluttering and mild clonic phases were most characteristic of seizures of PCDH19‐related epilepsy. Ictal EEG started bilaterally and was symmetric in some patients but asymmetric in others. It showed asymmetric rhythmic discharges in some seizures at later phases. The electroclinical pattern of the phasic evolution of convulsive seizure suggests a focal onset seizure with secondary generalisation. Based on our findings, we propose that the six unique sequential phases in convulsive seizures suggest the diagnosis of PCDH19‐related epilepsy when occurring in clusters with or without high fever in girls. [Published with video sequences online]
Deterioration of dyslexia after non‐dominant temporal lobectomy for drug‐resistant epilepsy
Authors: Haeren Roel H.L. , Hendriks Marc P.H. , Vlooswijk Marielle , Verdyck Lex , van Kranen‐Mastenbroek Vivianne H.J.M. , Wagner Louis , van Benthum Sophie , Schijns Olaf E.M.G.
Published: August 2019

We present a patient with drug‐resistant right‐sided temporal lobe epilepsy, caused by a ganglioglioma of the parahippocampal gyrus. Preoperatively, the patient was also known to have dyslexia. A right‐sided anterior temporal lobectomy, including complete lesionectomy, was performed. Several months after the otherwise uncomplicated procedure, the patient complained about visual memory disturbances, accompanied by increased reading and spelling problems. Postoperative neuropsychological examination revealed deterioration of the visual memory functions, compared to the preoperative assessment, and consequently provided a possible explanation for worsening of the pre‐existing dyslexia. In this case report, we hypothesize on the cause of this unusual deterioration and present recommendations to be included in the preoperative epilepsy surgery evaluation for patients with verbal or reading disorders such as dyslexia.
A 16‐year‐old girl with focal seizures and impaired awareness: divergent non‐invasive data related to a diffuse epileptogenic network
Authors: Russo Angelo , Jayakar Prasanna , Miller Ian , Bhatia Sanjiv , Duchowny Michael
Published: August 2019

We describe a patient with medically refractory focal epilepsy who presented with divergent non‐invasive data, with MRI revealing hippocampal sclerosis and EEG indicating involvement of the occipital lobe. A localized corticectomy over the occipital convexity was performed based on intracranial EEG recording. The patient was seizure‐free after four years of follow‐up. Electroclinical hypotheses and challenges of defining the epileptogenic network are discussed.
An audit of the predictors of outcome in status epilepticus from a resource‐poor country: a comparison with developed countries
Authors: Hassan Haseeb , Rajiv Keni Ravish , Menon Ramshekhar , Menon Deepak , Nair Muralidharan , Radhakrishnan Ashalatha
Published: August 2019

Aim. Status epilepticus is a neurological emergency with significant morbidity and mortality. This study describes the clinical profile, treatment, and predictors of outcome of status epilepticus in a tertiary referral centre in a developing country and aims to highlight the similarities and differences from data available from the western world.

Methods. A retrospective analysis of data of patients treated for status epilepticus was conducted from prospectively maintained records, between January 2000 and September 2010. The demographic data, clinical profile and investigations (including neuroimaging and EEG), aetiology, treatment, and outcomes were studied and compared with data available from the western world.

Results. The analysis included 108 events in 84 patients. A single episode of status epilepticus was treated in 72 patients (86%) and multiple status epilepticus events, ranging from two to six per patient, were managed in 12 patients (14%). Mean age was 24.1±20.3 years and 63% were males. The types of status epilepticus included convulsive status in 98 (90.7%), non‐convulsive status in seven (6.5%), and myoclonic status in three (2.8%). The majority of events (60%) were remote symptomatic, 16% were acute symptomatic, 16% were of unexplained aetiology, and 8% were progressive symptomatic. In 85 events (79%), status epilepticus could be aborted with first and second‐line drugs. The remaining 23 events (21%) progressed to refractory status epilepticus, among which, 13 (56%) were controlled with continuous intravenous midazolam infusion. Case fatality rate was 11%, neurological sequelae were reported in 22%, and 67% returned to baseline. Acute symptomatic status, older age, altered sensorium at the time of admission, and delayed hospitalisation were predictors of poor outcome.

Conclusions. Aetiology was the most important determinant of outcome of status epilepticus, as in reports from the western world, with remote symptomatic aetiology secondary to gliosis being the most common. Treatment delay was frequent and adversely affected the outcome.
GOSR2: a progressive myoclonus epilepsy gene
Authors: Dibbens Leanne M. , Rubboli Guido
Published: August 2019

GOSR2‐associated PME is associated with a homozygous mutation in GOSR2 (c.430G>T, p.Gly144Trp), a Golgi vesicle transport gene. The functional effect of this mutation is a loss of function that results in failure of the GOSR2 protein to localize to the cis‐Golgi. The main clinical features of the GOSR2‐associated PME are early‐onset ataxia, areflexia, action myoclonus and seizures, scoliosis, elevated creatine kinase levels, relative preservation of cognitive function until the late stages of the disease, and relentless disease course. Severe photosensitive myoclonus is a common feature. GOSR2‐associated PME is a rare disease with very few cases reported so far and it can be expected that the identification of further patients will contribute to expanding the phenotype and genotype of this condition.
Spinal muscular atrophy associated with progressive myoclonus epilepsy
Authors: Topaloglu Haluk , Melki Judith
Published: August 2019

A rare syndrome characterized by lower motor neuron disease associated with progressive myoclonic epilepsy, referred to as “spinal muscular atrophy associated with progressive myoclonic epilepsy” (SMA‐PME), has been described in childhood and is inherited as an autosomal recessive trait. SMA‐PME is caused by mutation in the ASAH1 gene encoding acid ceramidase. Ceramide and the metabolites participate in various cellular events as lipid mediators. The catabolism of ceramide in mammals occurs in lysosomes through the activity of ceramidase. Three different ceramidases (acid, neutral and alkaline) have been identified and appear to play distinct roles in sphingolipid metabolism. The enzymatic activity of acid ceramidase is deficient in two rare inherited disorders; Farber disease and SMA‐PME. Farber disease is a very rare and severe autosomal recessive condition with a distinct clinical phenotype. The marked difference in disease manifestations may explain why Farber and SMA‐PME diseases were not previously suspected to be allelic conditions. The precise molecular mechanism underlying the phenotypic differences remains to be clarified. Recently, a condition with mutation in CERS1, the gene encoding ceramide synthase 1, has been identified as a novel form of PME. This finding underlies the essential role of enzymes regulating either the synthesis (CERS1) or degradation (ASAH1) of ceramide, and the link between defects in ceramide metabolism and PME.
Myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK) is caused by heterozygous KCNC1 mutations
Authors: Nascimento Fábio A. , Andrade Danielle M.
Published: August 2019

Progressive myoclonus epilepsy (PME) is a distinct group of seizure disorders characterized by gradual neurological decline with ataxia, myoclonus and recurring seizures. There are several forms of PME, among which the most recently described is MEAK ‐ myoclonus epilepsy and ataxia due to potassium channel mutation. This particular subtype is caused by a recurrent de novo heterozygous mutation (c.959G>A, p.Arg320His) in the KCNC1 gene, which maps to chromosome 11 and encodes for the Kv3.1 protein (a subunit of the Kv3 subfamily of voltage‐gated potassium channels). Loss of Kv3 function disrupts the firing properties of fast‐spiking neurons, affects neurotransmitter release and induces cell death. Specifically regarding Kv3.1 malfunctioning, the most affected neurons include inhibitory GABAergic interneurons and cerebellar neurons. Impairment of the former cells is believed to contribute to myoclonus and seizures, whereas dysfunction of the latter to ataxia and tremor. Phenotypically, MEAK patients generally have a normal early development. At the age of 6 to 14 years, they present with myoclonus, which tends to progressively worsen with time. Tonic‐clonic seizures may or may not be present, and some patients develop mild cognitive impairment following seizure onset. Typical electroencephalographic features comprise generalized epileptiform discharges and, in some cases, photosensitivity. Brain imaging is either normal or shows cerebellar atrophy. The identification of MEAK has both expanded the phenotypic and genotypic spectra of PME and established an emerging role for de novo mutations in PME.
Psychogenic non‐epileptic seizures
Authors: Doss Robert C. , LaFrance W. Curt
Published: August 2019

Psychogenic non‐epileptic seizures (PNES) are diagnosed in at least 10–40% of the patients seen for long‐term monitoring of epilepsy, and it is no surprise that patients with PNES are often treated for epilepsy. Given the substantial economic costs and mental health burden of misdiagnosis, it is imperative to establish early identification, correct diagnosis, and effective treatment of PNES in order to provide the greatest opportunity for remission of events, improved psychological functioning, and social‐vocational outcome. This article outlines an informed, practical approach to diagnosing this common condition and provides a summary of factors, based on medical history and semiology, that may suggest PNES. We discuss also the issues of communicating the diagnosis to the patient and making treatment recommendations which should ideally be coordinated using a multi‐disciplinary team approach, involving the disciplines of neurology, psychiatry, psychology, social work, and nursing.
Drug‐resistant epilepsy after treatment for childhood acute lymphocytic leukaemia: from focal epilepsy to Lennox‐Gastaut syndrome
Authors: González‐Otárula Karina A. , Álvarez Blanca Mercedes , Dubeau François
Published: August 2019

Drug‐resistant epilepsy, not associated with acute brain complications or central nervous system leukaemic involvement, can develop in patients treated for acute lymphocytic leukaemia during childhood. It has been postulated that this rare complication may be due to CNS oncological treatment neurotoxicity, related to intrathecal drugs, such as methotrexate, and brain radiotherapy. We report four patients who developed drug‐resistant epilepsy sometime after receiving treatment for acute lymphocytic leukaemia. All patients were female and received intrathecal methotrexate. One received additional intrathecal cytarabine, and two concomitant brain radiotherapy. Two developed Lennox‐Gastaut type syndrome, one multifocal epilepsy, and one focal epilepsy related to a radiotherapy‐induced cavernous angioma. The development of drug‐resistant epilepsy after treatment for acute lymphocytic leukaemia is a rare complication that may vary, from focal epilepsy to an epileptic encephalopathy. This may appear even years after the treatment has finished and is most likely associated with treatment‐related neurotoxicity.
Auditory seizures in autoimmune epilepsy: a case with anti‐thyroid antibodies
Authors: Varrasi Claudia , Vecchio Domizia , Magistrelli Luca , Strigaro Gionata , Tassi Laura , Cantello Roberto
Published: August 2019

In its classic presentation, Hashimoto's encephalopathy is an acute‐subacute complex neuropsychiatric syndrome with cognitive impairment, hallucinations, myoclonus, tremor or ataxia, associated with elevated anti‐thyroid antibodies. Corticoids and immunotherapy are dramatically effective. However, in some cases, not all the associated features are presented and this delays diagnosis and appropriate treatment. We describe a man with abrupt onset of recurrent auditory seizures resulting in refractory non‐convulsive status epilepticus. The patient was diagnosed with an autoimmune encephalopathy with elevated serum and CSF anti‐thyroid antibodies. None of the antiepileptic drugs were successful, however, following immune‐modulating therapy, the refractory non‐convulsive status epilepticus dramatically improved, as did the patient overall. We suggest that Hashimoto's encephalopathy should be suspected in otherwise healthy patients with unexplained new‐onset focal recurrent auditory seizures which do not respond to antiepileptic drugs. The presence of anti‐thyroid antibodies in the CSF supports this diagnosis.
De novo 8p23.1 deletion in a patient with absence epilepsy
Authors: Akcakaya Nihan Hande , Capan Özlem Yalcin , Schulz Herbert , Sander Thomas , Caglayan Server Hande , Yapıcı Zuhal
Published: August 2019

The 8p23.1 deletion syndrome is a rare multisystem disorder with high penetrance and a variable phenotypic spectrum that includes congenital heart disease (CHD), intellectual disability, behavioural problems, microcephalia, and sometimes epilepsy. Genomic copy number variations (CNVs) constitute an important genetic risk factor for common genetic generalised epilepsy syndromes (GGEs) and absence seizures. These variations, resulting either from copy loss (microdeletion) or copy gain (duplications), disrupt genes associated with neuronal development. Herein, we report an epilepsy patient who was affected by developmental delay, microcephalia, behavioural problems, CHD, and childhood‐onset absence seizures. The patient had a 4‐Mb de novo microdeletion at 8p23.1. Some of the genes in this region, particularly XKR6 and MIR597, may be involved in the pathogenesis of absence seizures, suggesting that epilepsy may possibly be part of the phenotypic spectrum of the syndrome rather than a comorbid disorder. Thus, CNV screening for GGE plus patients may have important implications in clinical practice with regards to diagnostic classification, clinical management of the syndromic multisystem disorders, and, potentially, genetic counselling.
Benign infantile seizures followed by autistic regression in a boy with 16p11.2 deletion
Authors: Milone Roberta , Valetto Angelo , Bertini Veronica , Sicca Federico
Published: August 2019

Benign infantile seizures (BIS) are usually a self‐limiting condition, which may be associated with heterozygous mutations in the PRRT2 gene at chromosome 16p11.2. Here, we report a boy with a deletion in 16p11.2, presenting with BIS and typical neurodevelopment in the first year of life, unexpectedly followed by severe autistic regression. 16p11.2 deletions are typically associated with intellectual disability, autism, and language disorders, and only rarely with BIS. This clinical report shows that the neurodevelopmental prognosis in BIS patients may not always be benign, and suggests that array CGH screening should be considered for affected infants in order to rule out deletions at 16p11.2 and long‐term clinical follow‐up.
Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations
Authors: Pavlidis Elena , Uldall Peter , Gøbel Madsen Camilla , Nikanorova Marina , Fabricius Martin , Høgenhaven Hans , Pisani Francesco , Møller Rikke S. , Gardella Elena , Rubboli Guido
Published: August 2019

We describe a case of a child suffering from alternating hemiplegia with a heterozygous p. E815K pathogenic variant of ATP1A3. The patient started to present abnormal eye movements in the first days of life, followed by the appearance at 2 months of dystonic episodes, and later on, by recurrent episodes of alternating hemiplegia more often on the right side. A severe epilepsy started at the age of 2 years with episodes of status epilepticus since the onset which frequently recurred, requiring admission to the intensive care unit. MRI showed bilateral mesial temporal sclerosis and a left‐sided ischaemic lesion. Interictal EEG showed bilateral abnormalities, whereas postictal EEG after status epilepticus showed overt slowing on the left side, suggesting a predominant involvement of ictal activity of the left hemisphere. We hypothesize that in our patient, the left hemisphere might have been more prominently affected by the pathogenetic abnormalities underlying alternating hemiplegia of childhood, rendering it more prone to early ischaemic lesions and recurrent unilateral status epilepticus. We speculate whether alternating hemiplegia of childhood shares some common pathophysiological mechanisms with familial hemiplegic migraine that may be associated with a pathogenic variant of ATP1A2.
Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1
Authors: Okazaki Tetsuya , Saito Yoshiaki , Hiraiwa Rika , Saitoh Shinji , Kai Masachika , Adachi Kaori , Nishimura Yoko , Nanba Eiji , Maegaki Yoshihiro
Published: August 2019

SYNGAP1 gene mutation has been associated with epilepsy which is often drug resistant, with seizure types including eyelid myoclonia. However, detailed descriptions, including ictal video‐EEG, have not been reported. We report the case of a 4‐year‐old boy who developed recurrent epileptic eyelid twitching at 1 year and 5 months of age. Seizures gradually increased in frequency to more than 50 times per day and manifested with upward eye deviation, motion arrest, loss of consciousness, and eyelid twitching lasting for five seconds. Ictal EEG showed rhythmic, generalized slow or spike‐and‐wave complex activity with posterior predominance. Moderate psychomotor developmental delay and unsteady gait were also noted. Neuroimaging results were normal. Seizures were refractory to carbamazepine and levetiracetam but were reduced in frequency by ethosuximide and lamotrigine administration. Genetic analysis identified a c.3583‐6 G>A mutation in the SYNGAP1 gene. SYNGAP1 gene analysis should be considered for intellectually disabled patients with early‐onset drug resistant eyelid twitching and photosensitivity. Further clinical research on SYNGAP1 function may be necessary to treat epilepsy of this aetiology. [Published with video sequence on www.epilepticdisorders.com]
The role of EEG in the diagnosis and classification of the epilepsy syndromes: a tool for clinical practice by the ILAE Neurophysiology Task Force (Part 2)
Authors: Koutroumanidis Michalis , Arzimanoglou Alexis , Caraballo Roberto , Goyal Sushma , Kaminska Anna , Laoprasert Pramote , Oguni Hirokazu , Rubboli Guido , Tatum William , Thomas Pierre , Trinka Eugen , Vignatelli Luca , Moshé Solomon L.
Published: August 2019

The concept of epilepsy syndromes, introduced in 1989, was defined as “clusters of signs and symptoms customarily occurring together”. Definition of epilepsy syndromes based on electro‐clinical features facilitated clinical practice and, whenever possible, clinical research in homogeneous groups of patients with epilepsies. Progress in the fields of neuroimaging and genetics made it rapidly clear that, although crucial, the electro‐clinical description of epilepsy syndromes was not sufficient to allow much needed development of targeted therapies and a better understanding of the underlying pathophysiological mechanisms of seizures. The 2017 ILAE position paper on Classification of the Epilepsies recognized that “as a critical tool for the practicing clinician, epilepsy classification must be relevant and dynamic to changes in thinking”. The concept of “epilepsy syndromes” evolved, incorporating issues related to aetiologies and comorbidities. A comprehensive update (and revision where necessary) of the EEG diagnostic criteria in the light of the 2017 revised terminology and concepts was deemed necessary. Part 2 covers the neonatal and paediatric syndromes in accordance with the age of onset. [Published with educational EEG plates atwww.epilepticdisorders.com].
The link between structural connectivity and neurocognition illustrated by focal epilepsy
Authors: Roger Elise , Petit Laurent , Perrone‐Bertolotti Marcela , Job Anne‐Sophie , Minotti Lorella , Kahane Philippe , Baciu Monica
Published: August 2019

Increasing attention is being paid to the assessment of white matter properties and its structural connectivity, both in healthy subjects and patients with cerebral lesions. Within this framework, new neurocognitive models based on hodological properties have been developed under a connectomic perspective in order to explain substrates and cognitive mechanisms related to cerebral functions such as language and memory. With regards to focal and drug‐resistant epilepsy conceived as a network disorder, new insights in terms of structural connectivity have led to significant advances in epilepsy research, concerning fundamental research (neurocognitive mechanisms of plasticity) and clinical application (optimization of decision making for curative surgery). We believe that such findings in the literature, focused on the role of white matter in cerebral functioning in relation to neurocognition, may be helpful for both researchers and clinicians working in the field of epilepsy.
Averaging in time‐frequency domain reveals the temporal and spatial extent of seizures recorded by scalp EEG
Authors: Alkawadri Rafeed , Gaspard Nicolas
Published: August 2019

Aim. To demonstrate the importance of averaging in time‐frequency space and the added localizing value in time and space in a case of cortical myoclonus.

Methods. One hundred myoclonic jerks were averaged in time series and in spectral domain. For the latter, we chose 100 (10‐second) segments from interictal background and used the unpaired t‐test for the jerk‐related and control spectral data to obtain the t value and corresponding p value at each pixel. We corrected for multiple comparisons using false discovery rate procedure. We generated maps of spectral significance per electrode. All insignificant t‐values were converted to 0 for easier visual analysis.

Results. Standard back‐averaging of 100 jerks disclosed a single spike preceding EMG activity by 19–27 milliseconds. No other definite ictal patterns were discernible in the time domain. Statistical analysis of the same 100 epochs in the time‐frequency domain disclosed a greater temporal extent of the seizure, as well as a more detailed rendering of rhythms and frequencies involved. Valproate was added and led to substantial improvement.

Conclusions. Averaging in the spectral domain may reveal frequency‐specific changes that may not be otherwise appreciated in the time domain. Future studies may elucidate the effect on the sensitivity of diagnosis of simple partial seizures and auras.
Ictal laryngospasm monitored by video‐EEG and polygraphy: a potential SUDEP mechanism
Authors: Lacuey Nuria , Vilella Laura , Hampson Johnson P. , Sahadevan Jayakumar , Lhatoo Samden D.
Published: August 2019

A 56‐year‐old man with refractory bitemporal epilepsy was monitored in the Epilepsy Monitoring Unit (EMU). In a video‐EEG captured seizure, brief oroalimentary automatisms were followed by increased inspiratory effort, accompanied by prominent, visible tracheal movements and audible inspiratory stridor. The patient's oxygen saturation rapidly declined to 62%; persistent severe hypoxemia ended with spontaneous effective respiration commencing at seizure end. Subsequent seizures necessitated intensive care unit admission for respiratory distress, and ventilator support. This case suggests that ictal laryngospasm, a rare seizure manifestation, may represent another potential mechanism of sudden unexpected death in epilepsy (SUDEP). [Published with video sequence on www.epilepticdisorders.com].
Rapid antiepileptic drug withdrawal may obscure localizing information obtained during presurgical EEG recordings
Authors: Novitskaya Yulia , Hintz Mandy , Schulze‐Bonhage Andreas
Published: August 2019

Withdrawal of antiepileptic drugs (AEDs) is a standard procedure during presurgical epilepsy assessment. Rapid and, at times, even pre‐hospital withdrawal of medication is performed in some centres to enhance the yield of recorded seizures during video‐EEG monitoring. AED withdrawal, however, affects the propensity and speed of propagation of epileptic activity, may evoke more severe seizures, and may cause pitfalls in EEG interpretation. We report a case which had been recommended to undergo intracranial EEG recordings in order to clarify apparently discordant MRI findings and ictal EEG patterns when monitoring was performed following complete AED withdrawal. Re‐evaluation to assess scalp EEG patterns at several drug levels during slow AED tapering showed a loss of localizing information with AED withdrawal due to contralateral and bitemporal spread of frontal epileptic activity. Our report demonstrates that in individual cases, rapid AED withdrawal during presurgical video‐EEG monitoring can impair the validity of EEG recordings and lead to unnecessary risks and investigations during workup.
Idiopathic generalised epilepsies of adult onset: a reappraisal and literature review
Authors: Pimentel José , Varanda Sara , Guimarães Pedro , Lopes da Silva Fernando
Published: August 2019

Idiopathic generalised epilepsies are characterised by widespread, symmetric, bilateral spike‐and‐wave discharges on EEG. Onset typically occurs in children and adolescents, but may also start in adulthood. These forms of adult onset constitute the focus of this review. A critical analysis of the medical literature was conducted through a narrative review search of PubMed and Medline databases. Cases of idiopathic generalised epilepsies with adult onset, in general, are not considered to be independent nosological entities. The “grand mal on awakening” seems to prevail among the idiopathic syndromes of adult onset. The EEG findings that question the diagnosis of late‐onset idiopathic generalised epilepsies consist mainly of patterns interpreted as representing focal epileptiform activity. Normal brain MRI and typical EEG abnormalities are essential for diagnosis. For all cases with symptomatology of suspected adult‐onset idiopathic generalised epilepsy, it is mandatory to exclude neurological conditions that may be associated with epileptic seizures which appear in this age group. A correct diagnosis of adult‐onset idiopathic generalised epilepsy alleviates concern for a symptomatic origin, leading to appropriate antiepileptic treatment.
Antiepileptic effect of olanzapine in epilepsy patients with atypical depressive comorbidity
Authors: Qiu Xiangmiao , Zingano Bianca , He Shixu , Zhu Xi , Peng Anjiao , Duan Jianan , Wolf Peter , Chen Lei
Published: August 2019

Depression is relatively common among patients with epilepsy, but often with predominant atypical symptoms. Some antiepileptic drugs show positive psychotropic effects, but these are not always sufficient to stabilize mood in epilepsy patients. Antidepressants are recommended to treat atypical depression but are not always effective and present a certain risk of seizure provocation. Thus, new treatment options are welcome. Here, we describe three cases of refractory epilepsy with atypical depression in which olanzapine, contrary to its earlier reported proconvulsant effect, showed excellent antidepressant action and resulted in seizure control. Possible mechanisms of this action are discussed.
Genetic (idiopathic) generalized epilepsy with occipital semiology
Authors: Gómez‐Porro Pablo , Serrano Angel Aledo , Toledano Rafael , García‐Morales Irene , Gil‐Nagel Antonio
Published: August 2019

Idiopathic photosensitive occipital lobe epilepsy (IPOE) is a syndrome that should be suspected in patients with seizures with occipital semiology, photosensitivity, and normal MRI. It should be distinguished from occipital epilepsy of unknown aetiology (cryptogenic) given the differences in management. We reviewed patients with occipital seizures which were investigated in our epilepsy unit during the last three years. Three patients were identified with features of IPOE and genetic generalized epilepsy (GGE), formerly known as idiopathic generalized epilepsy, and their clinical characteristics were analysed. We propose the term “idiopathic generalized epilepsy with occipital semiology” based on the significance of managing and treating this syndrome as a GGE.
Sleep‐related hypermotor epilepsy and peri‐ictal hypotension in a patient with syntaxin‐1B mutation
Authors: Peres Joao , Antunes Francisco , Zonjy Bilal , Mitchell Anna L. , Lhatoo Samden D.
Published: August 2019

STX1B is a gene that encodes syntaxin‐1B. STX1B mutations have recently been implicated in fever‐associated epilepsy syndromes. However, these have not previously been reported in sleep‐related hypermotor epilepsy. A 20‐year‐old man with a strong family history of epilepsy was investigated in our epilepsy monitoring unit due to uncontrolled epilepsy, compatible with sleep‐related hypermotor epilepsy. Electroclinical and polygraphic physiological recordings revealed left frontal epileptiform discharges and prominent peri‐ictal hypotension. Normal MRI using an epilepsy protocol prompted a search for a genetic epilepsy, which revealed a likely pathogenic mutation in the STX1B gene. The patient remained seizure‐free after treatment optimization with carbamazepine. This case suggests that a sleep‐related hypermotor epilepsy phenotype can be associated with syntaxin‐1B gene mutation, and testing for this gene should be considered in such patients. Furthermore, it may also be concluded that autonomic dysfunction, characterized by peri‐ictal hypotension, can also occur in this discorder. [Published with video sequences on www.epilepticdisorders.com]
Investigation of paediatric occipital epilepsy using stereo‐EEG reveals a better surgical outcome than in adults, especially when the supracalcarine area is affected
Authors: Craciun Laura , Taussig Delphine , Ferrand‐Sorbets Sarah , Pasqualini Eduardo , Biraben Arnaud , Delalande Olivier , Dorison Nathalie , Fohlen Martine , Dorfmuller Georg , Chipaux Mathilde
Published: August 2019

Aims. Occipital epilepsy is the least common among surgical series because: (1) the location makes it hard to asses by EEG; (2) the seizure semiology often reflects propagation; and (3) surgery entails a high risk of neurological deficits. In children, subjective symptoms are harder to assess, adding to the difficulty of a proper diagnosis.

Methods. We aimed to determine electroclinical characteristics of occipital lobe epilepsy in a paediatric population by reviewing 20 children between one and 16 years, who had undergone intracranial recordings with depth electrodes.

Results. Eight patients had pure occipital epilepsies and 12 had “occipital plus” epilepsies. We identified four different seizure spreading patterns: (1) pure occipital (40%) with oculomotor symptoms; (2) temporal (30%) with hypomotor behaviour and automatisms; (3) frontal (20%) with movements of the limbs; and (4) spasms (10%). Two thirds of the children above 11 years reported visual aura, but this was probably underestimated in younger children as some seizures began with non‐specific motion arrest. Automatisms were only observed when the lateral temporal lobe was involved. Patients with a pure occipital form had a seizure onset zone strictly in the occipital lobe. Lingual and cuneus gyri were the most epileptogenic structures. Scalp EEG showed diffuse EEG abnormalities in two thirds of the patients and 25% of these led to false lateralization of the SOZ. Although MRI lesions were always visible, imaging and scalp EEG could be misleading and often not sufficient to guide surgery. After surgery, 68% of the patients were classified as Engel Class I, and surgical outcome was even better for patients in whom the supracalcarine area was affected, with 87.5% reaching seizure freedom.

Conclusions. Seizure spread patterns in occipital epilepsy are similar in paediatric and adult populations, even though it is often impossible to obtain subjective symptoms in children. Postsurgical outcome is better than in adults, especially in patients in whom the supracalcarine area is affected.
Epilepsy surgery for polymicrogyria: a challenge to be undertaken
Authors: Maillard Louis , Ramantani Georgia
Published: August 2019

Polymicrogyria (PMG) is one of the most common malformations of cortical development (MCDs), with epilepsy affecting most patients. PMG‐related drug‐resistant epilepsy patients can be considered for epilepsy surgery in well‐selected cases. In this context, a comprehensive presurgical evaluation, often including stereo‐electroencephalography (SEEG), is warranted to accurately delineate the epileptogenic zone. The heterogeneity of intrinsic epileptogenicity in PMG, together with the additional or predominant involvement of remote cortical areas, calls for a different strategy in PMG compared to other MCDs, namely one that is not predominantly MRI‐ but rather SEEG‐oriented. Favourable results in terms of seizure freedom and antiepileptic drug cessation are feasible in a large proportion of patients with unilateral PMG. PMG extent should not deter from exploring the possibility of epilepsy surgery. On the other hand, patients with hemispheric PMG can be excellent hemispherotomy candidates, particularly when presenting with contralateral hemiparesis. Recent findings support the early consideration of surgery in PMG‐related drug‐resistant epilepsy.
Early and long‐term electroclinical features of patients with epilepsy and PCDH19 mutation
Authors: Chemaly Nicole , Losito Emma , Pinard Jean Marc , Gautier Agnès , Villeneuve Nathalie , Arbues Anne Sophie , An Isabelle , Desguerre Isabelle , Dulac Olivier , Chiron Catherine , Kaminska Anna , Nabbout Rima
Published: August 2019

Aims. Protocadherin 19 (PCDH19) mutations have been identified in epilepsy in females with mental retardation as well as patients with a “Dravet‐like” phenotype. We aimed to elucidate the electroclinical phenotype associated with PCDH19 mutation, which is currently difficult to identify at onset leading to a delay in diagnosis.

Methods. We retrospectively reviewed clinical and EEG data for 13 consecutive patients with PCDH19 mutations or deletions diagnosed at our centers from 2009 to 2011, and followed these patients into adolescence and adulthood.

Results. We identified a specific temporal sequence of electroclinical manifestations, identified as three main stages. During the first two years of life, previously healthy girls presented with clusters of afebrile focal seizures. Early seizures were recorded on video‐EEG in 10/13 patients, and were focal (n=8) with temporo‐occipital and frontal onset. Three patients with strictly stereotyped focal seizures underwent a pre‐surgical work‐up. Two patients started with generalized seizures, one presenting with early‐onset atypical absences and the other generalized tonic‐clonic seizures. During the course of the disease, from two to 10 years, seizures became fever‐sensitive and continued to recur in clusters, although these were less frequent. Seizures were mainly described by eyewitnesses as generalized tonic‐clonic, even though three of five seizures, recorded on EEG, showed a focal onset with fast bilateral spread. Atypical absences and fever‐induced tonic‐clonic seizures remained frequent in only one patient until the age of 16 years. No specific treatment or combination appeared to be more effective over another. Various degrees of cognitive or behavioural impairment were reported for all patients, but it was in the second decade that behavioural disturbances prevailed with hetero‐aggressiveness and behaviour associated with frontal lobe abnormalities leading to psychosis in two.

Conclusions. Early recognition of the above features should improve early diagnosis and long‐term management of patients with epilepsy and PCDH19 mutations.
Epileptology of the first tonic‐clonic seizure in adults and prediction of seizure recurrence
Authors: Koutroumanidis Michalis , Bruno Elisa
Published: August 2019

Aims. The risk of seizure recurrence after a first unprovoked seizure is influenced by certain risk factors. To understand their effect in people with early diagnosed new epilepsy, we assessed the risk of recurrence of focal to bilateral tonic‐clonic or generalized tonic‐clonic seizures and the associated factors in a clinically well‐characterized cohort of adults with a first unprovoked tonic‐clonic seizure.

Methods. We prospectively studied 150 consecutive adults with a first unprovoked tonic‐clonic seizure and full clinical, EEG, and brain imaging assessment within the first four weeks. New epilepsy was diagnosed and classified according to the International League Against Epilepsy criteria. Time to second focal to bilateral tonic‐clonic or generalized tonic‐clonic seizure was analysed using the Kaplan‐Meier method.

Results. Early diagnosis of new epilepsy, including type or syndrome and aetiology, was possible in 109 patients (72.7%). The diagnostic yield of sleep‐deprived EEG was high in both genetic and non‐genetic localized focal epilepsies. A second focal to bilateral tonic‐clonic or generalized tonic‐clonic seizure occurred in 100 patients (66.7%) during a three‐year mean observation period. The risk was higher in non‐genetic focal epilepsies and lower in genetic epilepsies. Concurrent absences or myoclonic seizures and a first occurrence after awakening were predictors of a second generalized tonic‐clonic seizure in patients with genetic generalized epilepsy, while diagnosis of temporal or frontal lobe epilepsy, focal EEG discharges, and focal changes on brain imaging were related to an increased risk of focal to bilateral tonic‐clonic seizure recurrence, showing additive effects. Identifiable modulators or triggers for the first tonic‐clonic seizure, early treatment, and older age showed inverse association.

Conclusions. The risk of a second generalized or focal to bilateral tonic‐clonic seizure and the factors involved vary across epilepsy aetiologies and syndromes. Early diagnosis and classification of new epilepsy is possible in most patients and may enable important adjustments to their management and treatment.
Bağlam Temelli Yaklaşımın Açıklama Destekli REACT Stratejisine Göre ‘Göz’ Konusunun Öğretimi
Authors: KARSLI BAYDERE Fethiye , AYDIN Ela
Published: August 2019

Bu araştırmanın amacı, “Göz” konusu ile ilgili Bağlam Temelli
Yaklaşım (BTY)’ın açıklama destekli REACT stratejisine uygun olarak yapılan öğretimin
ortaokul 7. sınıf öğrencilerinin kavramsal anlamalarına ve kavramsal anlamalarındaki
kalıcılığına etkisini incelemektir. Deneysel araştırma yöntemlerinden basit
deneysel desene göre yürütülen araştırmanın çalışma grubunu, Doğu Karadeniz
Bölgesi’nde bulunan bir ilçeye bağlı köy okulunun 7. sınıfında öğrenim gören
toplam 13 öğrenci oluşturmaktadır. Veriler, Göz Kavram Testi (GKT) ve yarı
yapılandırılmış mülakat aracılığıyla toplanmıştır. GKT öğrencilere ön, son ve geciktirilmiş
test olarak uygulanmıştır. GKT’nin ön, son ve geciktirilmiş testlerinin
karşılaştırılmasında istatistiksel analiz kullanılırken, yarı yapılandırılmış
mülakatlardan elde edilen veriler içerik analizi ile çözümlenmiştir. Araştırma
sonucunda, BTY’nin açıklama destekli REACT stratejisinin, öğrencilerin göz
konusundaki kavramal anlamalarına ve bu kavramsal anlamalarındaki kalıcılığı
üzerine olumlu etkilerinin olduğu tespit edilmiştir.
Evde Uygulanan Eğitim Etkinliklerinin 48-60 Aylık Çocukların Okumaya Ve Yazmaya Hazırlık Becerileri Üzerine Etkisinin İncelenmesi
Authors: Coşkun Lütfiye , Deniz Ümit
Published: August 2019

Araştırma aileler tarafından evde uygulanan eğitim etkinliklerinin 48-60
aylık çocukların okumaya ve yazmaya hazırlık becerileri üzerine etkisini
belirlemek amacıyla gerçekleştirilmiştir. Araştırmanın çalışma grubunu 23’ü
deney 23’ü kontrol grubu olmak üzere toplam 46 çocuk oluşturmuştur. Araştırma
verileri “Demografik Bilgi Toplama Formu”, “Okul Öncesi Dönemdeki Çocukların
Yazmaya Hazırlık Becerilerini Değerlendirme Kontrol Listesi” ve bu araştırma
kapsamında geliştirilen “Okumaya Hazırlık Becerilerini Değerlendirme Kontrol
Listesi” aracılığı ile toplanmıştır. Çalışma kapsamında çocukların okumaya ve
yazmaya hazırlık becerilerini desteklemek amacıyla araştırmacı tarafından
hazırlanan eğitim etkinlikleri 8 hafta boyunca anneleri tarafından deney grubu
çocuklarına uygulanırken kontrol grubu çocuklarına herhangi bir müdahalede
bulunulmamıştır. Deney ve kontrol grubu çocukların yazmaya hazırlık becerileri
son-test puanlarına Mann Whitney U Testi, okumaya hazırlık becerileri son-test
puanlarına ise ANCOVA analizi ile bakılmıştır. Araştırmadan elde edilen
bulgular değerlendirildiğinde deney ve kontrol grubu çocukların okumaya
hazırlık becerileri son-test puanları arasında deney grubu lehine anlamlı bir
farklılık bulunurken yazmaya hazırlık becerileri son-test puanları bakımından
bir farklılığa rastlanmamıştır. Çalışmada deney grubu çocuklarına aileleri
tarafından uygulanan ev etkinliklerinin çocukların okumaya hazırlık
becerilerine olumlu yönde katkı sağladığı sonucuna ulaşılmıştır.
Okuma Çemberlerinin Öğretmen Adaylarının Okuduğunu Anlama Düzeylerinin Gelişimine Etkisi
Authors: YILDIRIM Kasım , ATEŞ Seyit , ÇERMİK Hülya , DOĞAN Birsen
Published: August 2019

Bu araştırmada okuma çemberlerinin öğretmen adaylarının okuduğunu anlama düzeylerine etkisi araştırılmıştır. Araştırma bir devlet üniversitesinin eğitim fakültesinin sınıf eğitimi anabilim dalında öğrenim gören 3. sınıf öğretmen adayları ile gerçekleştirilmiştir. Araştırma örneklemini toplam 21 öğretmen adayı oluşturmuştur. Araştırmada öntest-sontest tek gruplu zayıf deneysel desen kullanılmıştır. Öğretmen adaylarının okuduğunu anlama düzeyleri araştırmacılar tarafından geliştirilen iki farklı anlama testi ile belirlenmiştir. Elde edilen veriler üzerinde yapılan analizler, okuma çemberlerinin öğretmen adaylarının okuduğunu anlama başarılarının artırılmasında istatistiksel olarak anlamlı etkilerinin olduğunu ortaya koymuştur.
HTAPP_FFPE fixation of fresh tumor tissue v1
Authors: Lako Ana , Rodig Scott
Published: August 2019

This protocol describes the steps to follow to best preserve morphology and protein integrity of fresh tisssue that is Formalin Fixed and Paraffin Embedded. This protocol includes guidelines for both core needle biopsies, small biopsy samples and larger surgical resections.
Resin Extraction Protocol (Applicable to Asteraceae, Haplopappus and Grindelia) v1
Authors: Urzúa Alejandro , Olguín Algel , Villagra Cristian
Published: August 2019

Sticky resins can be extracted by dipping fresh plant material (300 g) in cold CH2Cl2 (8 L) for 48 h, following Urzúa 2004. The resulting extract must be filtered through a cotton layer and concentrated to a sticky residue (36 g, 12%). The solvent can be removed in a rotary evaporator (for instance BÜCHI R-100) equipped with a vacuum pump (for example Rocker Chemker 300), at 45 ° C. The sticky residue was kept in a desiccator for 24 h under vacuum, until constant weight (36 g, 12% ). In the figure attached: A Example of this extraction using H. platylepis (Asteraceae) . B: Collaection of selected plant materials . C: Plant material dipped in CH2Cl2. D: Extract Filtering. E: Solvent evaporation. F: Resulting extract applied to a surface for sticky trapping porposes.
Fraseología y lexicografía: análisis y propuestas
Authors: González Aguiar María Isabel
Published: August 2019

Fraseología y lexicografía: análisis y propuestas.
Effect of early protected weight bearing in fractures of shaft of femur
Authors: Pillai Manju G.
Published: August 2019

Background: Fracture shaft of femur is a common and major musculoskeletal injury and in most of the cases the patients are immediately brought to hospitals for specialist orthopaedic management. The purpose of this study was to evaluate the effectiveness of early protected weight bearing in fractures of shaft of femur.

Methods: This was observational study conducted on 35 patient’s hospital with transverse fracture mid-shaft of femur, between March 2007 and July 2011. Patients with high velocity trauma, with transverse fracture of mid shaft of femur amenable to closed reduction and interlocking intramedullary nailing and otherwise healthy individuals were included in this study. The preoperative parameters were recorded included age, gender, side of the fracture and medical history. All patients were operated on second day of admission.

Results: A total of 35 consecutive cases were included, 34 patients were males and 1 was female. In 74% cases closed intramedullary nailing given excellent healing of fracture, in 14% cases healing was good, in 6% cases it was average and 6% cases poor healing was observed.

Conclusions: Our study demonstrate that this method provides anatomical reduction and maintenance of femur length and early ambulation which promotes fracture healing by a stable internal fixation allowing micro motion at fracture site enhancing callous formation.
Vibration Processing Technologies for Screenings Schungite Rock to Obtain an Effective Mycotoxin Sorbent
Authors: Vaisberg L.A. , Safronov A.N. , Nikonov I.N. , Zubkov D.G.
Published: August 2019

The results of studies of the use of vibration disintegration technology to obtain a mineral feed additive based on schungite are considered. It is shown that the vibration impact on the processed material provides the product of the desired fractional composition and grain shape. It has been established that the "Mustala" feed additive obtained by the vibration method on the basis of schungite is an effective mycotoxin sorbent and provides an increase in zootechnical indicators of poultry rearing.
Human-Centred Learning Analytics
Authors: Buckingham Shum Simon , Ferguson Rebecca , Martinez-Maldonado Roberto
Published: August 2019

The design of effective learning analytics extends beyond sound technical and pedagogical principles. If these analytics are to be adopted and used successfully to support learning and teaching, their design process needs to take into account a range of human factors, including why and how they will be used. In this editorial, we introduce principles of human-centred design developed in other, related fields that can be adopted and adapted to support the development of Human-Centred Learning Analytics (HCLA). We draw on the papers in this special section, together with the wider literature, to define human-centred design in the field of learning analytics and to identify the benefits and challenges that this approach offers. We conclude by suggesting that HCLA will enable the community to achieve more impact, more quickly, with tools that are fit for purpose and a pleasure to use.