bluuebunny/crossref_metadata_2025_split huggingface dataset:
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

AbstractSYNGAP1 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

ABSTRACTThe 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

ABSTRACTIncreasing 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

ABSTRACTAim. 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

ABSTRACTA 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

ABSTRACTWithdrawal 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

ABSTRACTIdiopathic 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

ABSTRACTDepression 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

ABSTRACTIdiopathic 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

ABSTRACTSTX1B 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

ABSTRACTAims. 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

ABSTRACTPolymicrogyria (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

ABSTRACTAims. 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

ABSTRACTAims. 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.
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.