bluuebunny/crossref_metadata_2025 huggingface dataset:
Disconnective surgery in posterior quadrantic epilepsy: a series of 12 paediatric patients
Authors: Yang Peng‐Fan , Mei Zhen , Lin Qiao , Pei Jia‐Sheng , Zhang Hui‐Jian , Zhong Zhong‐Hui , Tian Jun , Jia Yan‐Zeng , Chen Zi‐Qian , Zheng Zhi‐Yong
Published: August 2019

Aim. To assess the surgical outcomes of temporo‐parieto‐occipital (TPO) and parieto‐occipital (PO) disconnection surgery for children with intractable posterior quadrantic epilepsy and a unilateral posterior quadrant lesion based on MRI and functional imaging abnormality in the TPO region on one side. Methods. A retrospective review of data of 12 children who underwent TPO or PO disconnective surgery was carried out from September 2009 to September 2012. Three‐dimensional surface reconstructions of MRI scans and intraoperative electrophysiological monitoring were used during surgery. Drugs were not discontinued after surgery in any patient. Results. The affected hemisphere was the left in seven patients and the right in five patients. The mean ages at seizure onset and at surgery were four years and 12.3 years, respectively. At the time of surgery, 3 children had atonic seizures, 4 had symptomatic epilepsy with focal seizures and alteration of conscioussness, 4 had secondarily generalised seizures, and 1 child had spasms and tonic seizures. All patients had developmental delay. A pure TPO disconnection was performed in 11 patients and a PO disconnection was performed in the remaining patient. On pathological examination, 3 patients were shown to have focal cortical dysplasia (FCD) Ib, 2 with FCD IIa, 5 with FCD IIb, 1 with gliosis, and 1 with gliosis plus FCD IIa. Following surgery, 2 patients had oedema; 1 required another operation to resect the occipital lobe. At a mean follow‐up of 34.5 months, 9 patients (75%) were classified as Engel class I, 2 as Engel Class II, and 1 as Engel class III. All 12 children had contralateral hemianopia postoperatively and improvement in median IQ (p=0.04) was reported three months postoperatively. Conclusions. With respect to the limits of a retrospective and relatively small sample size series TPO and PO disconnection are safe and effective motor‐sparing epilepsy surgical procedures in selected patients with the epileptiform zone located in the posterior quadrant on one side.
Setting the scene: definition of prolonged seizures, acute repetitive seizures, and status epilepticus. Do we know why seizures stop?
Authors: Cross J. Helen
Published: August 2019

Status epilepticus is recognised as an acute emergency requiring urgent intervention. The optimal timing of such an intervention during a prolonged seizure, and the reasons for such, have provided much discussion. For operational purposes, a definition of a prolonged seizure of ≥5 minutes requiring intervention appears justified. However, a definition of status epilepticus of ≥30 minutes should stand, with the proportion of seizures proceeding to this clinical state remaining small. The reasons for this may be inherent to an individual, but an understanding of the mechanisms underlying the predisposition may lead to improved management pathways in the future.
Overview of clinical efficacy and risk data of benzodiazepines for prolonged seizures
Authors: Lagae Lieven
Published: August 2019

An historical overview is provided regarding the use of benzodiazepines for the treatment of acute prolonged convulsive seizures. It is clear that intravenous benzodiazepines remain a first step for the in‐hospital treatment of prolonged seizures or status epilepticus. However, in the community, in a pre‐hospital situation, intravenous administration is not possible. In recent years, it was shown that rectal, buccal, intranasal, and intramuscular administration of benzodiazepines is very effective as a first and safe treatment step. In many cases, rectal diazepam is not socially acceptable anymore, and therefore more emphasis is now put on buccal, intranasal, and intramuscular administration. At present, based on the available data, midazolam is the product of choice for the acute treatment of prolonged convulsive seizures.
Is there a need for further trials for the treatment of prolonged seizures?
Authors: Pellock John M. , Seinfeld Syndi
Published: August 2019

Prolonged seizures are associated with morbidity and mortality of varying degrees. It is important to recognize seizures early, and treat them appropriately. This leads to the best clinical outcome. There has been an emphasis on prompt treatment, but there exists a variety of poorly executed protocols. This review addresses the question of whether additional clinical trials are necessary, not only to answer for what purpose, but also, clearly, to examine the impact additional studies may have. Overall, the acute treatment of epilepsy emergencies in children has markedly improved with availability of out‐of‐hospital therapies, but additional studies to determine the most efficacious, maximally safe, and best tolerated treatments are needed.
The use of electrical source imaging in targeting lesional mesial temporal epilepsy for radiosurgical treatment
Authors: Del Felice Alessandra , Foroni Roberto , Manganotti Paolo , Storti Silvia F , Ricciardi Giuseppe K , Bashat Dafna Ben , Longhi Michele , Meglio Mario , Nicolato Antonio
Published: August 2019

Gamma knife radiosurgery (GK‐RS) is a technique applied in selected cases of mesial‐temporal epilepsy, although still limited to centres with adequate instrumentation and expertise. Here, we report a case of radio surgery targeted with the aid of electrical source imaging that localizes the cortical area generating the scalp epileptic discharges. The patient, a 39‐year‐old male, presented with a right mesio‐temporal lesion; electrical source imaging localization partially overlapped with the lesional area but showed an important activation of the omolateral frontal area, concordant with the epileptic network. The patient underwent GK‐RS, with good neurosurgical and clinical results. A radiosurgical ellipsoidal treatment volume area of 2×2×2 cm3, located over the right temporo‐mesial region within a centre showing abnormal signal intensity, was considered. Seven months after treatment, the patient developed brain oedema that gradually resolved after one year. After three years of follow‐up, the patient was seizure‐free (Engel class I). Our very preliminary experience suggests that electrical source imaging appears to be a useful supporting tool for the definition of the radiosurgical treatment volume in selected patients with temporo‐mesial lesional epilepsy.
Focal EEG slowing and chorea: electroclinical clues to the diagnosis of anti‐NMDAR encephalitis
Authors: Osei‐Lah Abena , Durrant Emma , Hussain Munir , Kirkham Fenella
Published: August 2019

Variations in clinical presentation can lead to delays in the diagnosis and initiation of treatment of anti‐N‐methyl‐D‐aspartate receptor encephalitis. Most patients have an EEG study performed early in the course of their illness. Although not specific, there may be clues in the electroclinical features that should alert clinicians and electroencephalographers to the possibility of this diagnosis. This case is a reminder that anti‐ anti‐N‐methyl‐D‐aspartate receptor encephalitis may present initially with a movement disorder as the sole symptom, without features of an encephalopathy. In addition, it adds to the growing body of evidence that recognition of certain electroclinical clues may shorten the time to diagnosis. [Published with video sequence]
Febrile seizures and genetic epilepsy with febrile seizuresplus(GEFS+)
Authors: Camfield Peter , Camfield Carol
Published: August 2019

Aim. To review the literature about febrile seizures and GEFSpluswith special emphasis on management and outcome.Methods. Selected literature review.Results. Febrile seizures are the most common convulsive event in humans, occurring in 2–6% of the population. The aetiology is complex with strong evidence for a heterogeneous genetic predisposition interacting with fever of any cause, with certain viral infections having a greater effect. A large amount of literature has established that febrile seizures have no long‐term consequences on cognition or behaviour. Unfortunately, about 40% of children with a first febrile seizure will have a recurrence. The strongest predictor of recurrence is age <14–16 months at the time of the first febrile seizure. Epilepsy follows febrile seizures in ∼3% cases, with the concepts of simple and complex febrile seizures providing relatively weak prediction. Very prolonged febrile seizures may lead to mesial temporal sclerosis and temporal lobe epilepsy although the degree of risk remains uncertain. Investigations beyond establishing the cause of the provoking fever are nearly always unnecessary. Treatment is mainly reassurance and there is some evidence that parents eventually “come to grips” with the fear that their children are dying during a febrile seizure. Antipyretic medications are remarkably ineffective to prevent recurrences. Daily and intermittent prophylactic medications are ineffective or have unacceptable side effects or risks. “Rescue” benzodiazepines may prevent prolonged recurrences for selected patients with a first prolonged febrile seizure although this has not been proven. Genetic epilepsy with febrile seizuresplus(GEFS+) is a complex autosomal dominant disorder usually caused by mutations inSCN1A(a voltage‐gated sodium channel). One third of patients have febrile seizures only; two thirds have a variety of epilepsy syndromes, both focal and generalized.

Conclusions. Febrile seizures may distress parents but rarely have any long‐term consequences. Reassurance is the only treatment for the vast majority. Identifying patients with GEFSplusmay lead to further investigations and counselling.
Good outcome in adult‐onset Rasmussen's encephalitis syndrome: is recovery possible?
Authors: Poloni Tino Emanuele , Galli Alberto , Pichiecchio Anna , di Lodovico Laura , Ceroni Mauro
Published: August 2019

A healthy 29‐year‐old man suffered from adult‐onset epilepsy, characterized by polymorphic progressive seizures resistant to AEDs, leading to unilateral cortical deficits and atrophy of the left hemisphere. The disorder satisfied the clinical, EEG, and imaging criteria for a diagnosis of Rasmussen's encephalitis. During the acute phase of the disease, intrathecal synthesis of specific anti‐CMV IgG was identified. This case was characterized by a very mild course and remission of seizures following a treatment with high‐dose intravenous polyvalent immunoglobulins containing a high anti‐CMV titre. The patient remained symptomless for more than 15 years from clinical onset and more than eight years after the discontinuation of immunological therapy. In agreement with a recent report, this case confirms that adult‐onset Rasmussen's encephalitis syndrome may occur with a very mild clinical picture and persistent remission. In this case, the specific index for intrathecal production of anti‐CMV antibodies suggested possible CMV involvement, indicating specific immuno‐therapy as a treatment choice.
Prescription of emergency antiepileptic medication after a first childhood seizure: analysis of routine administrative data
Authors: Chin Richard FM , Ajetunmobi Omotomilola , Weir Christopher J , Wood Rachael
Published: August 2019

Aim. UK guidelines do not recommend prescribing emergency antiepileptic drugs after first simple febrile seizures or for single afebrile seizures. Non‐adherence to the guidelines could result in substantial health service cost.

Methods. Scottish national hospital discharge records were used to identify children aged one month to 4 years admitted for a first febrile seizures or single afebrile seizures between April 2009 and March 2012. Prescriptions for antiepileptic drugs within 12 months of index admission were identified on the national community prescribing database by matching unique patient identifiers.

Results. There were 1,978 and 663 children admitted for febrile seizures and single afebrile seizures, respectively. One percent of children admitted with febrile seizures and 1.7% with single afebrile seizures had a subsequent community prescription record for emergency antiepileptic drugs within 12 months of index admission. Total cost of emergency antiepileptic drugs following febrile seizures and single afebrile seizures for the study period was just over £900.

Conclusion. Health care providers and policy makers can be reassured that emergency antiepileptic drugs are not being inappropriately overprescribed for febrile seizures and single afebrile seizures.
Focal inhibitory seizure with prolonged deficit in adult Sturge‐Weber syndrome
Authors: Aupy Jerome , Bonnet Charlotte , Arnould Jean‐Simon , Fernandez Philippe , Marchal Cecile , Zanotti‐Fregonara Paolo
Published: August 2019

Sturge‐Weber syndrome is a sporadic congenital neurocutaneous disorder often related to varying degrees of motor impairment. The phenomenon of prolonged ictal paresis is a rare seizure sign that can be due to lesions affecting the centro‐parietal lobe. Focal inhibitory motor seizures can be difficult to differentiate from other clinical entities such as stroke, migraine or postictal paresis. We describe the case of a 40‐year‐old patient suffering from Sturge‐Weber syndrome, admitted due to prolonged right‐sided hemiparesis following a usual seizure. Repeated EEGs during the prolonged deficit showed only intermittent left fronto‐parietal sharp waves. 99mTc HMPAO‐brain SPECT performed seven days after the last seizure showed a vast area of parieto‐occipital hyperperfusion in the left hemisphere. Aggressive antiepileptic therapy dramatically improved the clinical symptoms and scintigraphic images, which corroborated the diagnosis of ictal paresis. This case highlights the role of SPECT in the evaluation of Sturge‐Weber syndrome, not only to investigate progressive neurological deterioration, but also exacerbation of seizures or prolonged neurological deficits. In fact, it may be possible to document ongoing epileptic activity using SPECT, despite a non‐contributory EEG, which may be of help in adapting a therapeutic strategy.
Multiphasic presentation of Rasmussen's encephalitis
Authors: Avberšek Andreja , Miserocchi Anna , McEvoy Andrew W. , Patel Ayesha V. , Aronica Eleonora , Blümcke Ingmar , Jacques Thomas S. , Acheson James , Thom Maria , Sisodiya Sanjay M.
Published: August 2019

Rasmussen's encephalitis is a rare, chronic inflammatory disorder of unknown cause, characterised by drug‐resistant focal epilepsy that may rarely present in adolescence or adulthood. We present a case of Rasmussen's encephalitis with prominent recurrent fluctuation in symptoms and well‐documented fluctuating changes on MRI, adding to the spectrum of diversity of Rasmussen's encephalitis.
Minimally resective epilepsy surgery in MRI‐negative children
Authors: Hyslop Ann , Miller Ian , Bhatia Sanjiv , Resnick Trevor , Duchowny Michael , Jayakar Prasanna
Published: August 2019

Aim. Performing epilepsy surgery on children with non‐lesional brain MRI often results in large lobar or multilobar resections. The aim of this study was to determine if smaller resections result in a comparable rate of seizure freedom.

Methods. We reviewed 25 children who had undergone focal corticectomies restricted to one aspect of a single lobe or the insula at our institution within a 5.5‐year period. Data collected in the comprehensive non‐invasive pre‐surgical evaluation (including scalp video‐EEG, volumetric MRI, functional MRI, EEG source localization, and SPECT and PET), as well as from invasive recordings performed in each patient, was reviewed. Data from each functional modality was identified as convergent or divergent with the epileptogenic zone using image coregistration. Specific biomarkers (from extra‐operative and invasive testing) previously indicated to be indicative of focal epileptogenicity were used to further tailor each resection to an epileptogenic epicentre. Tissue pathology and postoperative outcomes were obtained from all 25 patients.

Results. Two years postoperatively, 15/25 (60%) children were seizure‐free, three (12%) experienced >90% reduction in seizure frequency, two (8%) had a 50–90% reduction in seizure frequency, and the remaining five (20%) had no change in seizure burden. There was no significant difference in outcome based on numerous pre‐ and postoperative factors including location of resection, the number of preoperative functional tests providing convergent data, and tissue pathology.

Conclusion. In MRI‐negative children with focal epilepsy, an epileptogenic epicentre within a larger epileptogenic zone can be identified when specific biomarkers are recognized on non‐invasive and invasive testing. When such children undergo resection of a small, well‐defined epileptogenic epicentre, favourable outcomes can be achieved.
Information‐seeking behaviour for epilepsy: an infodemiological study of searches for Wikipedia articles
Authors: Brigo Francesco , Otte Willem M. , Igwe Stanley C. , Ausserer Harald , Nardone Raffaele , Tezzon Frediano , Trinka Eugen
Published: August 2019

Millions of people worldwide use the internet daily as a source of health information. Wikipedia is a popular free online encyclopaedia used by patients and physicians to search for health‐related information. Our aim was to evaluate information‐seeking behaviour of English‐speaking internet users searching Wikipedia for articles related to epilepsy and epileptic seizures. Using Wiki Trends, which provides quantitative information on daily viewing of articles, data on global search queries for Wikipedia articles related to epilepsy and seizures were analysed. The daily Wikipedia article views on syncope, psychogenic non‐epileptic seizures, migraine, and multiple sclerosis served as comparative data. The period of analysis covered was from January 2008 to December 2014. Overall, the Wikipedia article “epilepsy and driving” was found to be more frequently visited than the articles “epilepsy and employment” or “epilepsy in children”. Since January 2008, the Wikipedia article “multiple sclerosis” was more often visited compared to the articles “epilepsy”, “syncope”, “psychogenic non‐epileptic seizures” or “migraine”; the article “epilepsy” ranked 3,779 and was less frequently visited than “multiple sclerosis”, ranked at 571, in traffic on Wikipedia. The highest peak in search volume for the article “epilepsy” coincided with the news of a celebrity having seizures. Fears and worries about epileptic seizures, their impact on driving and employment, and news about celebrities with epilepsy might be major determinants in searching Wikipedia for information.
The ketogenic diet in two paediatric patients with refractory myoclonic status epilepticus
Authors: Caraballo Roberto Horacio , Valenzuela Gabriela Reyes , Armeno Marisa , Fortini Sebastian , Mestre Graciela , Cresta Araceli
Published: August 2019

Aim. We describe two patients with refractory myoclonic status epilepticus treated with the ketogenic diet.

Methods. Between May 1, 2014 and January 1, 2015, two patients who met the diagnostic criteria for refractory myoclonic status epilepticus, seen at our department, were placed on the ketogenic diet and followed for a minimum of six months.

Results. One patient with myoclonic epilepsy of unknown aetiology had a 75–90% seizure reduction, and the other with progressive encephalopathy associated with myoclonic epilepsy had a 50% seizure reduction. Both patients retained good tolerability for the diet. At the last control, one patient had isolated myoclonias and EEG showed occasional generalized spike‐and‐polyspike waves; the patient is now successfully attending kindergarten. The quality of life of the second patient improved significantly. In both cases, the number of antiepileptic drugs was reduced.

Conclusion. The ketogenic diet is an effective and well‐tolerated treatment option for patients with refractory myoclonic status epilepticus and should be considered earlier in the course of treatment.
Duration of valproic acid monotherapy correlates with subclinical thyroid dysfunction in children with epilepsy
Authors: Ilić Violeta , Bogićević Dragana , Miljković Branislava , Ješić Maja , Kovačević Marijana , Prostran Milica , Kovačević Sandra Vezmar
Published: August 2019

Aim. To identify potential risk factors for the development of subclinical hypothyroidism following long‐term valproic acid monotherapy in children with epilepsy.

Methods. Serum levels of thyroid‐stimulating hormone, free thyroxine, free triiodothyronine, thyreoglobulin antibodies, and thyroid peroxidase antibodies were determined in 41 patients and in 41 sex‐ and age‐matched healthy children.

Results. Mean valproic acid treatment duration was 2.80±1.96 years. The valproic acid group had higher serum thyroid‐stimulating hormone (p<0.001) and free triiodothyronine (p<0.05) levels compared to the control group. Serum thyroid‐stimulating hormone and free triiodothyronine were above the upper limit for healthy controls in 34% and 32% of patients, respectively, and no clinical features of thyroid dysfunction were observed. Duration of valproic acid monotherapy for less than four years was a risk factor for elevated thyroid‐stimulating hormone levels.

Conclusion. One third of children with normal range serum valproic acid levels may have elevated serum thyroid‐stimulating hormone and free triiodothyronine levels, especially in the first four years of treatment.
SCARB2/LIMP2 deficiency in action myoclonus‐renal failure syndrome
Authors: Dibbens Leanne , Schwake Michael , Saftig Paul , Rubboli Guido
Published: August 2019

Action myoclonus–renal failure syndrome (AMRF) is an autosomal recessive progressive myoclonus epilepsy (PME) associated with renal dysfunction that appears in the second or third decade of life and that is caused by loss‐of‐function mutations in the SCARB2 gene encoding lysosomal integral membrane protein type 2 (LIMP2). Recent reports have documented cases with PME associated with SCARB2 mutations without renal compromise. Additional neurological features can be demyelinating peripheral neuropathy, hearing loss and dementia. The course of the disease in relentlessly progressive. In this paper we provide an updated overview of the clinical and genetic features of SCARB2‐related PME and on the functions of the LIMP2 protein.
Sialidoses
Authors: Franceschetti Silvana , Canafoglia Laura
Published: August 2019

Sialidoses are autosomal recessive disorders caused by NEU1 gene mutations and are classified on the basis of their phenotype and onset age. Sialidosis type II, with infantile onset, has a more severe phenotype characterized by coarse facial features, hepatomegaly, dysostosis multiplex, and developmental delay while patients with the late and milder type, known as “cherry red spot‐myoclonus syndrome” develop myoclonic epilepsy, visual impairment and ataxia in the second or third decade of life. The diagnosis is usually suggested by increased urinary bound sialic acid excretion. We recently described genetically diagnosed patients with a specially mild phenotype, no retinal abnormalities and normal urinary sialic acid. This observation suggests that genetic analysis or the demonstration of the neuraminidase enzyme deficiency in cultured fibroblasts are needed to detect and diagnose mildest phenotypes.
Myoclonus epilepsy in mitochondrial disorders
Authors: Lamperti Costanza , Zeviani Massimo
Published: August 2019

Mitochondrial disorders is a group of clinical entities associated with abnormalities of the mitochondrial respiratory chain (MRC), which carries out the oxidative phosphorylation (OXPHOS) of ADP into ATP. As the MRC is the result of genetic complementation between two separate genomes, nuclear and mitochondrial, OXPHOS failure can derive from mutations in either nuclear‐encoded, or mitochondrial‐encoded, genes. Epilepsy is a relatively common feature of mitochondrial disease, especially in early‐onset encephalopathies of infants and children. However, the two most common entities associated with epilepsy include MERRF, for Myoclonic Epilepsy with Ragged Red Fibers, and AHS, or Alpers‐Huttenlocher syndrome, also known as hepatopathic poliodystrophy. Whilst MERRF is a maternally inherited condition caused by mtDNA mutations, particularly the 8344A>G substitution in the gene encoding mt‐tRNALys, AHS is typically caused by recessive mutations in POLG, encoding the catalytic subunit of polymerase gamma, the only mtDNA polymerase in humans. AHS is the most severe, early‐onset, invariably fatal syndrome within a disease spectrum, which also include other epileptogenic entities, all due to POLG mutations and including Spino‐cerebellar Ataxia and Epilepsy (SCAE). This review reports the main clinical, neuroimaging, biochemical, and molecular features of epilepsy‐related mitochondrial syndrome, particularly MERRF and AHS.
Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis
Authors: Ferlazzo Edoardo , Striano Pasquale , Italiano Domenico , Calarese Tiziana , Gasparini Sara , Vanni Nicola , Fruscione Floriana , Genton Pierre , Zara Federico
Published: August 2019

Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis is an extremely rare condition, so far reported in a single family of Algerian origin presenting an unusual, severe form of progressive myoclonus epilepsy characterized by myoclonus, generalized tonic‐clonic seizures and moderate to severe cognitive impairment, with probable autosomal recessive inheritance. Disease onset was between 6 and 16 years of age. Genetic study allowed to identify a homozygous nonsynonymous mutation in CERS1, the gene encoding ceramide synthase 1, a transmembrane protein of the endoplasmic reticulum (ER), catalyzes the biosynthesis of C18‐ceramides. The mutation decreased C18‐ceramide levels. In addition, downregulation of CerS1 in neuroblastoma cell line showed activation of ER stress response and induction of proapoptotic pathways. This observation demonstrates that impairment of ceramide biosynthesis underlies neurodegeneration in humans.
Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials
Authors: Michelucci Roberto , Pasini Elena , Riguzzi Patrizia , Andermann Eva , Kälviäinen Reetta , Genton Pierre
Published: August 2019

Generalized motor seizures, usually tonic‐clonic, tonic‐vibratory, myoclonic or clonic, and stimulus‐sensitive/action myoclonus are typical features of progressive myoclonus epilepsies (PMEs). Despite the introduction of many anticonvulsants, the treatment of these symptoms, particularly myoclonus, remains challenging, due to the incomplete and often transitory effects of most drugs. Moreover, treatment is only symptomatic, since therapy targeting the underlying aetiology for these genetic conditions is in its infancy. Traditional antiepileptic drugs for the treatment of PMEs are valproate, clonazepam, and phenobarbital (or primidone). These drugs may improve the overall performance of PME patients by decreasing their generalized seizures and, to a lesser extent, their myoclonic jerks. Newer drugs which have been shown to be effective include piracetam, levetiracetam, topiramate, zonisamide, and possibly perampanel for Lafora disease. The potential of other drugs (such as L‐triptophan and N‐acetylcysteine) and procedures (such as vagal and deep brain stimulation) has also been discussed. The available data on the efficacy of drugs are mainly based on small series or anecdotal reports. Two prospective, randomized, double blind studies investigating the novel SV2A ligand, brivaracetam, in genetically confirmed Unverricht‐Lundborg patients have been performed with disappointing results. When treating PMEs, particular care should be paid to avoid drugs known to aggravate myoclonus or myoclonic seizures, such as phenytoin, carbamazepine, oxcarbazepine, lamotrigine, vigabatrin, tiagabine, gabapentin, and pregabalin. The emergency treatment of motor status, which often complicates the course of PMEs, consists of intravenous administration of benzodiazepines, valproate, or levetiracetam.
Control groups in paediatric epilepsy research: do first‐degree cousins show familial effects?
Authors: Hanson Melissa , Morrison Blaise , Jones Jana E. , Jackson Daren C. , Almane Dace , Seidenberg Michael , Zhao Qianqian , Rathouz Paul J. , Hermann Bruce P.
Published: August 2019

Aim. To determine whether first‐degree cousins of children with idiopathic focal and genetic generalized epilepsies show any association across measures of cognition, behaviour, and brain structure. The presence/absence of associations addresses the question of whether and to what extent first‐degree cousins may serve as unbiased controls in research addressing the cognitive, psychiatric, and neuroimaging features of paediatric epilepsies.

Methods. Participants were children (aged 8–18) with epilepsy who had at least one first‐degree cousin control enrolled in the study (n=37) and all enrolled cousin controls (n=100). Participants underwent neuropsychological assessment and brain imaging (cortical, subcortical, and cerebellar volumes), and parents completed the Child Behaviour Checklist (CBCL). Data (based on 42 outcome measures) from cousin controls were regressed on the corresponding epilepsy cognitive, behavioural, and imaging measures in a linear mixed model and case/control correlations were examined.

Results. Of the 42 uncorrected correlations involving cognitive, behavioural, and neuroimaging measures, only two were significant (p<0.05). The median correlation was 0.06. A test for whether the distribution of p values deviated from the null distribution under no association was not significant (p>0.25). Similar results held for the cognition/behaviour and brain imaging measures separately.

Conclusions. Given the lack of association between cases and first‐degree cousin performances on measures of cognition, behaviour, and neuroimaging, the results suggest a non‐significant genetic influence on control group performance. First‐degree cousins appear to be unbiased controls for cognitive, behavioural, and neuroimaging research in paediatric epilepsy.
Myoclonic jerks are commonly associated with absence seizures in early‐onset absence epilepsy
Authors: Nasser Hala , Lopez‐Hernandez Elisa , Ilea Adina , Le Morvan Neli , Bellavoine Vanina , Delanoë Catherine , Auvin Stéphane
Published: August 2019

Aim. Typical absence seizures are observed in various epilepsy syndromes, however, few series have focused on early‐onset absence epilepsy (EOAE). We aimed to evaluate the occurrence of this seizure type in children under 4 years of age in order to evaluate their electroclinical characteristics and outcome.

Methods. We retrospectively studied (2006–2014) the electroclinical features of children with normal development and typical absence seizures starting before the age of 4 (with available pre‐treatment video‐EEG).

Results. Nine patients were included. Among them, eight patients had rhythmic myoclonic jerks involving the muscles of the upper face (eyebrows and eyelids) or neck, present from the onset to the end of the typical absence discharge. The myoclonia were synchronous with spike‐wave complexes. One patient with GLUT‐1 deficiency was refractory to antiepileptic polytherapy. The other eight became seizure‐free; five with one antiepileptic drug and three with a combination of two drugs. The treatment was successfully withdrawn in five of the six patients who achieved two years of seizure freedom. None of them exhibited any other seizure type. Four of the eight patients with normal schooling required some support. We observed a positive correlation between the duration of absence seizure and the age of the patient at examination.

Conclusion. Most of the patients under four years with only typical absence seizures had EOAE, and the motor symptoms may represent a distinctive age‐related feature of EOAE. Further investigations are required to better correlate the role of brain maturation with the duration of the absence. [Published with video sequence on www.epilepticdisorders.com]
Pointed rhythmic theta waves: a unique EEG pattern in KCNQ2‐related neonatal epileptic encephalopathy
Authors: Buttle Sarah Grace , Sell Erick , Dyment David , Bulusu Srinivas , Pohl Daniela
Published: August 2019

We report the case of an infant with KCNQ2‐related neonatal epileptic encephalopathy presenting with intractable seizures beginning on the second day of life, which were resistant to multiple antiepileptic drugs. Continuous EEG recordings starting on the sixth day of life demonstrated a unique pattern of inter‐and postictal focal rhythmic pointed theta waves of lambdoid morphology in the immediate postictal period, localizing to the side of the antecedent seizure. Interictal EEG exhibited discontinuous background, including patterns of burst suppression and multifocal discharges, predominantly in the centrotemporal regions, which were aggravated during sleep. MRI demonstrated T1 signal abnormalities in the basal ganglia, bilaterally. Genetic testing revealed a de novo missense mutation in KCNQ2 at position c.545 T>G, encoding a previously unreported substitution (p.Val182Gly). Seizure control was achieved immediately after starting a lidocaine infusion at age 4 weeks. The patient remained largely seizure‐free following add‐on oral carbamazepine for maintenance therapy and weaning off lidocaine. This is the first report of a patient with KCNQ2‐related neonatal epileptic encephalopathy and therapy‐refractory seizures aborted by lidocaine, demonstrating a unique EEG pattern of inter‐ and postictal focal rhythmic pointed theta waves. Whether this pattern could be an early EEG marker for this disorder remains to be confirmed. [Published with video sequences on www.epilepticdisorders.com]
Acquired epileptic opercular syndrome related to a heterozygous deleterious substitution in GRIN2A
Authors: Sculier Claudine , Tilmant Anne‐Sophie , De Tiège Xavier , Giurgea Sanda , Paquier Philippe , Rudolf Gabrielle , Lesca Gaetan , Van Bogaert Patrick
Published: August 2019

Epileptic encephalopathies with continuous spike‐and‐waves during sleep (CSWS) are characterized by cognitive or language impairment, and are occasionally associated with pathogenic variants of the GRIN2A gene. In these disorders, speech dysfunction could be either related to cerebral dysfunction caused by the GRIN2A deleterious variant or intense interictal epileptic activity.

Here, we present a patient with apraxia of speech, clearly linked to severity of epilepsy, carrying a GRIN2A variant. A 6‐year‐old boy developed acute regression of expressive language following epileptic seizures, leading to complete mutism, at which time EEG revealed CSWS. MEG showed bilateral superior parietal and opercular independent CSWS onsets and PET with fluorodeoxyglucose demonstrated significant increase in relative glucose metabolism in bilateral superior parietal regions. Corticosteroids induced a regression of CSWS together with impressive improvement in speech abilities.

This case supports the hypothesis of a triggering role for epileptic discharges in speech deterioration observed in children carrying a deleterious variant of GRIN2A. When classic antiepileptic drugs fail to control epileptic activity, corticosteroids should be considered. Multimodal functional neuroimaging suggests a role for opercular and superior parietal areas in acquired epileptic opercular syndrome. [Published with video sequences on www.epilepticdisorders.com]
Hyperkinetic motor seizures: a common semiology generated by two different cortical seizure origins
Authors: Vaugier Lisa , McGonigal Aileen , Lagarde Stanislas , Trébuchon Agnes , Szurhaj William , Derambure Philippe , Bartolomei Fabrice
Published: August 2019

We report a 37‐year‐old, right‐handed patient with drug‐resistant focal epilepsy whose seizures were characterized by explosive hyperkinetic behaviour. Video‐SEEG revealed bifocal organization of epilepsy with two distinct cortical origins of seizures: the right temporal pole and left temporal lateral and perisylvian cortex. Irrespective of the cortical pattern of seizure onset, the hyperkinetic semiology was extremely similar. This supports a major role for “final common pathway” subcortical circuits in the genesis of the hyperkinetic semiology in this patient.
Atlas of Electroencephalography, 3rd Edition
Authors: Asadi‐Pooya Ali Akbar , Dlugos Dennis , Skidmore Christopher , Sperling Michael R
Published: August 2019

Electroencephalography (EEG) is the recording of the electrical activity of the brain. EEG is a reliable test to assess cerebral function. It aids in diagnosis, classification, and management of patients with epilepsy. It also has practical uses in conditions other than epilepsy. Moreover, it is harmless and inexpensive. EEG is an important tool for evaluating patients with epilepsy. It may help classify the syndrome, identify the likely source of focal seizures, and confirm a diagnosis of status epilepticus. EEG is therefore helpful when selecting appropriate antiepileptic drugs for patients with epilepsy, is valuable for diagnosis and management of status epilepticus as well as predicting the prognosis in epilepsy syndromes, and, is finally useful when localizing an area for resection in surgery candidates. In addition, despite advances in neuroimaging, EEG remains a valuable tool in the evaluation of stuporous and comatose patients. A systematic approach is essential for EEG interpretation, and when combined with good clinical judgment, it will improve diagnostic sensitivity and specificity and may improve therapeutic outcomes. This EEG atlas is designed as a practical guide for neurology residents, neurologists, and epileptologists, so that they may appropriately identify normal and abnormal findings, while reading an EEG. By reading and reviewing the relevant chapter of this well‐organized atlas, that includes many EEG images, the reader will also learn how to report an EEG finding. We hope that this atlas fills an unmet need, and leads to improved patient care.
Occipital ulegyria causing epilepsy and visual impairment: an easily overlooked epilepsy syndrome
Authors: O'Connor Antoinette , Costello Daniel J.
Published: August 2019

Ulegyria refers to scarring of the cerebral cortex usually arising from perinatal ischaemia. The scarring has a specific configuration in which small atrophic circumvolutions at the bottom of a sulcus underlie an intact spared gyral apex. This disconnection of overlying cortex may allow an “epileptogenic” island of cortex to generate seizures. Ulegyria is often associated with epilepsy and developmental delay, however, the syndromic association of visual impairment with epilepsy due to occipital ulegyria may not be recognised as a specific entity. Here, we report a series of five patients with occipital ulegyria who presented with widely variable seizure semiology and an array of visual deficits. In some patients, the link between the epilepsy and the visual impairment was not appreciated until they attended an epilepsy clinic.
Somatosensory reflex epilepsy: simultaneous video‐EEG monitoring and surface EMG
Authors: Hwang Kyoung Jin , Seo Dae Won , Hong Seong Bong , Joo Eun Yeon
Published: August 2019

Somatosensory reflex epilepsy is induced by repetitive cutaneous contact of a circumscribed body area with a tight time‐lock between somatosensory stimulation and seizure. We describe the case of a 27‐year‐old man with seizures induced by repetitive tapping on the sole of the right foot. Simultaneous video‐EEG monitoring and surface electromyography was performed during a seizure triggered by repetitive tapping on the right sole aspect using a hammer. Stimulation produced a tingling sensation on the right sole that extended to the right lower leg. This was followed by motor Jacksonian march of the right leg. [Published with video sequence on www.epilepticdisorders.com]
Epilepsy surgery for patients with genetic refractory epilepsy: a systematic review
Authors: Stevelink Remi , Sanders Maurits WCB. , Tuinman Maarten P. , Brilstra Eva H. , Koeleman Bobby PC. , Jansen Floor E. , Braun Kees PJ.
Published: August 2019

Aims. In recent years, many different DNA mutations underlying the development of refractory epilepsy have been discovered. However, genetic diagnostics are still not routinely performed during presurgical evaluation and reports on epilepsy surgery outcome for patients with genetic refractory epilepsy are limited. We aimed to create an overview of the literature on seizure outcome following epilepsy surgery in patients with different genetic causes of refractory epilepsy.

Methods. We systematically searched PubMed and Embase prior to January 2017 and included studies describing treatment outcome following epilepsy surgery in patients with genetic causes of epilepsy. We excluded studies in which patients were described with epilepsy due to Tuberous Sclerosis Complex or Sturge‐Weber syndrome (since this extensive body of research has recently been described elsewhere) and articles in which surgery was aimed to be palliative.

Results. We identified 24 eligible articles, comprising a total of 82 patients who had undergone surgery for (mainly childhood‐onset) refractory epilepsy due to 15 different underlying genetic causes. The success rate of surgery varied widely across these different genetic causes. Surgery was almost never effective in patients with epilepsy due to mutations in genes involved in channel function and synaptic transmission, whereas surgery was significantly more successful regarding seizure control in patients with epilepsy due to mutations in the mTOR pathway. Patients with a lesion on MRI tended to have higher seizure freedom rates than those who were MRI‐negative.

Conclusion. Although the evidence is still scarce, this systematic review suggests that studying genetic variations in patients with refractory epilepsy could help guide the selection of surgical candidates.
Two cases of opercular myoclonic‐anarthric status epilepticus
Authors: Muñoz‐Lopetegi Amaia , Fernández García de Eulate Gorka , Rodríguez‐Antigüedad Muñoz Jon , Bergareche Alberto , José Poza Juan
Published: August 2019

Opercular myoclonic‐anarthric status epilepticus (OMASE) is a rare form of epilepsia partialis continua presenting as fluctuating dysarthria, or even anarthria. The condition is caused by an epileptogenic lesion involving the opercular cortex of either hemisphere. Speech impairment is secondary to bilateral epileptic activity affecting the glossopharyngeal muscles. This bilateral nature of the condition is due to the fact that innervation of cranial nerves V, VII, IX, X and XII from the opercular area of the primary motor cortex is bilateral. The aetiology of the condition varies, and includes vascular lesions, tumours, and encephalitis, among other causes. A low threshold for clinical suspicion is necessary in order to ensure the timely initiation of antiepileptic treatment, thereby preventing the condition from becoming drug resistant. We present two cases of OMASE which differ in terms of aetiology, clinical course, and treatment response. [Published with video sequences on www.epilepticdisorders.com].
Under‐reporting of sudden unexpected death in epilepsy
Authors: Chen Sarah , Joodi Golsa , Devinsky Orrin , Sadaf Murrium I. , Pursell Irion W. , Simpson Ross J.
Published: August 2019

Aims. The identification and characterization of sudden unexpected deaths in epilepsy (SUDEP) may be improved, helping to optimize prevention and intervention. We set out to assess the frequency and demographic and clinical characteristics of SUDEP cases in a sudden death cohort.

Methods. All out‐of‐hospital deaths were investigated from March 1, 2013 to February 28, 2015 in Wake County, NC, attended by the Emergency Medical Services. Cases were screened and adjudicated by three physicians to identify sudden death cases from any cause among free‐living adults, aged 18–64. In total, 399 sudden death victims were identified during this two‐year period. Seizure history, demographic and clinical characteristics, and healthcare utilization patterns were assessed from death records, emergency response scene reports, and medical records. Sudden death cases with a history of seizures were summarized by an experienced chart abstractor (SC) and adjudicated by an experienced neurologist (OD). We then compared demographic and clinical characteristics and healthcare utilization patterns of neurologist‐identified SUDEP cases to other sudden death victims in our population‐based registry of sudden death from any cause.

Results. SUDEP accounted for 5.3% of sudden deaths. However, seizures or complications of seizures were only considered the primary cause of death on death certificates in 1.5% of sudden deaths. SUDEP cases were more likely to have a history of alcohol abuse. Mental health disorders and a low level of medication compliance and healthcare utilization were common among SUDEP victims.

Conclusions. SUDEP accounts for approximately 5.3% of sudden deaths from any cause in individuals aged between 18 and 64. Death certificates underestimate the burden of sudden death in epilepsy, attributing only 1.5% of sudden deaths to seizures or complications of seizures. Accurate documentation of epileptic disorders on death certificates is essential for the surveillance of SUDEP. Further, interventions that promote better use of medical services and patient engagement with healthy living practices may reduce sudden deaths in epilepsy.
A triad of infantile spasms, nystagmus and a focal tonic seizure
Authors: Tarodo Stephanie Garcia , Nguyen Thu , Ranza Emmanuelle , Vulliémoz Serge , Korff Christian M.
Published: August 2019

Epileptic spasms represent a subcategory of motor seizures that have been extensively documented and recently re‐classified by the International League Against Epilepsy as either generalized, focal or of unknown onset. Atypical characteristics continue to be reported in case studies, emphasizing the divergent morphological traits and putting into question the underlying aetiopathophysiology. Here, we report the findings of an infant with a triad of clinical manifestations during a single ictal event, comprising a cluster of epileptic spasms, vertical binocular nystagmus, and a focal tonic seizure. A video recording is presented that enabled clinical data to be correlated with EEG modifications. To date, a focal lesion has not been identified on brain imaging. The co‐occurrence of these ictal paroxysms provides insight into the anatomical localization of seizure onset and complex epileptic networks involved, and challenges the pathophysiological hypothesis for epileptic spasms, implicating cortical‐subcortical dysfunction and the implication of structures deep within the sulcus. Furthermore, the focal components both clinically and electrographically implicate involvement of the frontal eye field in the generation of vertical ictal nystagmus. [Published with video sequence on www.epilepticdisorders.com].
Ictal SPECT reveals different epileptogenic zones in frontal lobe epilepsy
Authors: Correia Pedro , Vollmar Christian , Rémi Jan , la Fougere Christian , Noachtar Soheyl
Published: August 2019

We report a patient with frontal lobe epilepsy due to a right frontal astrocytoma (WHO Grade III) in whom two ictal SPECTs (single photon emission tomography) were performed during two seizures with different semiology and different EEG seizure patterns. Subtraction of ictal and interictal SPECT showed right lateral frontal hyperperfusion during a left face clonic seizure, and right mesial fronto‐polar hyperperfusion during a subclinical seizure. This report demonstrates that ictal SPECT may reflect different seizure semiology from the frontal lobe of the same individual and that simultaneous EEG is indispensable for the correct interpretation of SPECT in epilepsy.