scholarly journals P.020 Novel GRIN2A variant in family members with variable phenotypic expression of epilepsy

2018 ◽  
Vol 45 (s2) ◽  
pp. S21-S21
Author(s):  
A Alanezi ◽  
C Campbell ◽  
N Karp ◽  
A Andrade
Keyword(s):  
Status Epilepticus ◽  
Language Development ◽  
Clinical Phenotype ◽  
Family Members ◽  
Phenotypic Expression ◽  
Epileptic Encephalopathy ◽  
Eeg Abnormalities ◽  
Language Regression ◽  
Eeg Features ◽  
Spike Wave

Background: Epilepsy aphasia spectrum of disorders is characterized by developmental and language regression with EEG abnormalities that include electrical status epilepticus of sleep (ESES). Landau-Kleffner syndrome (LKS) and epileptic encephalopathy with continuous spike-wave during sleep (CSWS) are the most severe presentations. GRIN2A mutations have been recognized as causative. Methods: we present two sisters with different epilepsy phenotypes. A variant of unknown clinical significance (VUS) in GRIN2A gene was found in one of the sisters and her similarly affected father. Results: The first sister presented with focal onset seizures at the age of 3 years accompanied by language and cognitive regression and EEG features consistent of ESES, meeting criteria for LKS. Multiple anticonvulsants were tried until she responded well to steroids regaining developmental milestones. Her 5-year-old sister recently presented with focal onset seizures. Her language development is appropriate. Her EEG showed independent multifocal spikes but no ESES during sleep. Her seizures were controlled on monotherapy anticonvulsants. Conclusions: We observed a variable EEG-clinical phenotype and different severity among these family members as expected with GRIN2A-related disorders. This report contributes to evidence of the GRIN2A variant pathogenicity.

scholarly journals Epileptic Encephalopathies with Status Epilepticus during Sleep: New Techniques for Understanding Pathophysiology and Therapeutic Options

2012 ◽  
Vol 2012 ◽  
pp. 1-6 ◽  
Author(s):  
Daniela Brazzo ◽  
Maria Carmela Pera ◽  
Marco Fasce ◽  
Grazia Papalia ◽  
Umberto Balottin ◽  
...  
Keyword(s):  
Status Epilepticus ◽  
Treatment Guidelines ◽  
Task Force ◽  
Epileptiform Activity ◽  
Clinical Manifestations ◽  
Epileptic Encephalopathy ◽  
Computer Assisted ◽  
Paroxysmal Activity ◽  
New Techniques ◽  
Eeg Abnormalities

Encephalopathy with status epilepticus during sleep (ESES) is an epileptic encephalopathy, as defined by the International League Against Epilepsy (ILAE) Task Force on Classification and Terminology, that is, a condition in which the epileptic processes themselves are believed to contribute to the disturbance in cerebral function. Clinical manifestations of ESES are heterogeneous: apart from different seizure types, they consist in combinations of cognitive, motor, and behavioural disturbances associated with a peculiar electroencephalographic pattern of paroxysmal activity significantly activated during slow sleep, which culminates in a picture of continuous spikes and waves during sleep (CSWS). The pathophysiological mechanisms underlying this condition are still incompletely understood. Establishing a clear-cut correlation between EEG abnormalities and clinical data, though interesting, is very complex. Computer-assisted EEG analyses especially if combined with functional magnetic resonance imaging (EEG-fMRI) and metabolic neuroimaging have recently emerged as useful approaches to better understand the pathophysiological processes underlying ESES. Treatment of ESES is not just limited to seizures control but it should be focused on controlling neuropsychological outcome through an improvement of the continuous epileptiform activity. General agreement on treatment guidelines is still lacking. Implementation of new techniques might allow a better understanding of the pathophysiology of ESES and could enhance therapeutics options.

Atypical Evolutions of Idiopathic Focal Epilepsies in Childhood

2016 ◽  
Vol 05 (03) ◽  
pp. 122-132
Author(s):  
Roberto Caraballo ◽  
Santiago Flesler ◽  
Natalio Fejerman
Keyword(s):  
Status Epilepticus ◽  
Focal Epilepsy ◽  
Childhood Epilepsy ◽  
Significant Percentage ◽  
Epileptic Encephalopathies ◽  
Atypical Features ◽  
Eeg Abnormalities ◽  
Number Of Patients ◽  
Panayiotopoulos Syndrome ◽  
Eeg Features

Clinical and electroencephalographic (EEG) features of the three well-defined idiopathic focal epilepsies in childhood (IFEC)—benign childhood epilepsy with centrotemporal spikes (BCECTS), Panayiotopoulos syndrome, and the Gastaut type of idiopathic occipital epilepsy of childhood (IOEC-G)—have been clearly described and reported. It is also known that a significant percentage of children with IFEC present what were named atypical features in seizures and EEG abnormalities. We are studying here the small number of patients with IFEC who not only present atypical features, but also evolve into the spectrum of epileptic encephalopathies related with continuous spike-and-wave during sleep (CSWSS) or electrical status epilepticus during sleep (ESES), which includes atypical benign focal epilepsy of childhood, status of BCECTS, Landau-Kleffner syndrome, and CSWSS or ESES syndrome. We also emphasize that some patients with these encephalopathic course of IFEC present a mix or a sequence in time of the four mentioned subsyndromes.

scholarly journals Autonomic seizures and autonomic status epilepticus in early onset benign childhood occipital epilepsy (Panayiotopoulos syndrome)

2006 ◽  
Vol 64 (3b) ◽  
pp. 723-726 ◽  
Author(s):  
Gloria Maria Almeida Souza Tedrus ◽  
Lineu Corrêa Fonseca
Keyword(s):  
Status Epilepticus ◽  
Early Onset ◽  
Brain Lesions ◽  
Motor Symptoms ◽  
Autonomic Symptoms ◽  
Visual Symptoms ◽  
Occipital Spikes ◽  
Panayiotopoulos Syndrome ◽  
Eeg Features ◽  
Spike Wave

To study clinical and EEG features of children with ictal vomiting and no underlying brain lesions (Panayiotopoulos syndrome). The subjects were 36 children aged 2-13 years. The onset of seizures occurred between 1 and 5 years of age. Fourteen children (38.8%) had a single seizure. Fourteen children (38.8%) had autonomic status epilepticus. Impairment of consciousness was reported in 30 (83.3%) children, eye deviation in 10 (27.7%) other autonomic symptoms and head deviation in 9, generalization in 8, visual symptoms in one child, and, speech arrest or hemifacial motor symptoms in 8 cases. The EEG showed occipital spikes or spike-wave complexes in 27 (75.0%) children, blocked by opening of the eyes in 8 (22.2%) cases. Nine patients (25%) also had rolandic spikes and 3 had extraoccipital spikes. Six (16.6%) patients had normal EEG. No clinical differences were observed between patients having occipital or extraoccipital spikes. In children only with autonomic seizures, the spikes are predominantly occipital but blockage by opening of the eyes is a less frequent feature. In some children there is an overlapping of different focal childhood idiopathic syndromes.

scholarly journals Chlorpromazine-induced status epilepticus: A case report

2013 ◽  
Vol 141 (9-10) ◽  
pp. 667-670 ◽  
Author(s):  
Dragana Momcilovic-Kostadinovic ◽  
Perisa Simonovic ◽  
Dusan Kolar ◽  
Nebojsa Jovic
Keyword(s):  
Case Report ◽  
Status Epilepticus ◽  
Antipsychotic Agents ◽  
Epileptic Activity ◽  
Psychomotor Development ◽  
Epileptiform Discharges ◽  
Eeg Abnormalities ◽  
History Of ◽  
Neuroleptic Agent ◽  
Spike Wave

Introduction. It is largely known that some antipsychotic agents could have proconvulsive and proepileptogenic effects in some patients and could induce EEG abnormalities as well. However, the association of status epilepticus with certain antipsychotic drugs has been very rarely reported. Case Report. A case of an 18-year-old adolescent girl, with chlorpromazine therapy started for anxiety-phobic disorder was reported. Her personal history disclosed delayed psychomotor development. Shortly after the introduction of the neuroleptic chlorpromazine therapy in minimal daily dose (37.5 mg), she developed myoclonic status epilepticus, confirmed by the EEG records. Frequent, symmetrical bilateral myoclonic jerks and altered behavior were associated with bilateral epileptiform discharges of polyspikes and spike-wave complexes. This epileptic event lasted 3.5 hours and it was stopped by the parenteral administration of valproate and lorazepam; she was EEG monitored until stable remission. Status epilepticus as initial epileptic event induced by neuroleptic agent was not previously reported in our national literature. Conclusion. Introduction of chlorpromazine to a patient without history of seizures is associated with the evolution of an epileptic activity, including the occurrence of status epilepticus. Clinical evaluation of the risk factors possibly related to chlorpromazine-induced seizure is recommended in individual patients before administering this drug.

Schlaf und Epilepsie

2019 ◽  
Vol 19 (03) ◽  
pp. 186-193
Author(s):  
Bernhard Schmitt
Keyword(s):  
Status Epilepticus ◽  
Klinische Symptomatik ◽  
Grand Mal ◽  
Spike Wave

ZusammenfassungSchlaf und Epilepsie stehen in enger Beziehung zueinander. 20 % der Epilepsiepatienten erleiden Anfälle nur in der Nacht, 40 % nur am Tag und 35 % bei Tag und Nacht. Kinder mit Panayiotopoulos-Syndrom oder Rolando-Epilepsie erleiden ihre Anfälle vorwiegend im Schlaf und zeigen im NREM-Schlaf eine Zunahme der Spike-waves. ESES (elektrischer Status epilepticus im Schlaf) und Landau-Kleffner-Syndrom sind epileptische Enzephalopathien mit ausgeprägten kognitiven Einbrüchen, Verhaltensauffälligkeiten und Anfällen. Kennzeichnend ist eine kontinuierliche Spike-wave-Aktivität im NREM-Schlaf. Patienten mit juveniler Myoklonusepilepsie oder Aufwach-Grand-Mal-Epilepsie haben ihre Anfälle nach dem Aufwachen, nicht selten nach vorausgehendem Schlafentzug. Nächtliche Frontallappen-Anfälle werden oft mit Parasomnien verwechselt. Für eine korrekte Zuordnung ist es hilfreich, die klinische Symptomatik und die Häufigkeit pro Nacht und Monat in die Beurteilung mit einzubeziehen. Nächtliche Anfälle und Antikonvulsiva wirken sich auf den Schlaf aus. Schlafstörungen sollten erkannt und behandelt werden, da dies die Anfallskontrolle und Lebensqualität verbessern kann. Bei Verdacht auf Epilepsie und nicht schlüssigem Wach-EEG können Schlaf-EEGs hilfreich sein. Abhängig von der Fragestellung kann das EEG im Mittagsschlaf (natürlicher Schlaf oder medikamentös induziert), während der Nacht oder nach vorausgehendem Schlafentzug stattfinden.

A De Novo Dominant Negative Mutation in DNM1L Causes Sudden Onset Status Epilepticus with Subsequent Epileptic Encephalopathy

2019 ◽  
Vol 50 (03) ◽  
pp. 197-201
Author(s):  
S. Schmid ◽  
M. Wagner ◽  
C. Goetz ◽  
C. Makowski ◽  
P. Freisinger ◽  
...  
Keyword(s):  
Status Epilepticus ◽  
Missense Mutation ◽  
De Novo ◽  
Mitochondrial Fission ◽  
Refractory Status Epilepticus ◽  
Sudden Onset ◽  
Epileptic Encephalopathy ◽  
Neurologic Outcome ◽  
Dominant Negative Mutation ◽  
Refractory Status

AbstractMitochondrial dynamics such as fission and fusion play a vital role in normal brain development and neuronal activity. DNM1L encodes a dynamin-related protein 1 (Drp1), which is a GTPase essential for proper mitochondrial fission. The clinical phenotype of DNM1L mutations depends on the degree of mitochondrial fission deficiency, ranging from severe encephalopathy and death shortly after birth to initially normal development and then sudden onset of refractory status epilepticus with very poor neurologic outcome. We describe a case of a previously healthy 3-year-old boy with a mild delay in speech development until the acute onset of a refractory status epilepticus with subsequent epileptic encephalopathy and very poor neurologic outcome. The de novo missense mutation in DNM1L (c.1207C > T, p.R403C), which we identified in this case, seems to determine a unique clinical course, strikingly similar to four previously described patients in literature with the identical de novo heterozygous missense mutation in DNM1L.

RHOBTB2 p.Arg511Trp Mutation in Early Infantile Epileptic Encephalopathy-64: Review and Case Report

2021 ◽  
Author(s):  
J Fonseca ◽  
C Melo ◽  
C Ferreira ◽  
M Sampaio ◽  
R Sousa ◽  
...  
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Status Epilepticus ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epileptic Encephalopathy ◽  
Btb Domain ◽  
Pathogenic Variants ◽  
Severe Intellectual Disability ◽  
Whole Exome

AbstractEarly infantile epileptic encephalopathy-64 (EIEE 64), also called RHOBTB2-related developmental and epileptic encephalopathy (DEE), is caused by heterozygous pathogenic variants (EIEE 64; MIM#618004) in the Rho-related BTB domain-containing protein 2 (RHOBTB2) gene. To date, only 13 cases with RHOBTB2-related DEE have been reported. We add to the literature the 14th case of EIEE 64, identified by whole exome sequencing, caused by a heterozygous pathogenic variant in RHOBTB2 (c.1531C > T), p.Arg511Trp. This additional case supports the main features of RHOBTB2-related DEE: infantile-onset seizures, severe intellectual disability, impaired motor functions, postnatal microcephaly, recurrent status epilepticus, and hemiparesis after seizures.

scholarly journals Mr. Potato Head

2019 ◽  
pp. 468-487
Author(s):  
Nancy Foldvary-Schaefer ◽  
Thapanee Somboon ◽  
Zahreddin Alsheikhtaha
Keyword(s):  
Sleep Apnea ◽  
Sleep Disorders ◽  
Developmental Delay ◽  
Epileptic Encephalopathy ◽  
Electrode Placement ◽  
Age Related ◽  
Generalized Epilepsy ◽  
Patients With Epilepsy ◽  
Spike Wave

This case illustrates diagnostic challenges in patients with epilepsy and suspected sleep disorders. Specifically, the symptomatic generalized epilepsy Lennox-Gastaut syndrome is an age-related epileptic encephalopathy characterized by developmental delay; multiple seizure types, including tonic seizures in drowsiness and sleep; and generalized slow spike-wave complexes on electroencephalography (EEG). Tonic seizures in sleep can be unrecognized or can be confused with sleep disorders such as sleep apnea. The case demonstrates how to identify generalized epileptic abnormalities and seizures on the limited EEG montage used in routine polysomnography and expanded EEG using the 10-20 system of electrode placement.

scholarly journals Corticosteroids versus clobazam in epileptic encephalopathy with ESES: a European multicentre randomised controlled clinical trial (RESCUE ESES*)

Trials ◽  
2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Bart van den Munckhof ◽  
◽  
Alexis Arzimanoglou ◽  
Emilio Perucca ◽  
Heleen C. van Teeseling ◽  
...  
Keyword(s):  
Cognitive Functioning ◽  
Treatment Response ◽  
Controlled Trial ◽  
Epileptic Encephalopathy ◽  
Cognitive Outcome ◽  
Controlled Study ◽  
Controlled Clinical Trial ◽  
Epilepsy Syndrome ◽  
Eeg Abnormalities ◽  
Randomised Controlled

Abstract Background Epileptic encephalopathy with electrical status epilepticus in sleep (ESES) is an epilepsy syndrome occurring almost exclusively in children, usually at an age between 4 and 12 years. It is characterised by abundant sleep-induced epileptic activity in the electroencephalogram (EEG) and by acquired cognitive and behavioural deficits. The goal of treatment is to prevent further decline or even improve cognitive functioning. Based on mostly small and retrospective studies, corticosteroids and clobazam are regarded by many clinicians as the most effective pharmacological treatments. This European multicentre randomised controlled trial is designed to compare the effects of corticosteroids and clobazam on cognitive functioning after 6 months. Secondary outcomes include cognitive functioning after 18 months, EEG abnormalities in sleep, safety and tolerability, and seizure frequency. We also aimed at investigating whether treatment response in epileptic encephalopathy with ESES can be predicted by measurement of inflammatory mediators and autoantibodies in serum. Methods The pragmatic study will be performed in centres with expertise in the treatment of rare paediatric epilepsy syndromes across Europe. A total of 130 patients, 2 to 12 years of age, with epileptic encephalopathy with ESES will be enrolled and randomised in a 1:1 ratio to receive either corticosteroids (monthly intravenous methylprednisolone pulses or daily oral prednisolone) or oral clobazam for 6 months according to an open-label parallel-group design. Follow-up visits with clinical assessment, EEGs, and neuropsychological testing are scheduled for up to 18 months. Blood samples for cytokine and autoantibody testing are obtained before treatment and 8 months after treatment initiation. Discussion The treatment of epileptic encephalopathy with ESES aims at improving cognitive outcome. This randomised controlled study will compare the most frequently used treatments, i.e. corticosteroids and clobazam. If the study proves superiority of one treatment over the other or identifies biomarkers of treatment response, results will guide clinicians in the early treatment of this severe epilepsy syndrome. Trial registration ISRCTN, ISRCTN42686094. Registered on 24 May 2013.

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