Atypical benign partial epilepsy and a new variant of SLC35A3 gene plus 2p25.1 duplication. Phenotypic-Genotypic correlation?

Abstract Background Atypical Benign Partial Epilepsy (ABPE), recognized also as pseudo-Lennox syndrome, is an uncommon form of epilepsy characterized by generalized minor seizures such as atonic, absences, or myoclonic seizures, and electroencephalographic pattern of focal or multifocal sharp waves with activation of epileptiform discharges during sleep. ABPE is indicated as a variant of ESES (ILAE classification 2017). ESES is a clinical entity that is characterized by encephalopathy with cognitive/ behavioral regression and EEG pattern of electrical status epilepticus during slow sleep. Fine and gross motor, language and social/behavioral impairment are associated symptoms, which may have reversible or persistent course. ABPE has been ascribed to the group of the “epilepsy aphasia spectrum” disorders, which includes also Rolandic Epilepsy, Landau-Kleffner syndrome, and electrical status epilepticus during sleep/continuous spike-wave during sleep. We report a young boy with a previous mild motor and language delay, who at 2-year-old presented with recurrent atonic seizures and an EEG pattern consisting of continuous spike and waves during sleep. Methods Next Generation Sequencing and microarray technology were used to investigate the molecular background of the proband, and the findings were then analyzed and integrated with clinical data. Results The child has been followed up to 7 years of age showing a progressive, complete EEG resolution and a normalization of the previous motor and cognitive impairment in association to the levetiracetam treatment. Genetic diagnosis displayed a novel heterozygous mutation c.310G>A of the SLC35A3 gene and a partial duplication of the short arm of chromosome 2, which might have pathogenic correlation with the neurological signs presented by the child. Conclusions Data generated by a genomic approach disclose a more comprehensive view of the genotype-phenotype correlation analysis for the novel pathogenic variant and ABPE. The relationship between the phenotypic manifestations of the child and genetic data is discussed.

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Electrical Status Epilepticus in Sleep: Is this a Focal or Generalized Pattern?

Journal of the International Child Neurology Association ◽

10.17724/jicna.2020.152 ◽

2020 ◽

Vol 1 (1) ◽

Author(s):

Raphael R. Almeida ◽

Ana Carolina Coan ◽

Marilisa M Guerreiro

Keyword(s):

Status Epilepticus ◽

Clinical Data ◽

Epileptiform Activity ◽

Rolandic Epilepsy ◽

Epileptiform Discharges ◽

Epileptic Syndromes ◽

Epileptic Discharges ◽

Genetic Epilepsies ◽

Rolandic Region ◽

Correlate Data

Objectives: To evaluate the spatial distribution of the epileptiform activity in electrical status epilepticus in sleep (ESES) and to correlate data from electroencephalograms (EEGs) with clinical and neuroimaging variables. Methods: From 2008 to 2015, 162 reports (1.01%) out of 16,000 EEGs, from 23 patients, showed ESES. We selected one representative EEG per patient. Clinical data was collected retrospectively. Neuroimaging examinations were reviewed. The EEGs were classified as generalized ESES (ESESg) and focal ESES (ESESf) according to the distribution of epileptiform discharges. Results: From the 23 patients, 5 were classified as ESESg and 18 as ESESf. In ESESf, there was a prevalence of focal epileptic discharges in the centrotemporal regions. Abnormal neuroimaging occurred in 100% of the patients with ESESg and in 38.9% of the patients with ESESf (p=0.037). Other clinical data did not show significant differences between the groups. All patients with ESESg had structural etiology, while only 39% of patients with ESESf had structural etiology and the remaining 61% potentially genetic epilepsies of the rolandic spectrum. Conclusion: ESESg occurred predominantly in patients with structural lesions, while most patients with ESESf had normal neuroimaging scans and electrical dysfunction mainly in the rolandic region. Significance: ESESg seems to occur mostly in structural epilepsies. Distinctly, ESESf occurs in epileptic syndromes within the functional spectrum of rolandic epilepsy.

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PROFIL KLINIS BENIGN ROLANDIC EPILEPSY (BRE) DI RSUD PASAR REBO TAHUN 2013-2018

Majalah Kedokteran Neurosains Perhimpunan Dokter Spesialis Saraf Indonesia ◽

10.52386/neurona.v36i4.84 ◽

2020 ◽

Vol 36 (4) ◽

Author(s):

Donny Hamdani Hamid ◽

Syairah Syairah ◽

Syarly Melani ◽

Astri Budikayanti

Keyword(s):

Clinical Features ◽

Significant Relationship ◽

Regional Hospital ◽

Hemispheric Lateralization ◽

Clinical Profile ◽

Rolandic Epilepsy ◽

Epileptiform Discharges ◽

Interictal Epileptiform Discharges ◽

Group I ◽

Eeg Pattern

CLINICAL PROFILE OF BENIGN ROLANDIC EPILEPSY (BRE) PASAR REBO GENERAL REGIONAL HOSPITAL 2013-2018ABSTRACTIntroduction: Benign rolandic epilepsy (BRE) is the most common focal epileptic syndromes in children, correlated with genetic abnormality, has unique clinical features and specific electroencephalogaphic (EEG) pattern. Most of BRE cases will remit spontaneously even without medication by puberty.Aims: To know the clinical profile of BRE and the association between electroencephalogaphic (EEG) pattern with and seizure types in BRE.Methods: Observational analytic cross-sectional study based on medical record of BRE cases in Pasar Rebo general regional hospital from January 2013–Desember 2018. Subjects were grouped into focal to bilateral tonic clonic seizure (group I) and focal onset seizures with impaired awareness (group II). Relationship between groups and hemispheric lateralization based on interictal epileptiform (unilateral or bilateral) using EEG was analyzed.Results: There were 22 subjects, average age of seizure onset was 7,86+2,3 years old with male-to-female ratio1,75:1. The majority of subjects (40.9%) had only received an EEG after more than 1 year of onset and only 6 (27.3%) subjects had done less than one month.. Amongst all subjects, 15 subjects (68,2%) already consumed anti epileptic drugs (AED), in which 11 subjects (73,3%) consumed valproic acid (VPA). Most common clinical features were hypersalivation and hemifacial sensorimotor symptoms with localization of interictal epileptiform discharges mainly in centro-temporal. There were no significant relationship between hemispheric lateralization of epileptiform discharge and type of seizure.Discussion: Most BRE subjects had onset of 7.86+2.3 years with the main symptoms of hypersalivation and hemifacial sensorimotor symptoms, as well as localization of interictal epileptiform discharges especially in the centro- temporal.. There were no significant relationship between hemispheric lateralization of interictal epileptiform discharges and seizure type.Keywords: BRE, clinical profiles, epilepsy syndromesABSTRAKPendahuluan: Benign rolandic epilepsy (BRE) merupakan sindrom epilepsi fokal yang paling sering ditemukan pada anak kelompok usia 1-14 tahun, berhubungan dengan kelainan genetik, memiliki gambaran klinis dan EEG khas. Sebagian besar mengalami remisi tanpa obat pada usia pubertas.Tujuan: Mengetahui karakteristik profil klinis dan hubungan antara gambaran elektroensefalografi (EEG) dengan bentuk bangkitan pada BRE.Metode: Studi potong lintang analitik observasional menggunakan data rekam medispasien yang didiagnosis BRE di Klinik Saraf RSUD Pasar Rebo, Jakarta, periode Januari 2013 hingga Desember 2018. Subjek dikelompokkan menjadi tipe bangkitan awitan fokal yang berkembang menjadi tonik klonik bilateral (grup I) dan tipe bangkitan awitan fokal dengan gangguan kesadaran (grup II), yang dihubungkan dengan lateralisasi hemisferik aktivitas epileptiform interiktal (unilateral atau bilateral) pada EEG.Hasil: Dari 22 subjek, rasio perbandingan laki-laki:perempuan sebesar 1,75:1 dan rerata usia awitan bangkitan adalah 7,86+2,3 tahun. Mayoritas subjek (40,9%) baru dilakukan EEG setelah lebih dari 1 tahun dari awitan dan hanya 6 subjek (27,3%) yang dilakukan kurang dari satu bulan. Pada 15 subjek (68,2%) telah mengkonsumsi obat antiepilepsi (OAE) yang sebagian besar berupa asam valproat (73,3%). Gambaran klinis utama adalah hipersalivasi dan gejala sensorimotor hemifasial dengan lokalisasi cetusan epileptiform interiktal terutama di sentro-temporal. Tidak didapatkan hubungan bermakna antara lateralisasi hemisferik aktivitas epileptiform interiktal dengan bentuk bangkitan.Diskusi: Sebagian besar subjek BRE mengalami usia awitan bangkitan 7,86+2,3 tahun dengan gejala utama hipersalivasi dan gejala sensorimotor hemifasial, serta lokalisasi cetusan epileptiform interiktal terutama di sentro-temporal. Tidak didapatkan hubungan bermakna antara lateralisasi aktivitas epileptiform interiktal dengan jenis bangkitan pada BRE.Kata kunci: BRE, profil klinis, sindrom epilepsi

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Study of EEG pattern of children with status epilepticus at tertiary health care center

MedPulse International Journal of Pediatrics ◽

10.26611/10142015 ◽

2021 ◽

Vol 20 (1) ◽

pp. 21-26

Author(s):

Sunil S Holikar ◽

Keyword(s):

Health Care ◽

Status Epilepticus ◽

Care Center ◽

Health Care Center ◽

Eeg Pattern

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P394: EEG pattern related with the administration of ketamine in the treatment of refractory status epilepticus mimicking extreme delta brush: a case report

Clinical Neurophysiology ◽

10.1016/s1388-2457(14)50503-2 ◽

2014 ◽

Vol 125 ◽

pp. S154-S155

Author(s):

C. Lazo La Torre ◽

M. Vicente Rasoamalala ◽

E. Lainez Samper ◽

R. Rossich Verdes ◽

M. Veciana de las Heras ◽

...

Keyword(s):

Case Report ◽

Status Epilepticus ◽

Refractory Status Epilepticus ◽

Refractory Status ◽

Eeg Pattern

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Early Epileptiform Discharges and Clinical Signs Predict Nonconvulsive Status Epilepticus on Continuous EEG

Neurocritical Care ◽

10.1007/s12028-018-0563-3 ◽

2018 ◽

Vol 29 (3) ◽

pp. 388-395 ◽

Cited By ~ 2

Author(s):

Johannes Koren ◽

Johannes Herta ◽

Simone Draschtak ◽

Georg Pötzl ◽

Franz Fürbass ◽

...

Keyword(s):

Status Epilepticus ◽

Clinical Signs ◽

Nonconvulsive Status Epilepticus ◽

Epileptiform Discharges ◽

Continuous Eeg

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Neurologic outcome of postanoxic refractory status epilepticus after aggressive treatment

Neurology ◽

10.1212/wnl.0000000000006615 ◽

2018 ◽

Vol 91 (23) ◽

pp. e2153-e2162 ◽

Cited By ~ 17

Author(s):

Simone Beretta ◽

Anna Coppo ◽

Elisa Bianchi ◽

Clara Zanchi ◽

Davide Carone ◽

...

Keyword(s):

Cardiac Arrest ◽

Status Epilepticus ◽

Refractory Status Epilepticus ◽

Neurologic Outcome ◽

Low Flow ◽

Prognostic Indicators ◽

Prolonged Treatment ◽

Periodic Pattern ◽

Refractory Status ◽

Eeg Pattern

ObjectiveTo investigate neurologic outcome of patients with cardiac arrest with refractory status epilepticus (RSE) treated with a standardized aggressive protocol with antiepileptic drugs and anesthetics compared to patients with other EEG patterns.MethodsIn the prospective cohort study, 166 consecutive patients with cardiac arrest in coma were stratified according to 4 independent EEG patterns (benign, RSE, generalized periodic discharges [GPDs], malignant nonepileptiform) and multimodal prognostic indicators. Primary outcomes were survival and cerebral performance category (CPC) at 6 months.ResultsRSE occurred in 36 patients (21.7%) and was treated with an aggressive standardized protocol as long as multimodal prognostic indicators were not unfavorable. RSE started after 3 ± 2.3 days after cardiac arrest and lasted 4.7 ± 4.3 days. A benign EEG pattern was recorded in 76 patients (45.8%); a periodic pattern (GPDs) was seen in 13 patients (7.8%); and a malignant nonepileptiform EEG pattern was recorded in 41 patients (24.7%). The 4 EEG patterns were highly associated with different prognostic indicators (low-flow time, clinical motor seizures, N20 responses, neuron-specific enolase, neuroimaging). Survival and good neurologic outcome (CPC 1 or 2) at 6 months were 72.4% and 71.1% for benign EEG pattern, 54.3% and 44.4% for RSE, 15.4% and 0% for GPDs, and 2.4% and 0% for malignant nonepileptiform EEG pattern, respectively.ConclusionsAggressive and prolonged treatment of RSE may be justified in patients with cardiac arrest with favorable multimodal prognostic indicators.

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Higher mortality rate is associated with advanced age and periodic lateralized epileptiform discharges in patients with refractory status epilepticus

Arquivos de Neuro-Psiquiatria ◽

10.1590/s0004-282x2013000300005 ◽

2013 ◽

Vol 71 (3) ◽

pp. 153-158 ◽

Cited By ~ 7

Author(s):

Paulo Breno Noronha Liberalesso ◽

Eliana Garzon ◽

Elza M.T. Yacubian ◽

Américo C. Sakamoto

Keyword(s):

Status Epilepticus ◽

Mortality Rate ◽

Clinical Data ◽

Focal Epilepsy ◽

Refractory Status Epilepticus ◽

Advanced Age ◽

Neurological Sequelae ◽

Epileptiform Discharges ◽

Refractory Status ◽

Treatment Morbidity

ObjectiveTo evaluate clinical data, electroencephalogram, etiology, classification, treatment, morbidity, and mortality in acute refractory status epilepticus.MethodsFifteen patients, mean age of 41.3 years-old, six males, with refractory status epilepticus, were retrospectively studied. All of them were followed by serial electroencephalogram or continuous electroencephalographic monitoring.ResultsThe most common comorbidity was hypertension. Seven (46.7%) patients were diagnosed with previous symptomatic focal epilepsy. More than one etiology was identified in 40.0% of the cases. Status epilepticus partial complex was the most common (n=14, 93.3%), and discrete seizures were the most observed initial ictal pattern. Continuous intravenous midazolam was used in nine (60.0%) patients and continuous thiopental in three (20.0%). Nine (60.0%) participants died, one (6.6%) had neurological sequelae, and five (33.3%) presented no neurological sequelae.ConclusionsHigher mortality rate was associated with advanced age and periodic lateralized epileptiform discharges. Midazolam proved to be a safe drug. The refractory status epilepticus is related to high mortality.

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SPECT in periodic lateralized epileptiform discharges (PLEDs): a form of partial status epilepticus?

Seizure ◽

10.1053/seiz.2000.0506 ◽

2001 ◽

Vol 10 (4) ◽

pp. 260-264 ◽

Cited By ~ 62

Author(s):

F Assal ◽

J.P Papazyan ◽

D.O Slosman ◽

P Jallon ◽

G.W Goerres

Keyword(s):

Status Epilepticus ◽

Epileptiform Discharges ◽

Partial Status Epilepticus ◽

Partial Status

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New and Inherited STAT1 Mutations in a Chinese Family with Chronic Mucocutaneous Candidiasis: A Case Report

Iranian Journal of Public Health ◽

10.18502/ijph.v49i6.3369 ◽

2020 ◽

Author(s):

Xiaoheng XU ◽

Wenxia MENG ◽

Lu FENG ◽

Wei GUO

Keyword(s):

Human Gene ◽

Genetic Diagnosis ◽

Chinese Family ◽

Heterozygous Mutation ◽

Chronic Mucocutaneous Candidiasis ◽

Dna Binding Domain ◽

Oral Medicine ◽

Mucocutaneous Candidiasis ◽

Mutation Database ◽

First Time

A mild clinical Chronic Mucocutaneous Candidiasis (CMC) phenotype with STAT1 transcription factor mutation has been identified in a Chinese family. It is a rare variant in STAT1 (NM_0073315.3c.1175T>C Met392Thr). Specifically, it is a heterozygous mutation. To date, the pathogenicity of this variant in STAT1 (NM_0073315.3c.1175T>C Met392Thr) for CMC has not been reported in the Human Gene Mutation Database. Thus, this is the first report about STAT1 mutation found in CMC patients from Chinese ethnic group. This study also shows the mutation on the DNA-binding domain of STAT1 for the first time. The findings will broaden the spectrum of STAT1 mutations and facilitate genetic diagnosis by the oral medicine specialists.

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