Identification of a Novel Nonsense Variant in the SCN1A Gene that Causes Febrile Seizure Disorder

2017 ◽  
Vol 16 (04) ◽  
pp. 236-238
Author(s):  
Nabila MarchoudI ◽  
Abdelfettah Rouissi ◽  
Jamal Fekkak ◽  
Farah Jouali
Keyword(s):  
Febrile Seizure ◽  
Febrile Seizures ◽  
Seizure Disorder ◽  
Gene Encoding ◽  
Seizure Disorders ◽  
Severe Myoclonic Epilepsy ◽  
Epilepsy Gene ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus ◽  
Scn1a Gene

AbstractThe SCN1A gene, encoding for the voltage-gated sodium channel Nav1.1, is the most clinically relevant epilepsy gene, with most mutations having been documented in a spectrum of epilepsy syndromes, ranging from the relatively benign generalized epilepsy with febrile seizures plus (GEFS+) to severe myoclonic epilepsy in infancy (SMEI), and other rare febrile seizure disorders. To date, more than 1,250 mutations in SCN1A have been linked to epilepsy. In this case, we describe a novel nonsense pathogenic variant (NM_001202435.1; c.327C > G) in SCN1A in a 10-month Moroccan infant with febrile seizure disorder.

De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+)

2012 ◽  
Vol 102 (3) ◽  
pp. 210-215
Author(s):  
Emmilia Husni Tan ◽  
Salmi Abdul Razak ◽  
Jafri Malin Abdullah ◽  
Abdul Aziz Mohamed Yusoff
Keyword(s):  
Genetic Variation ◽  
De Novo ◽  
Febrile Seizures ◽  
De Novo Mutations ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus ◽  
Scn1a Gene

scholarly journals Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family

2020 ◽  
Vol 41 (7) ◽  
pp. 1913-1917 ◽  
Author(s):  
Tian Zhang ◽  
Mingwu Chen ◽  
Angang Zhu ◽  
Xiaoguang Zhang ◽  
Tao Fang
Keyword(s):  
Sodium Channel ◽  
Febrile Seizures ◽  
Chinese Family ◽  
Heterozygous Mutation ◽  
Gene Encoding ◽  
Voltage Gated Sodium Channel ◽  
Α Subunit ◽  
Voltage Gated ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus

Abstract Generalized epilepsy with febrile seizures plus (GEFS+) is a complex familial epilepsy syndrome. It is mainly caused by mutations in SCN1A gene, encoding type 1 voltage-gated sodium channel α-subunit (NaV1.1), and GABRA1 gene, encoding the α1 subunit of the γ-aminobutyric acid type A (GABAA) receptor, while seldom related with SCN9A gene, encoding the voltage-gated sodium channel NaV1.7. In this study, we investigated a Chinese family with an autosomal dominant form of GEFS+. DNA sequencing of the whole coding region revealed a novel heterozygous nucleotide substitution (c.5873A>G) causing a missense mutation (p.Y1958C). This mutation was predicted to be deleterious by three different bioinformatics programs (The polyphen2, SIFT, and MutationTaster). Our finding reports a novel likely pathogenic SCN9A Y1958C heterozygous mutation in a Chinese family with GEFS+ and provides additional supports that SCN9A variants may be associated with human epilepsies.

Genetic epilepsy with febrile seizures plus

Neurology ◽  
2017 ◽  
Vol 89 (12) ◽  
pp. 1210-1219 ◽  
Author(s):  
Yue-Hua Zhang ◽  
Rosemary Burgess ◽  
Jodie P. Malone ◽  
Georgie C. Glubb ◽  
Katherine L. Helbig ◽  
...  
Keyword(s):  
Genetic Data ◽  
Febrile Seizures ◽  
Original Description ◽  
Molecular Data ◽  
Genetic Determinants ◽  
Genetic Epilepsy ◽  
Phenotypic Spectrum ◽  
Clonic Seizures ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus

Objective:Following our original description of generalized epilepsy with febrile seizures plus (GEFS+) in 1997, we analyze the phenotypic spectrum in 409 affected individuals in 60 families (31 new families) and expand the GEFS+ spectrum.Methods:We performed detailed electroclinical phenotyping on all available affected family members. Genetic analysis of known GEFS+ genes was carried out where possible. We compared our phenotypic and genetic data to those published in the literature over the last 19 years.Results:We identified new phenotypes within the GEFS+ spectrum: focal seizures without preceding febrile seizures (16/409 [4%]), classic genetic generalized epilepsies (22/409 [5%]), and afebrile generalized tonic-clonic seizures (9/409 [2%]). Febrile seizures remains the most frequent phenotype in GEFS+ (178/409 [44%]), followed by febrile seizures plus (111/409 [27%]). One third (50/163 [31%]) of GEFS+ families tested have a pathogenic variant in a known GEFS+ gene.Conclusion:As 37/409 (9%) affected individuals have focal epilepsies, we suggest that GEFS+ be renamed genetic epilepsy with febrile seizures plus rather than generalized epilepsy with febrile seizures plus. The phenotypic overlap between GEFS+ and the classic generalized epilepsies is considerably greater than first thought. The clinical and molecular data suggest that the 2 major groups of generalized epilepsies share genetic determinants.

scholarly journals Pattern of Electroencephalography in Recurrent Febrile Seizure Patient

2019 ◽  
Vol 3 (12) ◽  
pp. 471-474
Author(s):  
Adinda Chairunnisa ◽  
Prastiya Indra Gunawan ◽  
Isti Suharjanti
Keyword(s):  
Medical Record ◽  
Febrile Seizure ◽  
Pediatric Population ◽  
Febrile Seizures ◽  
Simple Complex ◽  
Abnormal Result ◽  
Prolonged Effect ◽  
Febrile Seizures Plus ◽  
Descriptive Method ◽  
Eeg Pattern

Background: Febrile seizures are seizures that often occur in children, usually of a non-hazardous nature and do not have a prolonged effect. Febrile seizures most often occur in children under five years of age and are reported to occur in 2-5% of the pediatric population. Febrile seizures are categorized as simple, complex and plus febrile seizures. In some patients, EEG is needed to ascertain whether a true febrile seizure occurs. Objective: This study aims to determine the EEG pattern in recurrent febrile seizure patients at the Child Inpatient Installation of Dr. Soetomo Surabaya. Method: This study used a retrospective descriptive method with medical record instruments. Results: This study showed that of 46 recurrent febrile seizures, only 21 patients could see the EEG results. Of the 18 patients with complicated febrile seizures there were 27.78% abnormal and 72.22% normal. One simple febrile seizure patient obtained a normal EEG result. Of the two patients with febrile seizures plus 50% abnormal results and 50% normal results. Conclusions: The EEG pattern in patients with recurring complex febrile seizure obtains the most abnormal result. Keywords: recurrent febrile seizure; electroencephalography; prevalence

scholarly journals A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33

1999 ◽  
Vol 65 (4) ◽  
pp. 1078-1085 ◽  
Author(s):  
Stéphanie Baulac ◽  
Isabelle Gourfinkel-An ◽  
Fabienne Picard ◽  
Myriam Rosenberg-Bourgin ◽  
Jean-François Prud'homme ◽  
...  
Keyword(s):  
Febrile Seizures ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus

Functional characterization of the D188V mutation in neuronal voltage-gated sodium channel causing generalized epilepsy with febrile seizures plus (GEFS)

2003 ◽  
Vol 53 (1-2) ◽  
pp. 107-117 ◽  
Author(s):  
Patrick Cossette ◽  
Andrew Loukas ◽  
Ronald G. Lafrenière ◽  
Daniel Rochefort ◽  
Eric Harvey-Girard ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Functional Characterization ◽  
Febrile Seizures ◽  
Voltage Gated Sodium Channel ◽  
Voltage Gated ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus

scholarly journals Functional and Biochemical Analysis of a Sodium Channel β1 Subunit Mutation Responsible for Generalized Epilepsy with Febrile Seizures Plus Type 1

2002 ◽  
Vol 22 (24) ◽  
pp. 10699-10709 ◽  
Author(s):  
Laurence S. Meadows ◽  
Jyoti Malhotra ◽  
Andrew Loukas ◽  
Veena Thyagarajan ◽  
Kristin A. Kazen-Gillespie ◽  
...  
Keyword(s):  
Sodium Channel ◽  
Biochemical Analysis ◽  
Febrile Seizures ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus
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