scholarly journals Sodium channels of SCNIA gene mutations in generalized epilepsy with febrile seizure plus (GEFS+) spectrum related to autism

2010 ◽  
Vol 50 (3) ◽  
pp. 125
Author(s):  
Elisabeth Herini ◽  
Yudha Patria ◽  
Gunadi Gunadi ◽  
Surini Yusoff ◽  
Indra SAri Kusuma Harahap ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Febrile Seizures ◽  
Chromatography Analysis ◽  
Indonesian Population ◽  
A Subunit ◽  
Dsm Iv ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus ◽  
Intron 4 ◽  
Intron 2

Background Mutations in the a-subunit of the first neuronalsodium channel gene SCNIA have been demonstrated forgeneralized epilepsy \\lith febrile seizures plus (GEFS+), severemyoclonic epilepsy in infancy (SMEI), and borderline SMEI(SMEB). SCNIA mutations are also described in patients 'Withpsychiatric disorders such as autism.Objective To identify the mutations of SCNIA gene in patientswith GEFS+ spectrum which may be related to autism.Methods We examined four patients v.ith autism and GEFS+spectrum who were admitted to the Department of Child Health,Sardjito Hospital, Yogyakarta, Indonesia. Diagnosis of autism wasbased on DSM􀁟IV;ICD X criteria. Mutations in SCNIA wereidentified by PCRamplification and denaturing high􀁟performanceliquid chromatography analysis, Mth subsequent sequencing.Results There were four patients, all boys, aged 1.8 year to 7 years.The phenotypes of epilepsy were GEFS+ in one patient, SMEBin one patient and SMEI in two patients. Sequencing analysisrevealed a G􀁟to􀁟A heterozygous transition which was detectedat nucleotide c.4834G>A (p.V1612I ) in exon 25. Other singlenucleotid polymorphisms (SNPs) were c.383 +66T>C in intron 2,c.603-91G>A and c.603-1060> T in intron 4, c.965-21C> T inintron 6, c.1028+21T>Cin intron 7, c.2173G>A in exon 12 andc. 2177-38C>A, c.2177-12delT, c.2176+44C> T in intron 12.Conclusion In this study, we reported the first cases Mth mutationin SCNIA gene in GEFS+ spectrum related to autistic patientsin Indonesian population, which showed a missense mutationp.V16121. [Paediatr lndones. 2010;50:125-32].

SCN1B Gene: A Close Relative to SCN1A

2021 ◽  
Author(s):  
Elisa Pasquetti ◽  
Manuela Lo Bianco ◽  
Federica Sullo ◽  
Francesca Patanè ◽  
Laura Sciuto ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Febrile Seizures ◽  
Dravet Syndrome ◽  
Close Relative ◽  
Epilepsy Syndrome ◽  
Neuronal Function ◽  
Excitable Cells ◽  
Epileptic Encephalopathies ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus

AbstractOne of the first reported genes associated with epilepsy was SCN1B, which encodes for β-subunit of voltage-gated sodium channel of excitable cells and it is critical for neuronal function in both central and peripheral nervous system. β-subunits modulate the expression levels and functional properties of sodium channels and though their immunoglobulin domains may mediate interactions between channels and other proteins. Traditionally, SCN1B mutations were associated with generalized epilepsy with febrile seizures plus, a familial epilepsy syndrome characterized by heterogeneous phenotypes including febrile seizures (FS), febrile seizures plus (FS + ), mild generalized epilepsies, and severe epileptic encephalopathies. Throughout the years, SCN1B mutations have been also associated with Dravet syndrome and, more recently, with developmental and epileptic encephalopathies, expanding the spectrum associated with this gene mutations to more severe phenotypes.

scholarly journals Generalized Epilepsy with Febrile Seizures Plus (GEFS+): Clinical Spectrum in Seven Italian Families Unrelated to SCN1A, SCN1B, and GABRG2 Gene Mutations

Epilepsia ◽  
2004 ◽  
Vol 45 (2) ◽  
pp. 149-158 ◽  
Author(s):  
Paolo Bonanni ◽  
Michela Malcarne ◽  
Francesca Moro ◽  
Pierangelo Veggiotti ◽  
Daniela Buti ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Febrile Seizures ◽  
Clinical Spectrum ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus

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 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

A Case of Neonatal Epileptic Encephalopathy due to SCN2A Mutation Responsive to a Ketogenic Diet

2018 ◽  
Vol 07 (04) ◽  
pp. 148-151 ◽  
Author(s):  
Fahad A. Bashiri ◽  
Abrar Hudairi ◽  
Malak Al Ghamdi ◽  
Adel A. Mahmoud
Keyword(s):  
Ketogenic Diet ◽  
Treatment Modality ◽  
Genetic Diagnosis ◽  
Febrile Seizures ◽  
Epileptic Encephalopathy ◽  
Intractable Seizures ◽  
Ohtahara Syndrome ◽  
Newborn Girl ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus

AbstractNeonatal seizures may have multiple causes including metabolic and genetic etiologies. If a genetic diagnosis is known, it can guide the physician to choose the most appropriate treatment modality. SCN2A mutation is a rare cause of epileptic encephalopathy in the neonatal age group. It has a wide phenotypic variation, ranging from benign familial epilepsy to a malignant form of epilepsy. This mutation has been associated with Ohtahara syndrome, migrating focal seizures of infancy, West syndrome, Lennox–Gastaut syndrome, and generalized epilepsy with febrile seizures plus. We present the case of a newborn girl who presented with multiple types of seizures, starting at the age of 3 days. Our initial investigations were not able to identify the etiology of her intractable seizures. Whole exome sequencing confirmed an SCN2A mutation. Various antiepileptic drugs (AEDs), including phenobarbitone, phenytoin, levetiracetam, topiramate, vigabatrin, carbamazepine, clonazepam, and mexiletine, were tried. However, none provided an optimal response. She ultimately showed a dramatic response to the ketogenic diet (KD). This report highlights the effectiveness of the KD as a treatment modality for SCN2A mutation-related epileptic encephalopathy, particularly when seizures are intractable and unresponsive to conventional AEDs.

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