De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis-Reference-Cited by-同舟云学术

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De novo and inherited SCN8A epilepsy mutations detected by gene panel analysis

Published:2017-01 Issue: Volume:129 Page:17-25
ISSN:0920-1211
Container-title:Epilepsy Research
language:en
Short-container-title:Epilepsy Research

Author:

Butler Kameryn M.,da Silva Cristina,Shafir Yuval,Weisfeld-Adams James D.,Alexander John J.,Hegde Madhuri,Escayg Andrew

Funder

Cynthia Freehauf in the collection of clinical data

Children’s Healthcare of Atlanta to A

Publisher

Elsevier BV

Subject

Clinical Neurology,Neurology

Reference48 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. Autosomal dominant SCN8A mutation with an unusually mild phenotype;Anand;Eur. J. Paediatr. Neurol.,2016

3. The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin;Barker;Epilepsia,2016

4. Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy;Berkovic;Ann. Neurol.,2004

5. De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy;Blanchard;J. Med. Genet.,2015

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1. Genotypic and phenotypic characteristics of sodium channel—associated epilepsy in Chinese population;Journal of Human Genetics;2024-06-17

2. SCN8A self‐limited infantile epilepsy: Does epilepsy resolve?;Epilepsia;2024-06-07

3. Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A‐related epilepsy and/or neurodevelopmental disorders;Epilepsia;2024-05-27

4. Expanding the genotype-phenotype spectrum in SCN8A-related disorders;BMC Neurology;2024-01-17

5. Clinical heterogeneity of epilepsy and mutation spectrum of voltage-gated sodium channel genes;2024-01-02

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