Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy-Reference-Cited by-同舟云学术

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Complex SCN8A DNA-abnormalities in an individual with therapy resistant absence epilepsy

Published:2015-09 Issue: Volume:115 Page:141-144
ISSN:0920-1211
Container-title:Epilepsy Research
language:en
Short-container-title:Epilepsy Research

Author:

Berghuis Bianca,de Kovel Carolien G.F.,van Iterson Loretta,Lamberts Robert J.,Sander Josemir W.,Lindhout Dick,Koeleman Bobby P.C.

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference16 articles.

1. Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy;de Kovel;Epilepsy Res.,2014

2. X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment;Dibbens;Nat. Genet.,2008

3. A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy;Estacion;Neurobiol. Dis.,2014

4. Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy;Klassen;Cell,2011

5. The phenotypic spectrum of SCN8A encephalopathy;Larsen;Neurology,2015

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1. Atypical absence seizures and gene variants: A gene-based review of etiology, electro-clinical features, and associated epilepsy syndrome;Epilepsy & Behavior;2024-02

2. Prefrontal PV interneurons facilitate attention and are linked to attentional dysfunction in a mouse model of absence epilepsy;eLife;2023-04-04

3. Effect of fenfluramine on seizures and comorbidities in SCN8A ‐developmental and epileptic encephalopathy: A case series;Epilepsia Open;2022-07-20

4. Commonalities and distinctions between two neurodevelopmental disorder subtypes associated with SCN2A and SCN8A variants and literature review;Molecular Genetics & Genomic Medicine;2022-03-29

5. Prefrontal PV interneurons facilitate attention and are linked to attentional dysfunction in a mouse model of absence epilepsy;2022-03-18

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