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Article

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

American journal of human genetics - 4 Aug 2016

Abstract excerpt

Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset epilepsies. Next-generation sequencing has highlighted the crucial contribution of de novo mutations to the genetic architecture of EEs as well as to their underlying genetic heterogeneity. Our previous whole-exome sequencing study of 264 parent-child trios revealed more than 290 candidate genes in which only a single...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27476654
DOI: 10.1016/j.ajhg.2016.06.003
PMCID: PMC4974067

Genes

ALG13
DNM1
GABRB3
GNAO1
IQSEC2

Provenance

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