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Article

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

American journal of human genetics - 2 Oct 2014

Abstract excerpt

Emerging evidence indicates that epileptic encephalopathies are genetically highly heterogeneous, underscoring the need for large cohorts of well-characterized individuals to further define the genetic landscape. Through a collaboration between two consortia (EuroEPINOMICS and Epi4K/EPGP), we analyzed exome-sequencing data of 356 trios with the "classical" epileptic encephalopathies, infantile spasms and Lennox...

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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: 25262651
DOI: 10.1016/j.ajhg.2014.08.013
PMCID: PMC4185114

Genes

DNM1
FASN
GABBR2
RYR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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