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Article

High prevalence of genetic alterations in early-onset epileptic encephalopathies associated with infantile movement disorders.

Brain & development - 1 Mar 2016

Kobayashi Yu, Tohyama Jun, Kato Mitsuhiro, Akasaka Noriyuki, Magara Shinichi, Kawashima Hideshi, Ohashi Tsukasa, Shiraishi Hideaki, Nakashima Mitsuko, Saitsu Hirotomo, Matsumoto Naomichi

Abstract excerpt

OBJECTIVE: Recent studies have elucidated causative roles for genetic abnormalities in early-onset epileptic encephalopathies (EOEE). Accompanying characteristic features, in addition to seizures, have also been suggested to provide important clues for an early and accurate genetic diagnosis of affected patients. In this study, we investigated the underlying genetic causes in patients with EOEE associated with...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 26482601
DOI: 10.1016/j.braindev.2015.09.011

Genes

ALG13
CDKL5
GRIN1
SETD5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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