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Article

A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation.

Brain & development - 1 Jan 2018

Kojima Karin, Shirai Kentaro, Kobayashi Mizuki, Miyauchi Akihiko, Saitsu Hirotomo, Matsumoto Naomichi, Osaka Hitoshi, Yamagata Takanori

Abstract excerpt

BACKGROUND: The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patient with early myoclonic encephalopathy (EME) caused by a KCNQ2 mutation. CASE REPORT: A male...

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

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Source

Identifiers

PMID: 28687180
DOI: 10.1016/j.braindev.2017.06.004

Genes

KCNQ2

Variants

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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