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Article

De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.

Journal of human genetics - 1 May 2016

Fukai Ryoko, Saitsu Hirotomo, Tsurusaki Yoshinori, Sakai Yasunari, Haginoya Kazuhiro, Takahashi Kazumasa, Hubshman Monika Weisz, Okamoto Nobuhiko, Nakashima Mitsuko, Tanaka Fumiaki, Miyake Noriko, Matsumoto Naomichi

Abstract excerpt

The voltage-gated Kv10.1 potassium channel, also known as ether-a-go-go-related gene 1, encoded by KCNH1 (potassium voltage-gated channel, subfamily H (eag related), member 1) is predominantly expressed in the central nervous system. Recently, de novo missense KCNH1 mutations have been identified in six patients with Zimmermann-Laband syndrome and in four patients with Temple-Baraitser syndrome. These syndromes...

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Source

Identifiers

PMID: 26818738
DOI: 10.1038/jhg.2016.1

Genes

KCNH1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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