Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

doi:10.1016/j.ajhg.2015.11.004

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Article

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.

American journal of human genetics - 7 Jan 2016

Stray-Pedersen Asbjørg, Cobben Jan-Maarten, Prescott Trine E, Lee Sora, Cang Chunlei, Aranda Kimberly, Ahmed Sohnee, Alders Marielle, Gerstner Thorsten, Aslaksen Kathinka, Tétreault Martine, Qin Wen, Hartley Taila, Jhangiani Shalini N, Muzny Donna M, Tarailo-Graovac Maja, van Karnebeek Clara D M, Lupski James R, Ren Dejian, Yoon Grace

Abstract excerpt

Ion channel proteins are required for both the establishment of resting membrane potentials and the generation of action potentials. Hundreds of mutations in genes encoding voltage-gated ion channels responsible for action potential generation have been found to cause severe neurological diseases. In contrast, the roles of voltage-independent "leak" channels, important for the establishment and maintenance of...

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Identifiers

PMID: 26708751
DOI: 10.1016/j.ajhg.2015.11.004
PMCID: PMC4716670

Genes

UNC80
NALCN

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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Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability.PMID 26708751Read ↗

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