Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.

doi:10.1016/j.ajhg.2017.05.016

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Article

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.

American journal of human genetics - 6 Jul 2017

Lehman Anna, Thouta Samrat, Mancini Grazia M S, Naidu Sakkubai, van Slegtenhorst Marjon, McWalter Kirsty, Person Richard, Mwenifumbo Jill, Salvarinova Ramona, Guella Ilaria, McKenzie Marna B, Datta Anita, Connolly Mary B, Kalkhoran Somayeh Mojard, Poburko Damon, Friedman Jan M, Farrer Matthew J, Demos Michelle, Desai Sonal, Claydon Thomas

Abstract excerpt

KCNQ5 is a highly conserved gene encoding an important channel for neuronal function; it is widely expressed in the brain and generates M-type current. Exome sequencing identified de novo heterozygous missense mutations in four probands with intellectual disability, abnormal neurological findings, and treatment-resistant epilepsy (in two of four). Comprehensive analysis of this potassium channel for the four...

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Identifiers

PMID: 28669405
DOI: 10.1016/j.ajhg.2017.05.016
PMCID: PMC5501867

Genes

KCNQ5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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