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Article

De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.

Journal of human genetics - 1 May 2016

Fukai Ryoko, Saitsu Hirotomo, Okamoto Nobuhiko, Sakai Yasunari, Fattal-Valevski Aviva, Masaaki Shiina, Kitai Yukihiro, Torio Michiko, Kojima-Ishii Kanako, Ihara Kenji, Chernuha Veronika, Nakashima Mitsuko, Miyatake Satoko, Tanaka Fumiaki, Miyake Noriko, Matsumoto Naomichi

Abstract excerpt

Three recessive mutations in the sodium leak channel, nonselective (NALCN) have been reported to cause intellectual disability and hypotonia. In addition, 14 de novo heterozygous mutations have been identified in 15 patients with arthrogryposis and neurodevelopmental impairment. Here, we report three patients with neurodevelopmental disease and hypotonia, harboring one recurrent (p.R1181Q) and two novel mutations...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Muscle Hypotonia

Share to Mutation, Missense

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Source

Identifiers

PMID: 26763878
DOI: 10.1038/jhg.2015.163

Genes

NALCN

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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De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.PMID 26763878Read ↗

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