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Article

Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.

American journal of medical genetics. Part A - 1 Feb 2018

Takenouchi Toshiki, Inaba Mie, Uehara Tomoko, Takahashi Takao, Kosaki Kenjiro, Mizuno Seiji

Abstract excerpt

Loss-of function mutations in NALCN on chromosome 13q, a sodium leak channel that maintains baseline neuronal excitability, cause infantile hypotonia with psychomotor retardation and characteristic faces 1 (IHPRF1, OMIM #615419). Here, we document two individuals with early onset hypotonia with poor feeding and intellectual disability who were compatible with a diagnosis of IHPRF1. The two patients had bi-allelic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29168298
DOI: 10.1002/ajmg.a.38543

Genes

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 NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.PMID 29168298Read ↗

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