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Article

Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.

American journal of human genetics - 3 Oct 2013

Al-Sayed Moeenaldeen D, Al-Zaidan Hamad, Albakheet Albandary, Hakami Hana, Kenana Rosan, Al-Yafee Yusra, Al-Dosary Mazhor, Qari Alya, Al-Sheddi Tarfa, Al-Muheiza Muhammed, Al-Qubbaj Wafa, Lakmache Yamina, Al-Hindi Hindi, Ghaziuddin Muhammad, Colak Dilek, Kaya Namik

Abstract excerpt

Sodium leak channel, nonselective (NALCN) is a voltage-independent and cation-nonselective channel that is mainly responsible for the leaky sodium transport across neuronal membranes and controls neuronal excitability. Although NALCN variants have been conflictingly reported to be in linkage disequilibrium with schizophrenia and bipolar disorder, to our knowledge, no mutations have been reported to date for any...

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Identifiers

PMID: 24075186
DOI: 10.1016/j.ajhg.2013.08.001
PMCID: PMC3791267

Genes

NALCN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.PMID 24075186Read ↗

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A homozygous truncating NALCN variant in two Afro-Caribbean siblings with hypotonia and dolichocephaly.Semantic proximity Read ↗

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

Framework for combined functional and computational assessment of variant pathogenicity in the sodium leak channel NALCNSemantic proximity Read ↗

Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).Semantic proximity Read ↗

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome.Semantic proximity Read ↗

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

NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea.Semantic proximity Read ↗

<i>De novo</i>variants of<i>NALCN</i>differentially impact both the phenotypic spectrum of patients and the biophysical properties of the NALCN currentSemantic proximity Read ↗

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental DelaySemantic proximity Read ↗

Whole Exome Sequencing and Heterologous Cellular Electrophysiology Studies Elucidate a Novel Loss-of-Function Mutation in the CACNA1A-Encoded Neuronal P/Q-Type Calcium Channel in a Child With Congenital Hypotonia and Developmental DelaySemantic proximity Read ↗

Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).Semantic proximity Read ↗

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