Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.

Neurology - 13 Sept 2016

Bend Eric G, Si Yue, Stevenson David A, Bayrak-Toydemir Pinar, Newcomb Tara M, Jorgensen Erik M, Swoboda Kathryn J

Abstract excerpt

OBJECTIVE: To perform genotype-phenotype analysis in an infant with congenital arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore the mechanism of pathogenicity using a Caenorhabditis elegans model. METHODS: We performed whole-exome sequencing in a preterm neonate with congenital arthrogryposis and a severe life-threatening clinical course. We examined the mechanism of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple
Share to Animals, Genetically Modified

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Caenorhabditis elegans

Share to Caenorhabditis elegans Proteins

Share to Channelopathies

Share to Ion Channels

Share to Models, Animal

Share to Sodium Channels

Source

Open in PubMed Open full text

Identifiers

PMID: 27558372
DOI: 10.1212/WNL.0000000000003095
PMCID: PMC5027803

Genes

NALCN

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations.PMID 27558372Read ↗

A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.Semantic proximity Read ↗

A Gain-of-Function Mutation in NALCN in a Child with Intellectual Disability, Ataxia, and Arthrogryposis.Semantic 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 ↗

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

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain-expressed sodium channelopathies.Semantic proximity Read ↗

Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.Semantic proximity Read ↗

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

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

Genotype-Phenotype Landscape of NALCN and UNC80 -Related DisordersSemantic proximity Read ↗

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

A Novel Missense Mutation in NALCN cause CLIFAHDD Syndrome and Prenatal Diagnosis in ChinaSemantic proximity Read ↗

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

⌁Select a neighboring publication to make it the new centre.