ArticleAmerican journal of human genetics2016
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
26 citing papers in PubMed, 47 citations in OpenAlex.
- Article
- Comparative Analysis of HMC3 and C20 Microglial Cell Lines Reveals Differential Myeloid Characteristics and Responses to Immune Stimuli.Immunology · 2025Review
- Imbalance inInternational journal of molecular sciences · 2024Article
- Widening the infantile hypotonia with psychomotor retardation and characteristic Facies-1 Syndrome's clinical and molecular spectrum through NALCNFrontiers in genetics · 2024Article
- Structure and mechanism of NALCN-FAM155A-UNC79-UNC80 channel complex.Nature communications · 2022Article
- Architecture of the human NALCN channelosome.Cell discovery · 2022Article
- Article
- Differential gene expression analysis following olfactory learning in honeybee (Apis mellifera L.).PloS one · 2022Article
- NaJournal of neural transmission (Vienna, Austria : 1996) · 2021Review
- Case Report: Complete Maternal Uniparental Disomy of Chromosome 2 With a NovelFrontiers in genetics · 2021Article
- Structure of the human sodium leak channel NALCN in complex with FAM155A.Nature communications · 2020Article
- Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.Nature communications · 2020Article
- Progesterone and estrogen regulate NALCN expression in human myometrial smooth muscle cells.American journal of physiology. Endocrinology and metabolism · 2020Article
- Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties.Scientific reports · 2019Article
- Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals.American journal of human genetics · 2019Article
- Periodic breathing in patients with NALCN mutations.Journal of human genetics · 2018Article
- Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).Human genetics · 2018Article
- Case Report of Pediatric Channelopathies WithJournal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2018Article
- Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).Metabolic brain disease · 2018Article
- Dopamine negatively modulates the NCA ion channels in C. elegans.PLoS genetics · 2017Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
Abstract
Brain channelopathies represent a growing class of brain disorders that usually result in paroxysmal disorders, although their role in other neurological phenotypes, including the recently described NALCN-related infantile encephalopathy, is increasingly recognized. In three Saudi Arabian families and one Egyptian family all affected by a remarkably similar phenotype (infantile encephalopathy and largely normal brain MRI) to that of NALCN-related infantile encephalopathy, we identified a locus on 2q34 in which whole-exome sequencing revealed three, including two apparently loss-of-function, recessive mutations in UNC80. UNC80 encodes a large protein that is necessary for the stability and function of NALCN and for bridging NALCN to UNC79 to form a functional complex. Our results expand the clinical relevance of the UNC79-UNC80-NALCN channel complex.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.