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Page 1
A new neurodevelopmental disorder linked to heterozygous variants in UNC79.
Bayat A, Liu Z, Luo S, Fenger CD, Højte AF, Isidor B, Cogne B, Larson A, Zanus C, Faletra F, Keren B, Musante L, Gourfinkel-An I, Perrine C, Demily C, Lesca G, Liao W, Ren D. Bayat A, et al. Genet Med. 2023 Sep;25(9):100894. doi: 10.1016/j.gim.2023.100894. Epub 2023 May 11. Genet Med. 2023. PMID: 37183800 Free article.
PURPOSE: The "NALCN channelosome" is an ion channel complex that consists of multiple proteins, including NALCN, UNC79, UNC80, and FAM155A. Only a small number of individuals with a neurodevelopmental syndrome have been reported with disease cau …
PURPOSE: The "NALCN channelosome" is an ion channel complex that consists of multiple proteins, including NALCN, …
Genotype-Phenotype Landscape of NALCN and UNC80-Related Disorders.
Parra-Díaz P, Monteil A, Calame D, Hadouiri N, Soliani L, Spinelli E, Caron EJ, Dieterich K, Kritzer A, Riley K, Serratosa Fernández JM, Tanner JA, Tevissen H, Thauvin C, Vera-Medialdea R, Waltz SM, Beltrán-Corbellini Á, García Morales I, Sánchez-Miranda Román I, Toledano R, Valls-Carbó A, Gil-Nagel A. Parra-Díaz P, et al. Neurology. 2025 Apr 8;104(7):e213429. doi: 10.1212/WNL.0000000000213429. Epub 2025 Mar 6. Neurology. 2025. PMID: 40048676
Genetic variants in NALCN and UNC80, a subunit of the NALCN channelosome, cause ultra-rare and severe neurodevelopmental disorders. ...Patients with CLIFAHDD and premature death, epilepsy, or paroxysmal dystonia carried variants within NALCN pore domai …
Genetic variants in NALCN and UNC80, a subunit of the NALCN channelosome, cause ultra-rare and severe neurodevelopmenta …
NALCN/Cch1 channelosome subunits originated in early eukaryotes.
Senatore A, Mayorova TD, Yañez-Guerra LA, Elkhatib W, Bejoy B, Lory P, Monteil A. Senatore A, et al. J Gen Physiol. 2025 Nov 3;157(6):e202413636. doi: 10.1085/jgp.202413636. Epub 2025 Sep 5. J Gen Physiol. 2025. PMID: 40910942 Free PMC article.
The sodium leak channel NALCN, a key regulator of neuronal excitability, associates with three ancillary subunits that are critical for its function: a subunit called FAM155, which interacts with the extracellular regions of the channel, and two cytoplasmic s …
The sodium leak channel NALCN, a key regulator of neuronal excitability, associates with three ancillary subunits that are cri …
Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.
Wie J, Bharthur A, Wolfgang M, Narayanan V, Ramsey K; C4RCD Research Group; Aranda K, Zhang Q, Zhou Y, Ren D. Wie J, et al. Nat Commun. 2020 Jul 3;11(1):3351. doi: 10.1038/s41467-020-17105-8. Nat Commun. 2020. PMID: 32620897 Free PMC article.
The sodium-leak channel NALCN forms a subthreshold sodium conductance that controls the resting membrane potentials of neurons. The auxiliary subunits of the channel and their functions in mammals are largely unknown. In this study, we demonstrate that two la …
The sodium-leak channel NALCN forms a subthreshold sodium conductance that controls the resting membrane potentials of neurons …
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Bramswig NC, Bertoli-Avella AM, Albrecht B, Al Aqeel AI, Alhashem A, Al-Sannaa N, Bah M, Bröhl K, Depienne C, Dorison N, Doummar D, Ehmke N, Elbendary HM, Gorokhova S, Héron D, Horn D, James K, Keren B, Kuechler A, Ismail S, Issa MY, Marey I, Mayer M, McEvoy-Venneri J, Megarbane A, Mignot C, Mohamed S, Nava C, Philip N, Ravix C, Rolfs A, Sadek AA, Segebrecht L, Stanley V, Trautman C, Valence S, Villard L, Wieland T, Engels H, Strom TM, Zaki MS, Gleeson JG, Lüdecke HJ, Bauer P, Wieczorek D. Bramswig NC, et al. Hum Genet. 2018 Sep;137(9):753-768. doi: 10.1007/s00439-018-1929-5. Epub 2018 Aug 23. Hum Genet. 2018. PMID: 30167850 Free PMC article.
NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is part of a large ion channel complex, the "NALCN channelosome", consisting of multiple prote …
NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential a …
Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes.
He Y, Ji X, Yan H, Ye X, Liu Y, Wei W, Xiao B, Sun Y. He Y, et al. Gene. 2018 Jun 20;660:13-17. doi: 10.1016/j.gene.2018.03.063. Epub 2018 Mar 20. Gene. 2018. PMID: 29572195
We report two unrelated Chinese patients with compound heterozygous UNC80 mutations inherited from their parents, as identified by whole-exome sequencing (WES). ...Furthermore, we herein summarize the genotypes and phenotypes of patients with UNC80 mutations reporte …
We report two unrelated Chinese patients with compound heterozygous UNC80 mutations inherited from their parents, as identified by wh …
Phenotypic evolution of UNC80 loss of function.
Valkanas E, Schaffer K, Dunham C, Maduro V, du Souich C, Rupps R, Adams DR, Baradaran-Heravi A, Flynn E, Malicdan MC, Gahl WA, Toro C, Boerkoel CF. Valkanas E, et al. Am J Med Genet A. 2016 Dec;170(12):3106-3114. doi: 10.1002/ajmg.a.37929. Epub 2016 Aug 11. Am J Med Genet A. 2016. PMID: 27513830 Free PMC article.
No UNC80 mRNA was detectable in patient cultured skin fibroblasts, suggesting UNC80 loss of function by nonsense mediated mRNA decay. Further supporting the UNC80 mutations as causative of these siblings' disorder, biallelic mutations in UNC80 have rec …
No UNC80 mRNA was detectable in patient cultured skin fibroblasts, suggesting UNC80 loss of function by nonsense mediated mRNA …
Novel nonsense mutation in UNC80 in a Turkish patient further validates the sociable skill and severe gastrointestinal problems as part of disease spectrum.
Kelesoglu FM, Kaya M, Sayili ET. Kelesoglu FM, et al. Am J Med Genet A. 2023 Jul;191(7):1959-1962. doi: 10.1002/ajmg.a.63213. Epub 2023 Apr 17. Am J Med Genet A. 2023. PMID: 37067163
NALCN channelosome complex contributes to maintaining resting membrane potential. The complex has four domains including two intracellular domains (UNC79 and UNC80), one transmembrane domain (NALCN) and one extracellular domain (FAM155A). ...Trio exome sequen …
NALCN channelosome complex contributes to maintaining resting membrane potential. The complex has four domains including two intracel …
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).
Obeid T, Hamzeh AR, Saif F, Nair P, Mohamed M, Al-Ali MT, Bastaki F. Obeid T, et al. Metab Brain Dis. 2018 Jun;33(3):869-873. doi: 10.1007/s11011-018-0200-z. Epub 2018 Feb 11. Metab Brain Dis. 2018. PMID: 29430593
The UNC80 gene encodes for a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. ...Numerous elements in the patient's phenotype were in agreement with the few reported cases of UNC80 mu …
The UNC80 gene encodes for a large component of the NALCN sodium-leak channel complex that regulates the basal excitabi …
Targeted panel sequencing of pharmacogenes and oncodrivers in colorectal cancer patients reveals genes with prognostic significance.
Heczko L, Liška V, Vyčítal O, Fiala O, Šůsová S, Hlaváč V, Souček P. Heczko L, et al. Hum Genomics. 2024 Jul 19;18(1):83. doi: 10.1186/s40246-024-00644-2. Hum Genomics. 2024. PMID: 39030589 Free PMC article.
Carriage of somatic mutations in any of the genes ABCA13, ANK2, COL7A1, NAV3, or UNC80 had prognostic relevance for worse overall survival (OS) of all patients. In contrast, mutations in FLG, GLI3, or UNC80 were prognostic in the same direction for patients untreate …
Carriage of somatic mutations in any of the genes ABCA13, ANK2, COL7A1, NAV3, or UNC80 had prognostic relevance for worse overall sur …
19 results