Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
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The sodium leak channel, NALCN, in health and diseaseThe Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and OpportunitiesNalcn Is a "Leak" Sodium Channel That Regulates Excitability of Brainstem Chemosensory Neurons and Breathing.De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.DNA methylation patterns of protein-coding genes and long non-coding RNAs in males with schizophrenia.Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile EncephalopathyBiallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual DisabilityRecessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.Association Analysis of NALCN Polymorphisms rs1338041 and rs61973742 in a Chinese Population with Isolated Cervical DystoniaThe leak channel NALCN controls tonic firing and glycolytic sensitivity of substantia nigra pars reticulata neurons.NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutationsLessons learned from additional research analyses of unsolved clinical exome cases.De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN.KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability.Comment: Genotype-phenotype correlation with CRISPR-Cas9-: Bedside to bench.Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity.The NCA sodium leak channel is required for persistent motor circuit activity that sustains locomotion.Dopamine negatively modulates the NCA ion channels in C. elegans.The NCA-1 and NCA-2 Ion Channels Function Downstream of Gq and Rho To Regulate Locomotion in Caenorhabditis elegans.Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.Phenotypic evolution of UNC80 loss of function.Epigenetics and early domestication: differences in hypothalamic DNA methylation between red junglefowl divergently selected for high or low fear of humans.A Gain-of-Function Mutation inNALCNin a Child with Intellectual Disability, Ataxia, and Arthrogryposis
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Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
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article científic
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artigo científico
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scientific article published on 26 September 2013
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vetenskaplig artikel
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Mutations in NALCN cause an au ...... pairment, and cognitive delay.
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Mutations in NALCN cause an au ...... pairment, and cognitive delay.
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Mutations in NALCN cause an au ...... pairment, and cognitive delay.
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Mutations in NALCN cause an au ...... pairment, and cognitive delay.
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Mutations in NALCN cause an au ...... pairment, and cognitive delay.
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Mutations in NALCN cause an au ...... pairment, and cognitive delay.
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Mutations in NALCN cause an au ...... pairment, and cognitive delay.
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Albandary Albakheet
Hamad Al-Zaidan
Hana Hakami
Hindi Al-Hindi
Mazhor Al-Dosary
Moeenaldeen D Al-Sayed
Muhammad Ghaziuddin
Muhammed Al-Muheiza
Namik Kaya
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10.1016/J.AJHG.2013.08.001
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2013-09-26T00:00:00Z