Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay

2013/09/26 by Moeenaldeen AlSayed, Moeenaldeen D. Al-Sayed, Hamad Al-Zaidan +21 · 26 citations
Biochemistry, Genetics and Molecular Biology · Neuroscience · #Ion channel regulation and function #Ion Channels and Receptors #Ion Transport and Channel Regulation

paper · doi:10.1016/j.ajhg.2013.08.001

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• Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum
• The sodium leak channel, NALCN, in health and disease. [europepmc]
• The leak channel NALCN controls tonic firing and glycolytic sensitivity of substantia nigra pars reticulata neurons. [europepmc]
• Nalcn Is a "Leak" Sodium Channel That Regulates Excitability of Brainstem Chemosensory Neurons and Breathing. [europepmc]
• Phenotypic evolution of UNC80 loss of function. [europepmc]
• KCNA4 deficiency leads to a syndrome of abnormal striatum, congenital cataract and intellectual disability. [europepmc]
• Lessons learned from additional research analyses of unsolved clinical exome cases. [europepmc]
• Dopamine negatively modulates the NCA ion channels in C. elegans. [europepmc]
• Epigenetics and early domestication: differences in hypothalamic DNA methylation between red junglefowl divergently selected for high or low fear of humans. [europepmc]
• Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). [europepmc]
• Quantifying the contribution of recessive coding variation to developmental disorders. [europepmc]
• Ion Channel Contributions to Wing Development in Drosophila melanogaster . [europepmc]
• Functional expression of CLIFAHDD and IHPRF pathogenic variants of the NALCN channel in neuronal cells reveals both gain- and loss-of-function properties. [europepmc]
• Genome wide analysis reveals heparan sulfate epimerase modulates TDP-43 proteinopathy. [europepmc]
• The NALCN channel complex is voltage sensitive and directly modulated by extracellular calcium. [europepmc]
• Ion Channel Contributions to Morphological Development: Insights From the Role of Kir2.1 in Bone Development. [europepmc]
• Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex. [europepmc]
• Structure of the human sodium leak channel NALCN in complex with FAM155A. [europepmc]
• Structure of voltage-modulated sodium-selective NALCN-FAM155A channel complex. [europepmc]
• Enhanced excitability of cortical neurons in low-divalent solutions is primarily mediated by altered voltage-dependence of voltage-gated sodium channels. [europepmc]
• SLC25A42-associated mitochondrial encephalomyopathy: Report of additional founder cases and functional characterization of a novel deletion. [europepmc]
• Caenorhabditis elegans for rare disease modeling and drug discovery: strategies and strengths. [europepmc]
• Architecture of the human NALCN channelosome. [europepmc]
• Structure and mechanism of NALCN-FAM155A-UNC79-UNC80 channel complex. [europepmc]
• Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum. [europepmc]
• Phenotypic screening models for rapid diagnosis of genetic variants and discovery of personalized therapeutics. [europepmc]