Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy
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Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.The leak channel NALCN controls tonic firing and glycolytic sensitivity of substantia nigra pars reticulata neurons.Novel NALCN variant: altered respiratory and circadian rhythm, anesthetic sensitivity.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.Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.Phenotypic evolution of UNC80 loss of function.
P2860
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P2860
Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy
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Mutations in UNC80, Encoding P ...... evere Infantile Encephalopathy
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Mutations in UNC80, Encoding P ...... evere Infantile Encephalopathy
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Mutations in UNC80, Encoding P ...... evere Infantile Encephalopathy
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Mutations in UNC80, Encoding P ...... evere Infantile Encephalopathy
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Mutations in UNC80, Encoding P ...... evere Infantile Encephalopathy
@ast
Mutations in UNC80, Encoding P ...... evere Infantile Encephalopathy
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P2093
P2860
P50
P1476
Mutations in UNC80, Encoding P ...... evere Infantile Encephalopathy
@en
P2093
Ali Alasmari
Eissa Faqeih
Hanan E Shamseldin
P2860
P304
P356
10.1016/J.AJHG.2015.11.013
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P577
2015-12-16T00:00:00Z