2022
Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder
Grosso B, Kramer A, Tyagi S, Bennett D, Tifft C, D’Souza P, Wangler M, Macnamara E, Meza U, Bannister R. Complex effects on CaV2.1 channel gating caused by a CACNA1A variant associated with a severe neurodevelopmental disorder. Scientific Reports 2022, 12: 9186. PMID: 35655070, PMCID: PMC9163077, DOI: 10.1038/s41598-022-12789-y.Peer-Reviewed Original ResearchMeSH KeywordsAtaxiaCalcium ChannelsCalcium Channels, N-TypeChannelopathiesHumansMuscle HypotoniaNeurodevelopmental DisordersConceptsCongenital ataxiaQ-type Ca2Function mutationsSevere neurodevelopmental disorderTsA-201 cellsCerebral edemaFocal seizuresCaV2.1 channelsCentral synapsesChannel dysfunctionNeurological disordersNeuromuscular junctionCACNA1A variantsNeurotransmitter releaseΑ1A subunitAction potential-like stimuliReversal potentialNeurodevelopmental disordersComplex functional effectsFunctional effectsDisordersAtaxiaMissense mutationsCa2Channel gating
2019
A mutation in CaV2.1 linked to a severe neurodevelopmental disorder impairs channel gating
Tyagi S, Bendrick TR, Filipova D, Papadopoulos S, Bannister RA. A mutation in CaV2.1 linked to a severe neurodevelopmental disorder impairs channel gating. The Journal Of General Physiology 2019, 151: 850-859. PMID: 31015257, PMCID: PMC6571999, DOI: 10.1085/jgp.201812237.Peer-Reviewed Original Research