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 ResearchConceptsCongenital 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
2020
Zebrafish as a Model System for the Study of Severe CaV2.1 (α1A) Channelopathies
Tyagi S, Ribera AB, Bannister RA. Zebrafish as a Model System for the Study of Severe CaV2.1 (α1A) Channelopathies. Frontiers In Molecular Neuroscience 2020, 12: 329. PMID: 32116539, PMCID: PMC7018710, DOI: 10.3389/fnmol.2019.00329.Peer-Reviewed Original ResearchFamilial hemiplegic migraine type 1Heterologous expressionSubunit of CaNeuromuscular junctionResultant phenotypeBehavioral defectsChannel functionMissense mutationsMechanistic understandingEpisodic ataxia type 2ZebrafishMutationsNeurotransmitter releaseModel systemCentral synapsesMore severe disordersQ-type CaChannelopathiesSubunitsPhenotypeNovoExpressionWide spectrumDevelopmental delayCa