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
2010
Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy
Kolb LE, Arlier Z, Yalcinkaya C, Ozturk AK, Moliterno JA, Erturk O, Bayrakli F, Korkmaz B, DiLuna ML, Yasuno K, Bilguvar K, Ozcelik T, Tuysuz B, State MW, Gunel M. Novel VLDLR microdeletion identified in two Turkish siblings with pachygyria and pontocerebellar atrophy. Neurogenetics 2010, 11: 319-325. PMID: 20082205, DOI: 10.1007/s10048-009-0232-y.Peer-Reviewed Original ResearchConceptsCerebellar hypoplasiaMajority of patientsLow-density lipoprotein receptorConstellation of findingsNon-progressive cerebellar ataxiaDensity lipoprotein receptorAutosomal recessive patternHomozygous deletionNeurological sequelaePontocerebellar atrophyDisequilibrium syndromeTurkish familyCerebellar atrophyNovel homozygous deletionLipoprotein receptorCerebellar ataxiaHypoplasiaMotor developmentMotor disabilityTurkish siblingsRecessive patternVLDLR geneCongenital ataxiaHeterogeneous groupSingle nucleotide polymorphisms
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