TY - JOUR AU - Hofer, Nadja T. AU - Tuluc, Petronel AU - Ortner, Nadine J. AU - Nikonishyna, Yuliia V. AU - Fernándes-Quintero, Monica L. AU - Liedl, Klaus R. AU - Flucher, Bernhard E. AU - Cox, Helen AU - Striessnig, Jörg PY - 2020 DA - 2020/01/08 TI - Biophysical classification of a CACNA1D de novo mutation as a high-risk mutation for a severe neurodevelopmental disorder JO - Molecular Autism SP - 4 VL - 11 IS - 1 AB - There is increasing evidence that de novo CACNA1D missense mutations inducing increased Cav1.3 L-type Ca2+-channel-function confer a high risk for neurodevelopmental disorders (autism spectrum disorder with and without neurological and endocrine symptoms). Electrophysiological studies demonstrating the presence or absence of typical gain-of-function gating changes could therefore serve as a tool to distinguish likely disease-causing from non-pathogenic de novo CACNA1D variants in affected individuals. We tested this hypothesis for mutation S652L, which has previously been reported in twins with a severe neurodevelopmental disorder in the Deciphering Developmental Disorder Study, but has not been classified as a novel disease mutation. SN - 2040-2392 UR - https://doi.org/10.1186/s13229-019-0310-4 DO - 10.1186/s13229-019-0310-4 ID - Hofer2020 ER -