New Cav1.2 Channelopathy with High-functioning Autism, Affective Disorder, Severe Dental Enamel Defects, a Short QT Interval, and a Novel CACNA1C Loss-of-function Mutation

by Dominique Endres, Niels Decher, Isabell Röhr, Kirsty Sophia Vowinkel, Katharina Domschke, Katalin Komlosi, Andreas Tzschach, Birgitta Gläser, Miriam A. Schiele, Kimon Runge, Patrick Süß, Florian Schuchardt, Kathrin Alexandra Nickel, Birgit Stallmeyer, Susanne Rinné, Eric Schulze-Bahr, Ludger Tebartz van Elst · 2020