Title: CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.

Authors: Yousra El Ghaleb, Pauline E Schneeberger, Monica L Fernández-Quintero, Stefanie M Geisler, Simone Pelizzari, Abeltje M Polstra, Johanna M van Hagen, Jonas Denecke, Marta Campiglio, Klaus R Liedl, Cathy A Stevens, Richard E Person, Stefan Rentas, Eric D Marsh, Laura K Conlin, Petronel Tuluc, Kerstin Kutsche, Bernhard E Flucher

Journal, date & volume: Brain, 2021Aug17, 144, 2092-2106

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/33704440

Abstract