Article
Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2021
Rodan Lance H, Spillmann Rebecca C, Kurata Harley T, Lamothe Shawn M, Maghera Jasmine, Jamra Rami Abou, Alkelai Anna, Antonarakis Stylianos E, Atallah Isis, Bar-Yosef Omer, Bilan Frédéric, Bjorgo Kathrine, Blanc Xavier, Van Bogaert Patrick, Bolkier Yoav, Burrage Lindsay C, Christ Björn U, Granadillo Jorge L, Dickson Patricia, Donald Kirsten A, Dubourg Christèle, Eliyahu Aviva, Emrick Lisa, Engleman Kendra, Gonfiantini Michaela Veronika, Good Jean-Marc, Kalser Judith, Kloeckner Chiara, Lachmeijer Guus, Macchiaiolo Marina, Nicita Francesco, Odent Sylvie, O'Heir Emily, Ortiz-Gonzalez Xilma, Pacio-Miguez Marta, Palomares-Bralo María, Pena Loren, Platzer Konrad, Quinodoz Mathieu, Ranza Emmanuelle, Rosenfeld Jill A, Roulet-Perez Eliane, Santani Avni, Santos-Simarro Fernando, Pode-Shakked Ben, Skraban Cara, Slaugh Rachel, Superti-Furga Andrea, Thiffault Isabelle, van Jaabrsveld Richard H, Vincent Marie, Wang Hong-Gang, Zacher Pia, Rush Eric, Pitt Geoffrey S, Au Ping Yee Billie, Shashi Vandana
Abstract excerpt
PURPOSE: CACNA1C encodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1C have previously been reported in association with Timothy syndrome and long QT syndrome. Several case reports have suggested that CACNA1C variation may also be associated with a primarily neurological phenotype. METHODS: We describe 25 individuals from 22...
Read the complete abstract on PubMed