Characterization of the functional and clinical impacts of <i>CACNA1A</i> missense variants found in neurodevelopmental disorders
Year: 2025
Type: article
Language: en
Topic: Ion channel regulation and function
Authors and affiliations:
raw_author_name: Erkin Kurganov
raw_affiliation_strings: Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA
raw_author_name: Lei Cui
raw_affiliation_strings: Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA
raw_author_name: Nikita Budnik
raw_affiliation_strings: Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA
raw_author_name: Siwei Chen
raw_affiliation_strings: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA
raw_author_name: Erick Olivares
raw_affiliation_strings: Department of Neuroscience, University of Texas at San Antonio, San Antonio, TX 78249, USA
raw_author_name: David Baez-Nieto
raw_affiliation_strings: Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA
raw_author_name: Ahmet S. Asan
raw_affiliation_strings: Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA
raw_author_name: Laina Lusk
raw_affiliation_strings: Epilepsy NeuroGenetics Initiative (ENGIN), Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA
raw_author_name: Lacey Smith
raw_affiliation_strings: Harvard Medical School, Boston Children Hospital, Boston, MA 02115, USA
raw_author_name: Sooyeon Jo
raw_affiliation_strings: Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA
raw_author_name: Diogo Marques
raw_affiliation_strings: Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA
raw_author_name: Ralda Nehme
raw_affiliation_strings: Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA
raw_author_name: Sureni V. Mullegama
raw_affiliation_strings: GeneDX LLC, 207 Perry Parkway, Gaithersburg, MD 20877, USA
raw_author_name: Amanda Lindy
raw_affiliation_strings: GeneDX LLC, 207 Perry Parkway, Gaithersburg, MD 20877, USA
raw_author_name: Alfred L. George
raw_affiliation_strings: Department of Pharmacology, Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA
raw_author_name: Annapurna Poduri
raw_affiliation_strings: Harvard Medical School, Boston Children Hospital, Boston, MA 02115, USA
raw_author_name: Ingo Helbig
raw_affiliation_strings: Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA
Epilepsy NeuroGenetics Initiative (ENGIN), Children’s Hospital of Philadelphia, Philadelphia, PA 19104, USA
Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA
raw_author_name: Mark Daly
raw_affiliation_strings: Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114 USA
Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA
raw_author_name: Jen Q. Pan
raw_affiliation_strings: Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, 75 Ames Street, Cambridge, MA 02142, USA