title: Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
authors.affiliation: Department of Cardiology, Children's Hospital, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA. igor@enders.tch.harvard.edu
authors.forename: Igor
authors.initials: I
authors.lastname: Splawski
authors.forename: Katherine W
authors.initials: KW
authors.lastname: Timothy
authors.forename: Leah M
authors.initials: LM
authors.lastname: Sharpe
authors.forename: Niels
authors.initials: N
authors.lastname: Decher
authors.forename: Pradeep
authors.initials: P
authors.lastname: Kumar
authors.forename: Raffaella
authors.initials: R
authors.lastname: Bloise
authors.forename: Carlo
authors.initials: C
authors.lastname: Napolitano
authors.forename: Peter J
authors.initials: PJ
authors.lastname: Schwartz
authors.forename: Robert M
authors.initials: RM
authors.lastname: Joseph
authors.forename: Karen
authors.initials: K
authors.lastname: Condouris
authors.forename: Helen
authors.initials: H
authors.lastname: Tager-Flusberg
authors.forename: Silvia G
authors.initials: SG
authors.lastname: Priori
authors.forename: Michael C
authors.initials: MC
authors.lastname: Sanguinetti
authors.forename: Mark T
authors.initials: MT
authors.lastname: Keating
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000503:physiopathology; D000200:Action Potentials / Q000235:genetics; D000818:Animals; D001145:Arrhythmias, Cardiac / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D001321:Autistic Disorder / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D001921:Brain / Q000378:metabolism / Q000503:physiopathology; D001923:Brain Chemistry / Q000235:genetics; D016466:CHO Cells; D002118:Calcium / Q000378:metabolism; D020746:Calcium Channels, L-Type / Q000235:genetics* / Q000378:metabolism; D020013:Calcium Signaling / Q000235:genetics*; D002462:Cell Membrane / Q000235:genetics / Q000378:metabolism; D002648:Child; D006224:Cricetinae; D005260:Female; D030342:Genetic Diseases, Inborn / Q000150:complications / Q000235:genetics / Q000503:physiopathology*; D006321:Heart / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D017880:Limb Deformities, Congenital / Q000150:complications / Q000235:genetics; D008297:Male; D051379:Mice; D020125:Mutation, Missense / Q000235:genetics*; D032383:Myocytes, Cardiac / Q000378:metabolism; D009474:Neurons / Q000378:metabolism; D009865:Oocytes; D010375:Pedigree; D013577:Syndrome; D014982:Xenopus laevis
chemical_list: D020746:Calcium Channels, L-Type; C419385:L-type calcium channel alpha(1C); D002118:Calcium