Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
Splawski
Igor
I
Department of Cardiology, Children's Hospital, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA. igor@enders.tch.harvard.edu
Timothy
Katherine W
KW
Sharpe
Leah M
LM
Decher
Niels
N
Kumar
Pradeep
P
Bloise
Raffaella
R
Napolitano
Carlo
C
Schwartz
Peter J
PJ
Joseph
Robert M
RM
Condouris
Karen
K
Tager-Flusberg
Helen
H
Priori
Silvia G
SG
Sanguinetti
Michael C
MC
Keating
Mark T
MT
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
D020746:Calcium Channels, L-Type; C419385:L-type calcium channel alpha(1C); D002118:Calcium