title: Voltage-gated Calcium Channels and Autism Spectrum Disorders.
abstract: Autism spectrum disorder is a complex-genetic disease and its etiology is unknown for the majority of cases. So far, more than one hundred different susceptibility genes were detected. Voltage-gated calcium channels are among the candidates linked to autism spectrum disorder by results of genetic studies. Mutations of nearly all pore-forming and some auxiliary subunits of voltage gated calcium channels have been revealed from investigations of autism spectrum disorder patients and populations. Though there are only few electrophysiological characterizations of voltage-gated calcium channel mutations found in autistic patients these studies suggest their functional relevance. In summary, both genetic and functional data suggest a potential role of voltage-gated calcium channels in autism spectrum disorder. Future studies require refinement of the clinical and systems biological concepts of autism spectrum disorder and an appropriate holistic approach at the molecular level, e.g. regarding all facets of calcium channel functions.
authors.forename: Alexandra F
authors.initials: AF
authors.lastname: Breitenkamp
authors.forename: Jan
authors.initials: J
authors.lastname: Matthes
authors.affiliation: Department of Pharmacology, University of Cologne, Cologne, Germany. stefan.herzig@uni-koeln.de.
authors.forename: Stefan
authors.initials: S
authors.lastname: Herzig
mesh_terms: D000818:Animals; D000067877:Autism Spectrum Disorder / Q000235:genetics* / Q000503:physiopathology; D015220:Calcium Channels / Q000235:genetics* / Q000502:physiology; D020022:Genetic Predisposition to Disease / Q000235:genetics; D055106:Genome-Wide Association Study; D006801:Humans; D015640:Ion Channel Gating / Q000235:genetics* / Q000502:physiology; D009154:Mutation; D020641:Polymorphism, Single Nucleotide; D020033:Protein Isoforms / Q000235:genetics / Q000502:physiology
chemical_list: D015220:Calcium Channels; D020033:Protein Isoforms