Universität zu Köln

Breitenkamp, Alexandra F., Matthes, Jan ORCID: 0000-0003-2754-1555 and Herzig, Stefan (2015). Voltage-gated Calcium Channels and Autism Spectrum Disorders. Curr. Molec. Pharmacol., 8 (2). S. 123 - 133. SHARJAH: BENTHAM SCIENCE PUBL LTD. ISSN 1874-4702

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Breitenkamp, Alexandra F. UNSPECIFIED UNSPECIFIED UNSPECIFIED Matthes, Jan UNSPECIFIED orcid.org/0000-0003-2754-1555 UNSPECIFIED Herzig, Stefan UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-418691
DOI:	10.2174/1874467208666150507105235
Journal or Publication Title:	Curr. Molec. Pharmacol.
Volume:	8
Number:	2
Page Range:	S. 123 - 133
Date:	2015
Publisher:	BENTHAM SCIENCE PUBL LTD
Place of Publication:	SHARJAH
ISSN:	1874-4702
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language TIMOTHY-SYNDROME; BETA-SUBUNIT; MUTATIONS; MICE; ACTIVATION; DELETION; REPLICATION; ARRHYTHMIA; MECHANISM; GENETICS Multiple languages Biochemistry & Molecular Biology; Pharmacology & Pharmacy Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/41869