Article
The S218L familial hemiplegic migraine mutation promotes deinhibition of Ca(v)2.1 calcium channels during direct G-protein regulation.
Pflugers Archiv : European journal of physiology - 1 Nov 2008
Weiss Norbert, Sandoval Alejandro, Felix Ricardo, Van den Maagdenberg Arn, De Waard Michel
Abstract excerpt
Familial hemiplegic migraine type 1 (FHM-1) is caused by mutations in CACNA1A, the gene encoding for the Ca(v)2.1 subunit of voltage-gated calcium channels. Although various studies attempted to determine biophysical consequences of these mutations on channel activity, it remains unclear exactly how mutations can produce a FHM-1 phenotype. A lower activation threshold of mutated channels resulting in increased...
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