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Recurrent stroke due to a novel voltage sensor mutation in Ca(v)2.1 responds to verapamil

Item Type:Article
Title:Recurrent stroke due to a novel voltage sensor mutation in Ca(v)2.1 responds to verapamil
Creators Name:Knierim, E. and Leisle, L. and Wagner, C. and Weschke, B. and Lucke, B. and Bohner, G. and Dreier, J.P. and Schuelke, M.
Abstract:BACKGROUND AND PURPOSE: Familial hemiplegic migraine is characterized by recurrent migraine, hemiparesis, and ataxia. Causes may be mutations in calcium and sodium channels or in a subunit of the Na/K-ATPse. Migraine treatment with calcium channel blockers was only successful in some patients. Summary of Case- We describe a 6-year-old girl with recurrent ischemic strokes after minor head trauma associated with seizures, hemiparesis, fever, and altered consciousness. Genetic analysis revealed a spontaneous, novel dominant CACNA1A mutation (c.4046G->A, p.R1349Q) that removed a highly conserved arginine of the voltage sensing region of the P/Q-type Ca(v)2.1 channel. Because a homologous mutation in the tottering-5J mouse increased open probability of the channel as well as calcium influx, we treated the patient with the calcium channel blocker verapamil during characteristic prodromi after head trauma. Treatment was instantly effective and prevented a new stroke. CONCLUSIONS: CACNA1A mutations should be considered in the diagnostic workup of childhood stroke, especially if associated with ataxia and migraine.
Keywords:Calcium Channels, Genetics, Pediatric Neurology, Pediatric Stroke, Stroke in Children
Source:Stroke
ISSN:0039-2499
Publisher:American Heart Association (U.S.A.)
Volume:42
Number:2
Page Range:e14-e17
Date:February 2011
Official Publication:https://doi.org/10.1161/STROKEAHA.110.600023
PubMed:View item in PubMed

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