Recurrent Stroke Due to a Novel Voltage Sensor Mutation in Ca v 2.1 Responds to Verapamil | Zendy

Ellen Knierim | Zendy; Lilia Leisle | Zendy; C. N. J. Wagner | Zendy; Bernhard Weschke | Zendy; Barbara Lucke | Zendy; Georg Böhner | Zendy; Jens P. Dreier | Zendy; Markus Schuelke | Zendy

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Recurrent Stroke Due to a Novel Voltage Sensor Mutation in Ca _v 2.1 Responds to Verapamil

Author(s) -

Ellen Knierim,

Lilia Leisle,

C. N. J. Wagner,

Bernhard Weschke,

Barbara Lucke,

Georg Böhner,

Jens P. Dreier,

Markus Schuelke

Publication year - 2010

Publication title -

stroke

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.397

H-Index - 319

eISSN - 1524-4628

pISSN - 0039-2499

DOI - 10.1161/strokeaha.110.600023

Subject(s) - medicine , verapamil , migraine , ataxia , epilepsy , migraine with aura , familial hemiplegic migraine , calcium channel , mutation , stroke (engine) , hemiparesis , sodium channel , childhood absence epilepsy , calcium channel blocker , anesthesia , calcium , aura , genetics , sodium , gene , psychiatry , mechanical engineering , chemistry , organic chemistry , biology , angiography , engineering

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.

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