PubMed 18313928
Referenced in: none
Automatically associated channels: Cav2.1
Title: Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation.
Authors: Yee-Cheun Chan, Jean-Marc Burgunder, Einar Wilder-Smith, Soh-Eng Chew, Karen M J Lam-Mok-Sing, Vijay Sharma, Benjamin K C Ong
Journal, date & volume: , 2008 Aug , 15, 891-4
PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/18313928
Abstract
The S218L CACNA1A mutation has been previously described in two families with familial hemiplegic migraine. We present three siblings with the mutation with the novel association of childhood seizures, and highlight the dynamic changes seen on electroencephalography during hemiplegic migraine attacks. Depressed activity contralateral to the hemiparesis was seen on electroencephalography during acute hemiplegic migraine attacks, which may be due to changes to calcium channels caused by the S218L mutation. Both parents were asymptomatic and did not carry the S218L mutation in their blood. This suggests the presence of mosaicism in the transmitting parent.