Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation

• Published in: Journal of clinical neuroscience Vol. 15; no. 8; pp. 891 - 894
• Main Authors: Chan, Yee-Cheun, Burgunder, Jean-Marc, Wilder-Smith, Einar, Chew, Soh-Eng, Lam-Mok-Sing, Karen M.J, Sharma, Vijay, Ong, Benjamin K.C
• Format: Journal Article
• Language: English
• Published: Scotland Elsevier Ltd 01.08.2008
• Subjects: Adolescent; Adult; CACNA1A gene; Calcium Channels - genetics; Child; Cortical spreading depression; DNA Mutational Analysis - methods; Electroencephalography; Familial hemiplegic migraine; Family Health; Female; Germline mosaicism; Humans; Leucine - genetics; Magnetic Resonance Imaging; Male; Migraine with Aura - complications; Migraine with Aura - genetics; Mutation; Neurology; S218L; Seizure; Seizures - etiology; Serine - genetics; Germline mosaicism; Familial hemiplegic migraine; CACNA1A gene; Cortical spreading depression; Seizure; Electroencephalography; S218L
• ISSN: 0967-5868; 1532-2653
• DOI: 10.1016/j.jocn.2007.01.013

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.