Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation.
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.
Chan
Yee-Cheun
YC
Division of Neurology, National University Hospital, 5 Lower Kent Ridge Road, Singapore 119074, Singapore. yeecheun@yahoo.com.sg
Burgunder
Jean-Marc
JM
Wilder-Smith
Einar
E
Chew
Soh-Eng
SE
Lam-Mok-Sing
Karen M J
KM
Sharma
Vijay
V
Ong
Benjamin K C
BK
D000293:Adolescent; D000328:Adult; D015220:Calcium Channels / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D004569:Electroencephalography; D005192:Family Health; D005260:Female; D006801:Humans; D007930:Leucine / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D020325:Migraine with Aura / Q000150:complications* / Q000235:genetics*; D009154:Mutation; D012640:Seizures / Q000209:etiology*; D012694:Serine / Q000235:genetics*; D020864:Calcium Channels, N-Type
D015220:Calcium Channels; D007930:Leucine; D012694:Serine; C105656:CACNA1A protein, human; D020864:Calcium Channels, N-Type