Chan, Yee-Cheun; Burgunder, Jean-Marc; Wilder-Smith, Einar; Chew, Soh-Eng; Lam-Mok-Sing, Karen M J; Sharma, Vijay; Ong, Benjamin K C (2008). Electroencephalographic changes and seizures in familial hemiplegic migraine patients with the CACNA1A gene S218L mutation. Journal of clinical neuroscience, 15(8), pp. 891-4. Amsterdam: Elsevier 10.1016/j.jocn.2007.01.013
Full text not available from this repository.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.
Item Type: |
Journal Article (Original Article) |
|---|---|
Division/Institute: |
04 Faculty of Medicine > Department of Head Organs and Neurology (DKNS) > Clinic of Neurology |
UniBE Contributor: |
Burgunder, Jean-Marc |
ISSN: |
0967-5868 |
ISBN: |
18313928 |
Publisher: |
Elsevier |
Language: |
English |
Submitter: |
Factscience Import |
Date Deposited: |
04 Oct 2013 15:05 |
Last Modified: |
05 Dec 2022 14:20 |
Publisher DOI: |
10.1016/j.jocn.2007.01.013 |
PubMed ID: |
18313928 |
Web of Science ID: |
000257868600008 |
URI: |
https://boris.unibe.ch/id/eprint/28379 (FactScience: 120478) |
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