Article
Unverricht-Lundborg progressive myoclonus epilepsy in Oman.
Pediatric neurology - 1 Apr 2008
Santoshkumar Balagopal, Turnbull Julie, Minassian Berge A
Abstract excerpt
We analyzed the clinical, electrophysiologic, and genetic features of Omani Arab patients suspected of manifesting the Unverricht-Lundborg form of progressive myoclonus epilepsy. Ten patients (five boys, five girls; mean age at onset, 10.2 years) were evaluated. Unverricht-Lundborg disease was confirmed in all by detection of dodecamer repeat expansion mutations in the EPM1 gene. There was no correlation between...
Topics
- Adolescent
- Adult
- Arabs
- Child
- Chromosomes, Human, Pair 12
- Cohort Studies
- Cystatin B
- Cystatins
- Electroencephalography
- Evoked Potentials
- Female
- Humans
- Male
- Oman
- Phenotype
- Retrospective Studies
- Unverricht-Lundborg Syndrome
