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progressive myoclonic epilepsy type 1
Genetics:
- autosomal recessive
- associated with defects in CSTB
Clinical manifestations:
- severe, stimulus-sensitive myoclonus & tonic-clonic seizures
- convulsions occur between 6 & 13 years of age
- myoclonus begins 1 to 5 years later
- twitchings occur predominantly in proximal muscles of the extremities & are bilaterally symmetrical, but asynchronous
- twitchings are small initially, but worsen late in the clinical course, may be so violent that the victim is thrown to the floor
- mental deterioration & eventually dementia develop
General
myoclonic epilepsy
Database Correlations
OMIM 254800
References
- OMIM :accession 254800
- UniProt :accession P04080