Myoclonic epilepsy of late onset in trisomy 21

Lm. Li, M.F. O'donoghue, J.W.A.S. Sander
1995 Arquivos de Neuro-Psiquiatria  
We report the case of a patient with trisomy 21 (T21) with late onset epilepsy. The electro-clinical features were of myoclonic jerks on awakening and generalised tonic clonic seizures, with generalised spike and wave on EEG, and a progressive dementia. As familial Alzheimer's dementia and progressive myoclonic epilepsy (Unverricht-Lundborg type) are both linked to the chromosome 21, this case may represent a distinct progressive myoclonic epilepsy related to T21.
doi:10.1590/s0004-282x1995000500014 pmid:8729775 fatcat:sy2db5e5qffbzbh2gy5iezo74y