Article
Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1.
Nature genetics - 1 Apr 1997
Virtaneva K, D'Amato E, Miao J, Koskiniemi M, Norio R, Avanzini G, Franceschetti S, Michelucci R, Tassinari C A, Omer S, Pennacchio L A, Myers R M, Dieguez-Lucena J L, Krahe R, de la Chapelle A, Lehesjoki A E
Abstract excerpt
Progressive myoclonus epilepsy of Unverricht-Lundborg type (EPM1; MIM 254800) is an autosomal recessive disorder that occurs with a low frequency in many populations but is more common in Finland and the Mediterranean region. It is characterized by stimulus-sensitive myoclonus and tonic-clonic seizures with onset at age 6-15 years, typical electroencephalographic abnormalities and a variable rate of progression...
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