Article
Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1.
Nature genetics - 1 Mar 1997
Lafrenière R G, Rochefort D L, Chrétien N, Rommens J M, Cochius J I, Kälviäinen R, Nousiainen U, Patry G, Farrell K, Söderfeldt B, Federico A, Hale B R, Cossio O H, Sørensen T, Pouliot M A, Kmiec T, Uldall P, Janszky J, Pranzatelli M R, Andermann F, Andermann E, Rouleau G A
Abstract excerpt
Progressive myoclonus epilepsy type 1 (EPM1, also known as Unverricht-Lundborg disease) is an autosomal recessive disorder characterized by progressively worsening myoclonic jerks, frequent generalized tonic-clonic seizures, and a slowly progressive decline in cognition. Recently, two mutations in the cystatin B gene (also known as stefin B, STFB) mapping to 21q22.3 have been implicated in the EPM1 phenotype: a...
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