Article
SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure.
Annals of neurology - 1 Oct 2009
Dibbens L M, Michelucci R, Gambardella A, Andermann F, Rubboli G, Bayly M A, Joensuu T, Vears D F, Franceschetti S, Canafoglia L, Wallace R, Bassuk A G, Power D A, Tassinari C A, Andermann E, Lehesjoki A E, Berkovic S F
Abstract excerpt
OBJECTIVE: Mutations in SCARB2 were recently described as causing action myoclonus renal failure syndrome (AMRF). We hypothesized that mutations in SCARB2 might account for unsolved cases of progressive myoclonus epilepsy (PME) without renal impairment, especially those resembling Unverricht-Lundborg disease (ULD). Additionally, we searched for mutations in the PRICKLE1 gene, newly recognized as a cause of PME...
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