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Article

Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus.

Archives of neurology - 1 Apr 2012

Crompton Douglas E, Sadleir Lynette G, Bromhead Catherine J, Bahlo Melanie, Bellows Susannah T, Arsov Todor, Harty Rosemary, Lawrence Kate M, Dunne John W, Berkovic Samuel F, Scheffer Ingrid E

Abstract excerpt

BACKGROUND: Familial adult myoclonic epilepsy (FAME) is an autosomal dominant syndrome characterized by a core triad of cortical tremor, multifocal myoclonus, and generalized tonic-clonic seizures. OBJECTIVES: To expand the phenotypic spectrum of FAME, to highlight diagnostic pointers to this underrecognized disorder, and to refine the FAME2 genetic locus. DESIGN: Observational family study. SETTING: The study...

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Identifiers

PMID: 22491192
DOI: 10.1001/archneurol.2011.584

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