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Familial Adult Myoclonic Epilepsy Recognition of Mild Phenotypes and Refinement of the 2q Locus

Lookup NU author(s): Dr Douglas Crompton


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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 under-recognized disorder, and to refine the FAME2 genetic locus. Design: Observational family study. Setting: The study was coordinated in a tertiary academic hospital, with data acquired in diverse primary, secondary, and tertiary care settings. Participants: Consenting members of a single large family. Results: A 6-generation FAME kindred of European descent was ascertained in New Zealand and Australia. Affected family members (N = 55) had fine hand tremor, with onset typically in adolescence (median age, 15 years; age range, 4-60 years). Proximal myoclonus was present in 44 of 55 (80%), arising later than hand tremor (median age, 17 years; age range, 5-60 years). Generalized tonic-clonic seizures occurred in 8 of 55 (15%), with a median age at onset of 43.5 years (age range, 18-76 years). Neurophysiological testing confirmed features of cortical reflex myoclonus. Genetic mapping narrows the FAME2 (OMIM 607876) locus on chromosome 2 to a 13.3-megabase interval, harboring 99 known protein-coding genes. Conclusions: The most common FAME phenotype in this large family is mild postural hand tremor resembling essential tremor, combined with subtle proximal myoclonus. Generalized tonic-clonic seizures are uncommon and occur around sleep onset following severe generalized myoclonus.

Publication metadata

Author(s): Crompton DE, Sadleir LG, Bromhead CJ, Bahlo M, Bellows ST, Arsov T, Harty R, Lawrence KM, Dunne JW, Berkovic SF, Scheffer IE

Publication type: Article

Publication status: Published

Journal: Archives of Neurology

Year: 2012

Volume: 69

Issue: 4

Pages: 474-481

Print publication date: 01/04/2012

ISSN (print): 0003-9942

ISSN (electronic): 1538-3687

Publisher: American Medical Association


DOI: 10.1001/archneurol.2011.584


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