Journal article

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

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



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 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 Australi..

View full abstract


Funding Acknowledgements

Dr Scheffer has served on scientific advisory boards for UCB and Janssen-Cilag EMEA; serves on the editorial boards of Annals of Neurology and Epileptic Disorders; may accrue future revenue on pending patent WO61/010176 (filed in 2008) for Therapeutic Compound; has received speaker honoraria from Athena Diagnostics, UCB, Janssen-Cilag EMEA, and Eli Lilly and Company; has received funding for travel from Athena Diagnostics, UCB, and Janssen-Cilag EMEA; and receives and has received research support from the National Health and Medical Research Council of Australia, Health Research Council of New Zealand, The University of Melbourne, American Epilepsy Society, the Jack Brockhoff Foundation, the Shepherd Foundation, and the Perpetual Charitable Trustees.This work was supported by an Educational Fellowship Award from UCB Pharma (Dr Crompton), by a National Health and Medical Research Council of Australia Career Development Award (Dr Bahlo), and by program grants from the National Health and Medical Research Council of Australia (Drs Bahlo, Berkovic, and Scheffer).