Benign Adult Familial Myoclonic Epilepsy is an AD syndrome characterized from a non progressive cortical tremor resembling essential tremor, myoclonus and rare GTCS, first described from Japanese AA. Despite the different acronyms used (FEME, FCTE, BAFME, FAME), it seems to be a well definite clinical picture. Recently, non-Japanese families with similar phenotype, have been also described. We have already reported two, and recently observed a third, Italian families with linkage to chromosome 2p11.1-q12.2. In our opinion, this syndrome has a worldwide diffusion; it is genetically heterogeneous and might be overlooked.
FEME, BAFME, FAME, FCTE, ADCME,..: lo spettro dell'Epilessia Mioclonica familiare benigna dell'adulto: review dei casi della letteratura = FEME, FCTE, BAFME, FAME, ADCME,...: the spectrum of benign adult familial Myoclonic Epilepsy: review of Literature's cases / P.A. Striano, R. Chifari, P. Boccella, M.P. Canevini, M. Zara, G. Casari, F.D. Falco, R. Canger, R. Striano. - In: BOLLETTINO-LEGA ITALIANA CONTRO L'EPILESSIA. - ISSN 0394-560X. - 121-122(2003), pp. 255-257.
FEME, BAFME, FAME, FCTE, ADCME,..: lo spettro dell'Epilessia Mioclonica familiare benigna dell'adulto: review dei casi della letteratura = FEME, FCTE, BAFME, FAME, ADCME,...: the spectrum of benign adult familial Myoclonic Epilepsy: review of Literature's cases
R. ChifariSecondo
;M.P. Canevini;R. Canger;
2003
Abstract
Benign Adult Familial Myoclonic Epilepsy is an AD syndrome characterized from a non progressive cortical tremor resembling essential tremor, myoclonus and rare GTCS, first described from Japanese AA. Despite the different acronyms used (FEME, FCTE, BAFME, FAME), it seems to be a well definite clinical picture. Recently, non-Japanese families with similar phenotype, have been also described. We have already reported two, and recently observed a third, Italian families with linkage to chromosome 2p11.1-q12.2. In our opinion, this syndrome has a worldwide diffusion; it is genetically heterogeneous and might be overlooked.Pubblicazioni consigliate
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