Autosomal dominant cortical tremor, myoclonus and epilepsy: many syndromes, one phenotype.

Abstract:

:The association of cortical tremor, myoclonus and epileptic seizures has been reported in many Japanese and European families with different acronyms. We reviewed the familial cases presenting the clinical picture of autosomal dominant cortical tremor, myoclonus and epilepsy and analysed the phenotypic differences between the pedigrees, according to the recent genetic acquisitions. We concluded that BAFME, FAME, FEME, FCTE and ADCME are the same clinical entity even if genetically heterogeneous, with Japanese families linked to 8q24 and Italian ones to 2p11.1-q12. A third locus could also be involved. Further studies should better clarify the electrophysiological features of this condition and identify the underlying molecular defects.

journal_name

Acta Neurol Scand

authors

Striano P,Zara F,Striano S

doi

10.1111/j.1600-0404.2005.00385.x

subject

Has Abstract

pub_date

2005-04-01 00:00:00

pages

211-7

issue

4

eissn

0001-6314

issn

1600-0404

pii

ANE385

journal_volume

111

pub_type

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