title: 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.
authors.affiliation: Department of Neurological Sciences, Epilepsy Center, Federico II University, Naples, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Striano
authors.forename: F
authors.initials: F
authors.lastname: Zara
authors.forename: S
authors.initials: S
authors.lastname: Striano
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D004562:Electrocardiography; D004831:Epilepsies, Myoclonic / Q000235:genetics* / Q000503:physiopathology*; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy; D007564:Japan; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010641:Phenotype; D012189:Retrospective Studies; D013577:Syndrome; D014202:Tremor / Q000235:genetics* / Q000503:physiopathology*