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• W2023244839 abstract "Background: Familial adult myoclonic epilepsy (FAME) is defined by autosomal dominant inheritance, adult onset of myoclonus of the extremities, infrequent epileptic seizures, nonprogressive course, abnormality of polyspikes and waves on examination by EEG and photosensitivity, giant somatosensory evoked potentials, enhancement of C reflex, and premyoclonus spike detected by means of the jerk-locked averaging EEG method. These findings were also observed in patients with benign adult familial myoclonic epilepsy (BAFME) and patients with familial cortical tremor. FAME and BAFME have been described only in Japan. The genes responsible for FAME and BAFME were mapped in the same genetic interval in 8q22.3-q24.1 Objective: To study clinical and genetic characteristics of a European family with FAME. Methods: A four-generation European kindred presenting with FAME, including 18 members, is described. Clinical analysis was performed on 15 living subjects and electrophysiologic study on 5 patients. Linkage analysis was performed with fluorescent microsatellites encompassing the FAME/BAFME locus (8q23.3-q24.1). Results: Ten living and three deceased relatives had the clinical characteristics of FAME. Mean age at onset of the 10 living patients was 41 years (range, 30–60 years). Eight of the 13 affected subjects had generalized tonic-clonic seizures. Electrophysiologic studies confirmed the diagnosis of FAME in the five patients studied. The pattern of inheritance was consistent with an autosomal dominant inheritance. The locus responsible for FAME/BAFME was excluded. Conclusion: Observation of a European family extends the occurrence of familial adult myoclonic epilepsy to non-Japanese patients. Exclusion of linkage of this family to the locus for familial adult myoclonic epilepsy/benign adult familial myoclonic epilepsy established the genetic heterogeneity of this disorder." @default.
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• W2023244839 date "2002-03-26" @default.
• W2023244839 modified "2023-10-07" @default.
• W2023244839 title "Absence of linkage to 8q24 in a European family with familial adult myoclonic epilepsy (FAME)" @default.
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• W2023244839 doi "https://doi.org/10.1212/wnl.58.6.941" @default.
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