A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28
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Striano P, de Falco FA, Minetti C, Zara F : Familial benign nonprogressive myoclonic epilepsies. Epilepsia 2009; 50 (Suppl 5): 37–40.
Regragui W, Gerdelat-Mas A, Simonetta-Moreau M : Cortical tremor (FCMTE: familial cortical myoclonic tremor with epilepsy). Neurophysiol Clin 2006; 36: 345–349.
Ikeda A, Kakigi R, Funai N, Neshige R, Kuroda Y, Shibasaki H : Cortical tremor: a variant of cortical reflex myoclonus. Neurology 1990; 40: 1561–1565.
Depienne C, Magnin E, Bouteiller D et al. Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p. Neurology 2010; 74: 2000–2003.
Mikami M, Yasuda T, Terao A et al. Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. Am J Hum Genet 1999; 65: 745–751.
Plaster NM, Uyama E, Uchino M et al. Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. Neurology 1999; 53: 1180–1183.
Guerrini R, Bonanni P, Patrignani A et al. Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: a newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2. Brain 2001; 124: 2459–2475.
de Falco FA, Striano P, de Falco A et al. Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME. Neurology 2003; 60: 1381–1385.
Mori S, Nakamura M, Yasuda T, Ueno S, Kaneko S, Sano A : Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree. J Hum Genet 56: 742–747.
Deng FY, Gong J, Zhang YC et al. Absence of linkage to 8q23.3-q24.1 and 2p11.1-q12.2 in a new BAFME pedigree in China: indication of a third locus for BAFME. Epilepsy Res 2005; 65: 147–152.