Striano Pasquale, Chifari Rosanna, Striano Salvatore, de Fusco Maurizio, Elia Maurizio, Guerrini Renzo, Casari Giorgio, Canevini Maria Paola
Epilepsy Center, Department of Neurological Sciences, Federico II University, Naples, Italy.
Epilepsia. 2004 Feb;45(2):190-2. doi: 10.1111/j.0013-9580.2004.39903.x.
Benign adult familial myoclonic epilepsy (BAFME) is an autosomal dominant condition characterized by cortical tremor and generalized seizures, mapped on chromosome 8q24 by Japanese authors. Recently the same phenotype also was reported in European families, with linkage on chromosome 2. We present a new family with suggestion of linkage to chromosome 2p11.1-2q12.2 (lod score value, 1.55). This observation would confirm that BAFME is a worldwide, genetically heterogeneous condition, probably with Japanese families linked to 8q24 and European families to 2p11.1-q12.2.
良性成人家族性肌阵挛性癫痫（BAFME）是一种常染色体显性疾病，其特征为皮质震颤和全身性癫痫发作，日本学者将其基因定位在8号染色体q24区域。最近，欧洲家族中也报道了相同的表型，其基因连锁于2号染色体。我们报告了一个新家族，提示其基因连锁于2号染色体p11.1 - 2q12.2区域（对数优势分数值为1.55）。这一观察结果将证实BAFME是一种全球范围内具有遗传异质性的疾病，可能日本家族与8q24区域相关，而欧洲家族与2p11.1 - q12.2区域相关。
