A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28
作者： Patra Yeetong , Surasawadee Ausavarat , Roongroj Bhidayasiri , Krisna Piravej , Nath Pasutharnchat
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摘要: Benign Adult Familial Myoclonic Epilepsy (BAFME) is an autosomal dominant disorder characterized by adult-onset cortical tremor or action myoclonus predominantly in the upper limbs, and generalized seizures. We investigated a Thai BAFME family. Clinical electrophysiological studies revealed that 13 were affected with BAFME. There total of 24 individuals studied. Genetic analysis genome-wide linkage study (GWLS) was performed using 400 microsatellite markers excluded previous loci, 8q23.3-q24.1, 2p11.1-q12.2. GWLS showed disease-associated region our family linked to newly identified locus on chromosome 3q26.32-3q28. This represents fourth chromosomal for
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