| Literature DB >> 14738428 |
Pasquale Striano1, Rosanna Chifari, Salvatore Striano, Maurizio de Fusco, Maurizio Elia, Renzo Guerrini, Giorgio Casari, Maria Paola Canevini.
Abstract
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.Entities:
Mesh:
Year: 2004 PMID: 14738428 DOI: 10.1111/j.0013-9580.2004.39903.x
Source DB: PubMed Journal: Epilepsia ISSN: 0013-9580 Impact factor: 5.864