title: A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2.
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.
authors.affiliation: Epilepsy Center, Department of Neurological Sciences, Federico II University, Naples, Italy. sstriano@libero.it
authors.forename: Pasquale
authors.initials: P
authors.lastname: Striano
authors.forename: Rosanna
authors.initials: R
authors.lastname: Chifari
authors.forename: Salvatore
authors.initials: S
authors.lastname: Striano
authors.forename: Maurizio
authors.initials: M
authors.lastname: de Fusco
authors.forename: Maurizio
authors.initials: M
authors.lastname: Elia
authors.forename: Renzo
authors.initials: R
authors.lastname: Guerrini
authors.forename: Giorgio
authors.initials: G
authors.lastname: Casari
authors.forename: Maria Paola
authors.initials: MP
authors.lastname: Canevini
mesh_terms: D000328:Adult; D000368:Aged; D002889:Chromosomes, Human, Pair 2; D004831:Epilepsies, Myoclonic / Q000145:classification / Q000235:genetics*; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype