A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2.
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.
Striano
Pasquale
P
Epilepsy Center, Department of Neurological Sciences, Federico II University, Naples, Italy. sstriano@libero.it
Chifari
Rosanna
R
Striano
Salvatore
S
de Fusco
Maurizio
M
Elia
Maurizio
M
Guerrini
Renzo
R
Casari
Giorgio
G
Canevini
Maria Paola
MP
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