Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME.
Benign adult familial myoclonic epilepsy (BAFME) has been mapped to chromosome 8q24; however, genetic heterogeneity has been recently suggested. The authors report a clinical and electrophysiologic study of two Italian BAFME families showing linkage to chromosome 2p11.1-q12.2. Their report supports the evidence of non-Japanese families with BAFME and suggests a possible allelism with the recently described autosomal dominant cortical myoclonus and epilepsy syndrome.
de Falco
F A
FA
Department of Neurology, Loreto Nuovo Hospital, Naples, Italy. defalco@tin.it
Striano
P
P
de Falco
A
A
Striano
S
S
Santangelo
R
R
Perretti
A
A
Balbi
P
P
Cecconi
M
M
Zara
F
F
D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D002648:Child; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D005073:Evoked Potentials, Somatosensory; D005260:Female; D005799:Genes, Dominant; D018740:Genetic Heterogeneity; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008126:Lod Score; D008297:Male; D008875:Middle Aged; D020191:Myoclonic Epilepsies, Progressive / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014202:Tremor / Q000235:genetics