A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.
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 and electrophysiological studies revealed that 13 were affected with BAFME. There were a total of 24 individuals studied. Genetic analysis by genome-wide linkage study (GWLS) was performed using 400 microsatellite markers and excluded linkage of the previous BAFME loci, 8q23.3-q24.1, and 2p11.1-q12.2. GWLS showed that the disease-associated region in our Thai family was linked to a newly identified locus on chromosome 3q26.32-3q28. This locus represents the fourth chromosomal region for BAFME.
Inter-Department Program of Biomedical Sciences, Faculty of Graduate School, Chulalongkorn University, Bangkok, Thailand.
Patra
P
Yeetong
Surasawadee
S
Ausavarat
Roongroj
R
Bhidayasiri
Krisna
K
Piravej
Nath
N
Pasutharnchat
Tayard
T
Desudchit
Chaipat
C
Chunharas
Jakrin
J
Loplumlert
Chusak
C
Limotai
Kanya
K
Suphapeetiporn
Vorasuk
V
Shotelersuk
D000328:Adult; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000235:genetics / Q000503:physiopathology; D008040:Genetic Linkage; D006801:Humans; D018895:Microsatellite Repeats / Q000235:genetics*; D010375:Pedigree; D014202:Tremor / Q000503:physiopathology