A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26. 32-3q28

P Yeetong, S Ausavarat, R Bhidayasiri… - European Journal of …, 2013 - nature.com
P Yeetong, S Ausavarat, R Bhidayasiri, K Piravej, N Pasutharnchat, T Desudchit
European Journal of Human Genetics, 2013nature.com
Abstract 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 …
Abstract
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.
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