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


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.

SUBMITTER: Yeetong P 

PROVIDER: S-EPMC3548266 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature

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

Yeetong Patra P   Ausavarat Surasawadee S   Bhidayasiri Roongroj R   Piravej Krisna K   Pasutharnchat Nath N   Desudchit Tayard T   Chunharas Chaipat C   Loplumlert Jakrin J   Limotai Chusak C   Suphapeetiporn Kanya K   Shotelersuk Vorasuk V  

European journal of human genetics : EJHG 20120620 2


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  ...[more]

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