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Benign Adult Familial Myoclonic Epilepsy

Disease ID:133
Name:Benign Adult Familial Myoclonic Epilepsy
Associated with:1 target
Database Links
OMIM: 601068


Role:  The BAFME susceptibility locus has been mapped to 8q23-24, thus KCNV1 represents a compelling candidate in terms of both position and function but no pathogenic mutations have been identified.
Comments:  Developing mutation screening for KCNV1 in epileptic disease.
References:  1-3


No ligand related data available for Benign Adult Familial Myoclonic Epilepsy


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1. Ebihara M, Ohba H, Kikuchi M, Yoshikawa T. (2004) Structural characterization and promoter analysis of human potassium channel Kv8.1 (KCNV1) gene. Gene, 325: 89-96. [PMID:14697513]

2. Mikami M, Yasuda T, Terao A, Nakamura M, Ueno S, Tanabe H, Tanaka T, Onuma T, Goto Y, Kaneko S, Sano A. (1999) Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. Am J Hum Genet, 65 (3): 745-51. [PMID:10441581]

3. Mori S, Nakamura M, Yasuda T, Ueno S, Kaneko S, Sano A. (2011) Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree. J Hum Genet, 56 (10): 742-7. [PMID:21850007]