Species | Mus musculus |
Alternate Name(s) | Cx26,Cnx26,Gjb-2 |
Epilepsy-Associated Disorder(s) | Vohwinkel Syndrome |
Description | gap junction protein, beta 2 |
Chromosome | 14 |
Locus | 14 D1-E1; 14 21.0 cM |
Reference(s) | Castro PJ, Fernandez CN, Subirana PQ, Ortiz MP. Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations. Seizure. 2010 Mar;19(2):129-31. Epub 2010 Jan 19. |