GJB2

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.

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