Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014547 (focal epilepsy)
 1,627 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Vohwinkel Syndrome (VS) is a type of diffuse hereditary palmoplantar keratodermas (DHPPK) accompanied by skeletal dimorphisms and sensorineural deafness. The most frequently reported genetic substrate in VS is a point mutation of GJB2 gene, responsible for encoding connexin 26, a gap-junction protein with a crucial role in neuronal migration in rats. We report the case of a 21-year-old male who is a second-generation member of a family with VS and developed cryptogenic focal epilepsy. Genetic study showed a nucleotide change (c.196G>C) in exon 1 of GJB2 gene, producing a missense mutation, D66H. It is plausible that a functional alteration of connexin 26, such as that resulting of the mutation of our case, can produce an alteration in cortical development with epileptogenic potential. The present case and experimental evidence that connexin 26 is related to animal epileptogenesis suggest that the phenotypic spectrum of VS could be expanded to include epileptic manifestations.
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PMID:Vohwinkel Syndrome secondary to missense mutation D66H in GJB2 gene (connexin 26) can include epileptic manifestations. 2003 51