Potassium Channel Tetramerisation Domain Containing Protein 7 (KCTD7)

The KCTD gene family, including KCTD7, encode predicted proteins that contain N-terminal domain that is homologous to the T1 domain in voltage-gated potassium channels . KCTD7 displays a primary sequence and hydropathy profile indicating intracytoplasmic localization. EST database analysis showed that KCTD7 is expressed in human and mouse brain. The patients had onset of myoclonic seizures and neurodegeneration between 16 and 24 months of age. The phenotype was severe and included mental retardation. The unaffected parents were heterozygous for the mutation.In 3 affected members of a large consanguineous Moroccan family with progressive myoclonic epilepsy-3 (EPM3), Van Bogaert et al. (2007) identified a homozygous mutation in the KCTD7 gene .