disease:Defects in KCTD7 are the cause of progressive myoclonic epilepsy type 3 (EPM3) [MIM:611726]. EPM3 is an autosomal recessive, severe, progressive myoclonic epilepsy with early-onset. Multifocal myoclonic seizures begin between 16 and 24 months of age after normal initial development. Neurodegeneration and regression occur with seizure onset. Other features include mental retardation, dysarthria, truncal ataxia, and loss of fine finger movements. EEG shows slow dysrhythmia, multifocal and occasionally generalized epileptiform discharges.,similarity:Contains 1 BTB (POZ) domain.,
Cell membrane. Cytoplasm, cytosol.
Brain,
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