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progressive myoclonic epilepsy type 3

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.
Uniprot Description 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. In some patients, ultrastructural findings on skin biopsies identify intracellular accumulation of autofluorescent lipopigment storage material, consistent with neuronal ceroid lipofuscinosis.
Mondo Term and Equivalent IDs
MONDO:0012721:  progressive myoclonic epilepsy type 3
DOID:0111446: 
GARD:0002167: 
MESH:C567095: 
Orphanet:263516: 
UMLS:C2673257: