KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature
Abstract
Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM# 611726) is a rare autosomal recessive condition associated with pathogenic variants in KCTD7, which encodes the BR-C,ttk and bab/pox virus and zinc finger domain-containing KCTD7 protein. We report four individuals from three Indian families presenting with an initial period of normal development, progressive myoclonic seizures followed by neuroregression and an...
Paper Details
Title
KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature
Published Date
Oct 11, 2021
Journal
Volume
31
Issue
1
Pages
6 - 10
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