KCTD7-related progressive myoclonic epilepsy: Report of three Indian families and review of literature

Document Type

Article

Publication Title

Clinical Dysmorphology

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 abnormal electroencephalogram. We identified two novel missense variants, c.458G>C p.(Arg153Pro) and c.205C>G p.(Leu69Val) and one known disease-causing variant, c.280C>T p.(Arg94Trp) in KCTD7 by exome sequencing. We review the literature of 67 individuals with variants in KCTD7. Our study expands the molecular spectrum of KCTD7-related progressive myoclonic epilepsy. Clin Dysmorphol 31: 6-10 Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.

First Page

6

Last Page

10

DOI

10.1097/MCD.0000000000000394

Publication Date

1-1-2022

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