Journal article
KCTD7‐related progressive myoclonic epilepsy: Report of 42 cases and review of literature
Abstract
OBJECTIVE: KCTD7-related progressive myoclonic epilepsy (PME) is a rare autosomal-recessive disorder. This study aimed to describe the clinical details and genetic variants in a large international cohort.
METHODS: Families with molecularly confirmed diagnoses of KCTD7-related PME were identified through international collaboration. Furthermore, a systematic review was done to identify previously reported cases. Salient demographic, epilepsy, …
Authors
Yoganathan S; Whitney R; Thomas M; Danda S; Chettali AM; Prasad AN; Farhan SMK; AlSowat D; Abukhaled M; Aldhalaan H
Journal
Epilepsia, Vol. 65, No. 3, pp. 709–724
Publisher
Wiley
Publication Date
March 2024
DOI
10.1111/epi.17880
ISSN
0013-9580