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Article

Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.

Epilepsy research - 1 Mar 2024

Ilyas Muhammad, Tariq Faiza, Ishaq Rafaqat, Habiba Umme, Bibi Farah, Khan Sadiq Noor, Ali Yasir, Haider Shehzad, Efthymiou Stephanie, Abdullah Uzma, Raja Ghazala Kaukab, Shaiq Pakeeza Arzoo

Abstract excerpt

Progressive myoclonic epilepsies (PMEs) are a group of neurodegenerative disorders, predominantly affecting adolescents and, characterized by generalized worsening myoclonus epilepsies, ataxia, cognitive deficits, and dementia. To date, several genes, having implications in diverse phenotypic expressions associated with PMEs, have been identified. Genetic diagnosis is available for most of the adolescence-onset...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 38382230
DOI: 10.1016/j.eplepsyres.2023.107283

Genes

CLN6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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