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Article

Mutation of the CLN6 gene in teenage-onset progressive myoclonus epilepsy.

Pediatric neurology - 1 Sept 2012

Andrade Danielle M, Paton Tara, Turnbull Julie, Marshall Christian R, Scherer Stephen W, Minassian Berge A

Abstract excerpt

Progressive myoclonus epilepsies are severe, intractable, and neurodegenerative. They afflict patients of all ages, but more commonly adolescents, and comprise the main differential diagnosis of common juvenile myoclonic epilepsy. Genetic or minimally invasive pathologic diagnoses are available for many but not all teenage-onset progressive myoclonus epilepsies. We describe a multiplex family with autosomal...

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Source

Identifiers

PMID: 22883287
DOI: 10.1016/j.pediatrneurol.2012.05.004

Genes

CLN6

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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