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Article

Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families.

Epilepsy research - 1 Feb 2012

Salar Seda, Yeni Naz, Gündüz Ayşegül, Güler Ayşe, Gökçay Ahmet, Velioğlu Sibel, Gündoğdu Aslı, Hande Çağlayan S

Abstract excerpt

Lafora disease (LD) is a type of autosomal recessive, progressive myoclonus epilepsy resulting mostly from mutations in the EPM2A and NHLRC1 genes. Mutational analysis in both genes was initiated with the aim of establishing LD DNA diagnosis in Turkey. Four novel NHLRC1 (p.G131X, p.P69S and p.D82...

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Identifiers

PMID: 22047982
DOI: 10.1016/j.eplepsyres.2011.09.020

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22047982-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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