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Article

Lafora disease: severe phenotype associated with homozygous deletion of the NHLRC1 gene.

Journal of the neurological sciences - 15 Feb 2013

Kecmanović Miljana, Jović Nebojša, Cukić Mirjana, Keckarević-Marković Milica, Keckarević Dušan, Stevanović Galina, Romac Stanka

Abstract excerpt

Lafora disease (LD) is a severe, autosomal recessive, latechildhood- to teenage-onset, progressive myoclonic epilepsy. It is due to either EPM2A or NHLRC1 mutations. We describe a patient with homozygous deletion encompassing the entire NHLRC1 gene, not previously reported, and with clinical course more progressive than in the most patients with NHLRC1 mutations. The diagnosis of LD in our patient was based on...

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Identifiers

PMID: 23317923
DOI: 10.1016/j.jns.2012.12.006

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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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