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Clinical and genetic data on Lafora disease patients of Serbian/Montenegrin origin.

Clinical genetics - 1 Jan 2016

Kecmanović M, Jović N, Keckarević-Marković M, Keckarević D, Stevanović G, Ignjatović P, Romac S

Abstract excerpt

Lafora disease (LD) is an autosomal recessive, progressive disorder characterized by myoclonus and seizures, inexorable neurologic deterioration, cognitive decline and poor prognosis. LD is caused by mutations either in the EPM2A or in NHLRC1 genes. Here we report clinical and genetic findings on 14 LD patients from 10 families of Serbian/Montenegrin origin. Molecular diagnostics was performed by sequencing the...

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PMID: 25683376
DOI: 10.1111/cge.12570

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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