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Clinical and genetic findings in 26 Italian patients with Lafora disease.

Epilepsia - 1 Mar 2006

Franceschetti Silvana, Gambardella Antonio, Canafoglia Laura, Striano Pasquale, Lohi Hannes, Gennaro Elena, Ianzano Leonarda, Veggiotti Pierangelo, Sofia Vito, Biondi Roberto, Striano Salvatore, Gellera Cinzia, Annesi Grazia, Madia Francesca, Civitelli Donata, Rocca Francesca E, Quattrone Aldo, Avanzini Giuliano, Minassian Berge, Zara Federico

Abstract excerpt

PURPOSE: EPM2B mutations have been found in a variable proportion of patients with Lafora disease (LD). Genotype-phenotype correlations suggested that EPM2B patients show a slower course of the disease, with delayed age at death, compared with EPM2A patients. We herein report clinical and genetic...

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Identifiers

PMID: 16529633
DOI: 10.1111/j.1528-1167.2006.00479.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16529633-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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