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Article

Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L).

Epilepsia - 1 Sept 2004

Filocamo Mirella, Mazzotti Raffaella, Stroppiano Marina, Grossi Serena, Dravet Charlotte, Guerrini Renzo

Abstract excerpt

PURPOSE: Gaucher disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase, is characterized by genotypic and phenotypic heterogeneity. We recently characterized the glucocerebrosidase alleles of a patient with an unusual clinical presentation of type 3 Gaucher disease. METHODS...

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Source

Identifiers

PMID: 15329082
DOI: 10.1111/j.0013-9580.2004.15904.x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15329082-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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