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Article

EEG abnormalities in patients with chronic neuronopathic Gaucher disease: A retrospective review.

Molecular genetics and metabolism - 1 Nov 2020

Poffenberger Chelsie N, Inati Sara, Tayebi Nahid, Stubblefield Barbara K, Ryan Emory, Schiffmann Raphael, Sidransky Ellen, Lopez Grisel

Abstract excerpt

The clinical phenotype of Gaucher disease type 3 (GD3), a neuronopathic lysosomal storage disorder, encompasses a wide array of neurological manifestations including neuro-ophthalmological findings, developmental delay, and seizures including progressive myoclonic epilepsy. Electroencephalography (EEG) is a widely available tool used to identify abnormalities in cerebral function, as well as epileptiform...

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Identifiers

PMID: 33183916
DOI: 10.1016/j.ymgme.2020.10.010
PMCID: PMC7736529

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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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