Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease
Gaucher disease (GD) is a lysosomal storage disorder caused by biallelic GBA1 variants. Epilepsy is uncommon in GD and rarely manifests as progressive myoclonus epilepsy (PME), making early recognition difficult. We describe a 20-year-old man with childhood-onset myoclonus that progressed to drug-re...
I tiakina i:
| Ngā kaituhi matua: | , , , , , |
|---|---|
| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Frontiers Media S.A.
2026-01-01
|
| Rangatū: | Frontiers in Neuroscience |
| Ngā marau: | |
| Urunga tuihono: | https://www.frontiersin.org/articles/10.3389/fnins.2026.1742318/full |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
|