A genetic cause for intractable seizures: Atypical Gaucher disease with a novel pathological variant

Epileptic Disord. 2024 Jun;26(3):392-394. doi: 10.1002/epd2.20204. Epub 2024 May 7.

Authors

Selen Üçem¹, Şahin Avcı², Candan Gürses¹

Affiliations

¹ Department of Neurology, Koc University Hospital, Istanbul, Turkey.
² Department of Medical Genetics, Koç University Hospital, Istanbul, Turkey.

PMID: 38713482
DOI: 10.1002/epd2.20204

No abstract available

Publication types

Case Reports

MeSH terms

Drug Resistant Epilepsy / genetics
Drug Resistant Epilepsy / physiopathology
Female
Gaucher Disease* / complications
Gaucher Disease* / genetics
Gaucher Disease* / physiopathology
Glucosylceramidase / genetics
Humans
Male
Seizures / etiology
Seizures / genetics
Seizures / physiopathology

Substances

Glucosylceramidase