2024-12-2920241294-936110.1002/epd2.202042-s2.0-85192234636https://doi.org/10.1002/epd2.20204https://hdl.handle.net/20.500.14288/22299Clinical neurologyA genetic cause for intractable seizures: atypical Gaucher disease with a novel pathological variantJournal article1950-69451215076800001Q340421