Article

Neurodevelopmental origin of seizures in Lowe syndrome

2025-12-02

Abstract excerpt

Lowe syndrome (LS) is a rare X-linked monogenic disorder resulting from mutations in the OCRL1 gene that encodes a phosphatidylinositol 4,5-bisphosphate 5’ phosphatase enzyme. Patients with LS exhibit a range of neurological symptoms, including neurodevelopmental delays, hypotonia, febrile seizures, and behavioural abnormalities; however, the cellular and developmental origins of LS remain poorly understood. The...

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Literature Corpus work: 746f37f7-e1b2-568f-b9a6-779d73afcce6
DOI: 10.1101/2025.11.28.691107

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