Publications by authors named "B Tabarki"
Advancing understanding and treatment of YWHAG-related developmental and epileptic encephalopathy.
Eur J Paediatr Neurol
November 2024
Background And Objectives: Noncentrosomal microtubules are essential cytoskeletal filaments that are important for neurite formation, axonal transport, and neuronal migration. They require stabilization by microtubule minus-end-targeting proteins including the CLASP family of molecules. To date, no human monogenic disorder has been associated with the gene.
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- Narcolepsy with cataplexy involves genetic and environmental factors, and a case series of five patients from two related families revealed a new genetic variant (HCRT c.17_18del) linked to this condition.
- The patients experienced severe cataplexy and narcolepsy symptoms from infancy, but many showed improvements or resolution of cataplexy symptoms over time.
- Genetic testing for HCRT mutations is recommended for specific narcolepsy groups, especially those with early symptoms, family history, or a strong presence of cataplexy.