Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders
Daniel G. Calame, Jovi Huixin Wong, Puravi Panda, Dat Nguyen, Nancy C.P. Leong, Riccardo Sangermano, Sohil G Patankar, Mohamed S. Abdel‐Hamid, Lama AlAbdi, Sylvia Safwat, Kyle P. Flannery, Zain Dardas, Jawid M. Fatih, Chaya Nautiyal Murali, Varun Kannan, , Long Nam Nguyen
The paper identifies biallelic FLVCR1 variants causing a range of neurodevelopmental and neurodegenerative disorders, linking them to choline and ethanolamine transport dysfunction.
medRxiv · Feb 9, 2024 · PreprintGenetic & Genomic Medicine