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Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|February 12, 2025
Phenotypic diversity in NAXE mutationsIsmail Solmaz, Dilek Yalnızoğlu, Ali Dursun, et al.Brain : a Journal of Neurology|June 2, 2025
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathwayYoko Hirano, Yuri Miyazaki, Daisuke Ishikawa, et al.American Journal of Human Genetics|March 26, 2026
Bi-allelic variants in OLA1 cause a neurodevelopmental disorder with joint hypermobilityLama Alabdi, Abdullah Sezer, Fatema Alzahrani, et al.Neuropediatrics|February 14, 2023
Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter StudyÇağatay Günay, Duygu Aykol, Özlem Özsoy, et al.American Journal of Human Genetics|November 19, 2025
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disabilityAriane Kröll-Hermi, Corinne Stoetzel, Christelle Etard, et al.Pageof 5