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Highlighting the different facets of SMC1A truncating variants: Two patients with novel SMC1A pathogenic variants.

Autor: Amllal N; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat, University Mohammed V of Rabat, Rabat, Morocco.; Department of Medical Genetics, National Institute of Health, Rabat, Morocco., Lyahyai J; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat, University Mohammed V of Rabat, Rabat, Morocco., Afif L; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat, University Mohammed V of Rabat, Rabat, Morocco.; Department of Medical Genetics, National Institute of Health, Rabat, Morocco., Kriouile Y; Unit of Neuropediatrics and Neurometabolic Diseases, Faculty of Medicine and Pharmacy, Rabat Children's Hospital, Mohamed V University, Rabat, Morocco., Sefiani A; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat, University Mohammed V of Rabat, Rabat, Morocco.; Department of Medical Genetics, National Institute of Health, Rabat, Morocco., Elalaoui SC; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat, University Mohammed V of Rabat, Rabat, Morocco.; Medical Genetics Unit, Faculty of Medicine and Pharmacy of Rabat, Ibn Sina CHU, University Mohammed V, Rabat, Morocco.

Publikováno v: Epileptic disorders : international epilepsy journal with videotape [Epileptic Disord] 2024 Nov 08. Date of Electronic Publication: 2024 Nov 08.