Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.

Autor: Koko M; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Elseed MA; Department of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Mohammed IN; Department of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Hamed AA; Department of Pediatrics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Abd Allah ASI; Neurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Yahia A; Department of Biochemistry, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Siddig RA; Neurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany.; Berlin Institute of Health at Charité- Universitätsmedizin Berlin, Berlin, Germany.; Max Delbrück Center for Molecular Medicine, Berlin, Germany., Toliat MR; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Elmahdi EO; Neurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Amin M; Department of Biochemistry, Faculty of Medicine, Al-Neelain University, Khartoum, Sudan., Ahmed EA; UNESCO Chair on Bioethics, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Eltazi IZM; Department of Medicine, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Elmugadam FA; Neurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Abdelgadir WA; Department of Biochemistry and Molecular Biology, Faculty of Sciences and Technology, Al-Neelain University, Khartoum, Sudan., Eltaraifee E; Neurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Ibrahim MOM; Department of Biochemistry, Faculty of Medicine, Sudan University of Science and Technology, Khartoum, Sudan., Ali NMH; Neurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Malik HM; Neurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Babai AM; Neurogenetics Research Group, Faculty of Medicine, University of Khartoum, Khartoum, Sudan., Bakhit YH; Department of Neurology, Neurobiology Division, University Hospital Bonn, Bonn, Germany., Nürnberg P; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Ibrahim ME; Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, Khartoum, Sudan., Salih MA; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Consultant Pediatric Neurologist, Health Sector, King Abdulaziz City for Science and Technology (KACST), Riyadh, Saudi Arabia., Schubert J; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany., Elsayed LEO; Department of Basic Sciences, College of Medicine, Princess Nourah bint Abdulrahman University, P.O.Box 84428, Riyadh, 11671, Saudi Arabia. leelsayed@pnu.edu.sa., Lerche H; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Oct; Vol. 32 (10), pp. 1338-1342. Date of Electronic Publication: 2024 Feb 05.