Bi-allelic PRRT2variants may predispose to Self-limited Familial Infantile Epilepsy

Autor: Koko, Mahmoud, Elseed, Maha A., Mohammed, Inaam N., Hamed, Ahlam A., Abd Allah, Amal S. I., Yahia, Ashraf, Siddig, Rayan A., Altmüller, Janine, Toliat, Mohammad Reza, Elmahdi, Esra O., Amin, Mutaz, Ahmed, Elhami A., Eltazi, Isra Z. M., Elmugadam, Fatima A., Abdelgadir, Wasma A., Eltaraifee, Esraa, Ibrahim, Mohamed O. M., Ali, Nabila M. H., Malik, Hiba M., Babai, Arwa M., Bakhit, Yousuf H., Nürnberg, Peter, Ibrahim, Muntaser E., Salih, Mustafa A., Schubert, Julian, Elsayed, Liena E. O., Lerche, Holger

Publikováno v: European Journal of Human Genetics: EJHG; October 2024, Vol. 32 Issue: 10 p1338-1342, 5p

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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.