"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".

Autor: Oshi MAM; Neurology Division, Gaafar Ibnauf Children's Emergency Hospital, Khartoum, Sudan., Alfaifi J; Department of Child Health, College of Medicine, University of Bisha, Bisha, Saudi Arabia., Alqahtani YAM; Department of Child Health, College of Medicine, King Khalid University, Abha, Kingdom of Saudi Arabia., Aljabri MF; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia., Kamal NM; Department of Pediatrics and Pediatric Hepatology, Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt., Althopaity J; Department of Medical Genetics, King Fahad Medical City, Riyadh, Saudi Arabia., Althobaiti KA; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia., Almalki AM; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia., Abosabie SAS; Faculty of Medicine, Julius-Maximilians-Universität Würzburg, Wurzburg, Bavaria, Germany., Abosabie SA; Faculty of Medicine, Charité Universitätsmedizin Berlin, Berlin, Germany., Sherbiny HS; Department of Child Health, College of Medicine, University of Bisha, Bisha, Saudi Arabia.; Department of pediatrics, Faculty of Medicine, Zagazig University, Zagazig, Egypt., Almanjoomi SK; Alhada Armed Forces Hospital, Taif, Kingdom of Saudi Arabia., Abdallah EAA; Department of Pediatrics and Pediatric Hepatology, Kasr Alainy Faculty of Medicine, Cairo University, Cairo, Egypt.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2282. Date of Electronic Publication: 2023 Oct 06.