MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.
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| Title: | MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy. |
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| Authors: | Morsy H; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt. Electronic address: heba.morsy@ucl.ac.uk., Kim H; Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu 42988, Korea; Center for Synapse Diversity and Specificity, DGIST, Daegu 42988, Korea., Jang G; Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu 42988, Korea; Center for Synapse Diversity and Specificity, DGIST, Daegu 42988, Korea., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy., Abdelrazek IM; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Hussien H; Kuwait Hospital, Sabah Al-Salem, Block1, Kuwait., Self E; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK., Albaradie RS; King Fahd Specialist Hospital, Dammam, Saudi Arabia., Bakur K; Lifera Omics, Riyadh 13519, Saudi Arabia., Firoozfar Z; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK; Palindrome, Isfahan, Iran., Efthymiou S; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK., Noureldeen MM; Department of Paediatrics, Faculty of Medicine, Beni-Suef University, Beni-Suef, Egypt., Nabil A; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Alvi JR; Department of Paediatric Neurology, Institute of Child Health, Children's Hospital Lahore, Lahore, Pakistan., Molavi F; Dr. ALibakhshi Medical Genetics Laboratory, Kermanshah, Iran; Department of Animal Biology, Faculty of Biological Sciences, Kharazmi University, Tehran, Iran., Alavi S; Palindrome, Isfahan, Iran; Department of Neurodegenerative Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK., Alibakhshi R; Dr. ALibakhshi Medical Genetics Laboratory, Kermanshah, Iran; Department of Biochemistry, Kermanshah University of Medical Sciences, Kermanshah, Iran., Topcu V; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Mancilar H; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Uctepe E; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye., Yesilyurt A; Acibadem Labgen Genetic Diagnosis Center, Istanbul, Türkiye; Acibadem Maslak Hospital, Istanbul, Türkiye., Aldhalaan H; Neuroscience Centre of Excellence, KFSH&RC, Riyadh, Saudi Arabia., Showki Tous ES; Neuroscience Centre of Excellence, KFSH&RC, Riyadh, Saudi Arabia., Alhaddad B; Lifera Omics, Riyadh 13519, Saudi Arabia., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Scardamaglia A; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK., Yépez VA; School of Computation, Information and Technology, Technical University of Munich, Munich, Germany., Gagneur J; School of Computation, Information and Technology, Technical University of Munich, Munich, Germany; Computational Health Center, Helmholtz Munich, Neuherberg, Germany; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich, Germany., Omar TI; Neurology Unit, Department of Paediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt., Abd Elmaksoud M; Neurology Unit, Department of Paediatrics, Faculty of Medicine, Alexandria University, Alexandria, Egypt., Vandrovocova J; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK., Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Reilly MM; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK., Sultan T; Department of Paediatric Neurology, Institute of Child Health, Children's Hospital Lahore, Lahore, Pakistan., Alkuraya FS; Lifera Omics, Riyadh 13519, Saudi Arabia; Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla CA 92093, USA., Um JW; Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu 42988, Korea; Center for Synapse Diversity and Specificity, DGIST, Daegu 42988, Korea., Houlden H; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK., Ko J; Department of Brain Sciences, Daegu Gyeongbuk Institute of Science and Technology (DGIST), Daegu 42988, Korea; Center for Synapse Diversity and Specificity, DGIST, Daegu 42988, Korea. Electronic address: jaewonko@dgist.ac.kr., Maroofian R; Department of Neuromuscular Diseases, UCL Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK. |
| Source: | American journal of human genetics [Am J Hum Genet] 2026 Feb 05; Vol. 113 (2), pp. 380-391. Date of Electronic Publication: 2026 Jan 21. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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