Clinico‐radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Human MutationEarly View RESEARCH ARTICLEOpen Access Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency Marcello Scala, Marcello Scala orcid.org/0000-0003-2194-7239 Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy UCL Queen Square Institute of Neurology, University College London, London, UKSearch for more papers by this authorSaskia B. Wortmann, Saskia B. Wortmann orcid.org/0000-0002-1968-8103 Amalia Children's Hospital, Radboud University Nijmegen, Nijmegen, The Netherlands University Children's Hospital, Paracelsus Medical University, Salzburg, AustriaSearch for more papers by this authorNamik Kaya, Namik Kaya orcid.org/0000-0001-8912-7507 Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaSearch for more papers by this authorMenno D. Stellingwerff, Menno D. Stellingwerff Department of Child Neurology, Emma Children's Hospital, Amsterdam Leukodystrophy Center, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The NetherlandsSearch for more papers by this authorAngela Pistorio, Angela Pistorio Clinical Epidemiology and Biostatistics Unit, IRCCS Istituto Giannina Gaslini, Genoa, ItalySearch for more papers by this authorEmma Glamuzina, Emma Glamuzina Adult and Paediatric National Metabolic Service, Starship Children's Hospital, Auckland, New ZealandSearch for more papers by this authorClara D. van Karnebeek, Clara D. van Karnebeek Departments of Pediatrics and Clinical Genetics, Academic Medical Centre, Amsterdam, The NetherlandsSearch for more papers by this authorCristina Skrypnyk, Cristina Skrypnyk Department of Molecular Medicine, Al-Jawhara Centre for Molecular Medicine, Arabian Gulf University, Manama, Kingdom of BahrainSearch for more papers by this authorKatarzyna Iwanicka-Pronicka, Katarzyna Iwanicka-Pronicka Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland Department of Audiology and Phoniatrics, The Children's Memorial Health Institute, Warsaw, PolandSearch for more papers by this authorDorota Piekutowska-Abramczuk, Dorota Piekutowska-Abramczuk Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, PolandSearch for more papers by this authorElżbieta Ciara, Elżbieta Ciara Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, PolandSearch for more papers by this authorFrederic Tort, Frederic Tort Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica iGenètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, SpainSearch for more papers by this authorBeth Sheidley, Beth Sheidley Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusettes, USA Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusettes, USASearch for more papers by this authorAnnapurna Poduri, Annapurna Poduri Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusettes, USA Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusettes, USA Department of Neurology, Harvard Medical School, Boston, Massachusettes, USASearch for more papers by this authorParul Jayakar, Parul Jayakar Nicklaus Children's Hospital, Miami, Florida, USASearch for more papers by this authorAnuj Jayakar, Anuj Jayakar Nicklaus Children's Hospital, Miami, Florida, USASearch for more papers by this authorJariya Upadia, Jariya Upadia Tulane University School of Medicine, New Orleans, Louisiana, USASearch for more papers by this authorNicolette Walano, Nicolette Walano Tulane University School of Medicine, New Orleans, Louisiana, USASearch for more papers by this authorTobias B. Haack, Tobias B. Haack Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, GermanySearch for more papers by this authorHolger Prokisch, Holger Prokisch Institute of Human Genetics, Technische Universität München, Munich, Germany Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, GermanySearch for more papers by this authorHesham Aldhalaan, Hesham Aldhalaan Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaSearch for more papers by this authorEhsan G. Karimiani, Ehsan G. Karimiani Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London, UK Innovative Medical Research Center, Islamic Azad University, Mashhad Branch, Mashhad, IranSearch for more papers by this authorYilmaz Yildiz, Yilmaz Yildiz Pediatric Metabolic Diseases Clinic, Dr. Sami Ulus Training and Research Hospital for Maternity and Children, Ankara, TurkeySearch for more papers by this authorAhmet C. Ceylan, Ahmet C. Ceylan Department of Medical Genetics, Ankara City Hospital, Ankara, TurkeySearch for more papers by this authorTeresa Santiago-Sim, Teresa Santiago-Sim GeneDx, Gaithersburg, Maryland, USASearch for more papers by this authorAmy Dameron, Amy Dameron GeneDx, Gaithersburg, Maryland, USASearch for more papers by this authorHui Yang, Hui Yang GeneDx, Gaithersburg, Maryland, USASearch for more papers by this authorMehran B. Toosi, Mehran B. Toosi Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, IranSearch for more papers by this authorFarah Ashrafzadeh, Farah Ashrafzadeh Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, IranSearch for more papers by this authorJavad Akhondian, Javad Akhondian Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, IranSearch for more papers by this authorShima Imannezhad, Shima Imannezhad Department of Pediatric Diseases, Mashhad University of Medical Sciences, Mashhad, IranSearch for more papers by this authorHanieh S. Mirzadeh, Hanieh S. Mirzadeh Department of Pediatric Diseases, Mashhad University of Medical Sciences, Mashhad, IranSearch for more papers by this authorShazia Maqbool, Shazia Maqbool Development and Behavioral Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, PakistanSearch for more papers by this authorAisha Farid, Aisha Farid Development and Behavioral Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, PakistanSearch for more papers by this authorMohamed A. Al-Muhaizea, Mohamed A. Al-Muhaizea Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaSearch for more papers by this authorMeznah O. Alshwameen, Meznah O. Alshwameen Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaSearch for more papers by this authorLama Aldowsari, Lama Aldowsari Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaSearch for more papers by this authorMaysoon Alsagob, Maysoon Alsagob Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaSearch for more papers by this authorAshwaq Alyousef, Ashwaq Alyousef Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaSearch for more papers by this authorRawan AlMass, Rawan AlMass Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaSearch for more papers by this authorAljouhra AlHargan, Aljouhra AlHargan Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaSearch for more papers by this authorAli H. Alwadei, Ali H. Alwadei Neurosciences Department, King Fahad Medical City, Riyadh, Saudi ArabiaSearch for more papers by this authorMaha M. AlRasheed, Maha M. AlRasheed Department of Clinical Pharmacy, King Saud University, Riyadh, Saudi ArabiaSearch for more papers by this authorDilek Colak, Dilek Colak Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Kingdom of Saudi ArabiaSearch for more papers by this authorHanan Alqudairy, Hanan Alqudairy Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaSearch for more papers by this authorSameena Khan, Sameena Khan Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi ArabiaSearch for more papers by this authorMatthew A. Lines, Matthew A. Lines Medical Genetics, Department of Pediatrics, Alberta Children's Hospital, Calgary, CanadaSearch for more papers by this authorM. Ángeles García Cazorla, M. Ángeles García Cazorla Inborn Errors of Metabolism Unit, Hospital Sant Joan de Déu, Barcelona, SpainSearch for more papers by this authorAntonia Ribes, Antonia Ribes orcid.org/0000-0002-2249-246X Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica iGenètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, SpainSearch for more papers by this authorEva Morava, Eva Morava Department of Clinical Genomics, Laboratory of Medicine and Pathology, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USASearch for more papers by this authorFarah Bibi, Farah Bibi Institute of Biochemistry and Biotechnology, Pir Mehar Ali Shah Arid Agriculture University, Rawalpindi, PakistanSearch for more papers by this authorShahzad Haider, Shahzad Haider Izzat Ali S

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