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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Scala, Marcello; Wortmann, Saskia B; Kaya, Namik; Stellingwerff, Menno D; Pistorio, Angela; Glamuzina, Emma; van Karnebeek, Clara D; Skrypnyk, Cristina; Iwanicka-Pronicka, Katarzyna; Piekutowska-Abramczuk, Dorota; Ciara, Elzbieta; Tort, Frederic; Sheidley, Beth; Poduri, Annapurna; Jayakar, Parul; Jayakar, Anuj; Upadia, Jariya; Walano, Nicolette; Haack, Tobias B; Prokisch, Holger; Aldhalaan, Hesham; Karimiani, Ehsan G; Yildiz, Yilmaz; Ceylan, Ahmet C; Santiago-Sim, Teresa; Dameron, Amy; Yang, Hui; Toosi, Mehran B; Ashrafzadeh, Farah; Akhondian, Javad; Imannezhad, Shima; Mirzadeh, Hanieh S; Maqbool, Shazia; Farid, Aisha; Al-Muhaizea, Mohamed A; Alshwameen, Meznah O; Aldowsari, Lama; Alsagob, Maysoon; Alyousef, Ashwaq; AlMass, Rawan; AlHargan, Aljouhra; Alwadei, Ali H; AlRasheed, Maha M; Colak, Dilek; Alqudairy, Hanan; Khan, Sameena; Lines, Matthew A; García Cazorla, M Ángeles; Ribes, Antonia; Morava, Eva.
Affiliation
  • Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università Degli Studi di Genova, Genoa, Italy.
  • Wortmann SB; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Kaya N; UCL Queen Square Institute of Neurology, University College London, London, UK.
  • Stellingwerff MD; Amalia Children's Hospital, Radboud University Nijmegen, Nijmegen, The Netherlands.
  • Pistorio A; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria.
  • Glamuzina E; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • van Karnebeek CD; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Skrypnyk C; Department of Child Neurology, Emma Children's Hospital, Amsterdam Leukodystrophy Center, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands.
  • Iwanicka-Pronicka K; Clinical Epidemiology and Biostatistics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
  • Piekutowska-Abramczuk D; Adult and Paediatric National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand.
  • Ciara E; Departments of Pediatrics and Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
  • Tort F; Department of Molecular Medicine, Al-Jawhara Centre for Molecular Medicine, Arabian Gulf University, Manama, Kingdom of Bahrain.
  • Sheidley B; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Poduri A; Department of Audiology and Phoniatrics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Jayakar P; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Jayakar A; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.
  • Upadia J; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica iGenètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain.
  • Walano N; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusettes, USA.
  • Haack TB; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusettes, USA.
  • Prokisch H; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusettes, USA.
  • Aldhalaan H; Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children's Hospital, Boston, Massachusettes, USA.
  • Karimiani EG; Department of Neurology, Harvard Medical School, Boston, Massachusettes, USA.
  • Yildiz Y; Nicklaus Children's Hospital, Miami, Florida, USA.
  • Ceylan AC; Nicklaus Children's Hospital, Miami, Florida, USA.
  • Santiago-Sim T; Tulane University School of Medicine, New Orleans, Louisiana, USA.
  • Dameron A; Tulane University School of Medicine, New Orleans, Louisiana, USA.
  • Yang H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
  • Toosi MB; Institute of Human Genetics, Technische Universität München, Munich, Germany.
  • Ashrafzadeh F; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
  • Akhondian J; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Imannezhad S; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.
  • Mirzadeh HS; Molecular and Clinical Sciences Institute, St. George's University of London, Cranmer Terrace, London, UK.
  • Maqbool S; Innovative Medical Research Center, Islamic Azad University, Mashhad Branch, Mashhad, Iran.
  • Farid A; Pediatric Metabolic Diseases Clinic, Dr. Sami Ulus Training and Research Hospital for Maternity and Children, Ankara, Turkey.
  • Al-Muhaizea MA; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey.
  • Alshwameen MO; GeneDx, Gaithersburg, Maryland, USA.
  • Aldowsari L; GeneDx, Gaithersburg, Maryland, USA.
  • Alsagob M; GeneDx, Gaithersburg, Maryland, USA.
  • Alyousef A; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
  • AlMass R; Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran.
  • AlHargan A; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Alwadei AH; Department of Pediatric Diseases, Mashhad University of Medical Sciences, Mashhad, Iran.
  • AlRasheed MM; Department of Pediatric Diseases, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Colak D; Development and Behavioral Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan.
  • Alqudairy H; Development and Behavioral Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan.
  • Khan S; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Lines MA; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • García Cazorla MÁ; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Ribes A; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
  • Morava E; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
Hum Mutat ; 43(3): 403-419, 2022 03.
Article in En | MEDLINE | ID: mdl-34989426
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Full text: 1 Database: MEDLINE Main subject: Pyrophosphatases / Epilepsy, Generalized / Microcephaly Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Italy
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Full text: 1 Database: MEDLINE Main subject: Pyrophosphatases / Epilepsy, Generalized / Microcephaly Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Italy