A rare case of pituitary dysfunction with Moyamoya disease.

Autor: Aljthalin RA; From the Department of Neurology (Aljthalin, Albalawi). PrinceSultan Military Medical City, Department of Pediatric Neurology (Alwadei), National Neuroscience Institute, King Fahad Medical City, Riyadh, and from the College of Medicine (Aljthalin), Majmmah University, Majmmah, Kingdom of Saudia Arabia., Albalawi RA; From the Department of Neurology (Aljthalin, Albalawi). PrinceSultan Military Medical City, Department of Pediatric Neurology (Alwadei), National Neuroscience Institute, King Fahad Medical City, Riyadh, and from the College of Medicine (Aljthalin), Majmmah University, Majmmah, Kingdom of Saudia Arabia., Alwadei AH; From the Department of Neurology (Aljthalin, Albalawi). PrinceSultan Military Medical City, Department of Pediatric Neurology (Alwadei), National Neuroscience Institute, King Fahad Medical City, Riyadh, and from the College of Medicine (Aljthalin), Majmmah University, Majmmah, Kingdom of Saudia Arabia., Aljthalin AA; From the Department of Neurology (Aljthalin, Albalawi). PrinceSultan Military Medical City, Department of Pediatric Neurology (Alwadei), National Neuroscience Institute, King Fahad Medical City, Riyadh, and from the College of Medicine (Aljthalin), Majmmah University, Majmmah, Kingdom of Saudia Arabia.

Publikováno v: Neurosciences (Riyadh, Saudi Arabia) [Neurosciences (Riyadh)] 2024 Oct; Vol. 29 (4), pp. 288-291.

Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia.

Autor: Kentab AY; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia., Alsalloum Y; Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia., Labani M; Pediatric Intensive Care Unit, Department of Pediatrics, King Khalid University Hospital, King Saud University Medical City, Riyadh, Saudi Arabia., Hudairi A; Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia., Hamad MH; Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia., Jamjoom DZ; Department of Radiology and Medical Imaging, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Alwadei AH; Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia.; Pediatric Neurology Department, National Neuroscience Institute, King Fahd Medical City, Riyadh, Saudi Arabia., Alhammad RM; Department of Internal Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia., Bashiri FA; Division of Pediatric Neurology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia.

Publikováno v: Frontiers in pediatrics [Front Pediatr] 2024 Apr 30; Vol. 12, pp. 1377515. Date of Electronic Publication: 2024 Apr 30 (Print Publication: 2024).

SHQ1-associated neurodevelopmental disorder: Report of the first homozygous variant in unrelated patients and review of the literature.

Autor: AlHargan A; Translational Genomics Department, MBC: 26, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Saudi Arabia.; Department of Zoology, P.O. Box. 145111, College of Sciences, King Saud University, Riyadh, 11362, Saudi Arabia., AlMuhaizea MA; Neuroscience Centre, MBC: 76, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia.; College of Medicine, AlFaisal University, Riyadh, Saudi Arabia., Almass R; Department of Medical Genomics, MBC: 75, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia., Alwadei AH; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia., Daghestani M; Department of Zoology, P.O. Box. 145111, College of Sciences, King Saud University, Riyadh, 11362, Saudi Arabia., Arold ST; Bioscience Program, Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Kingdom of Saudi Arabia.; Computational Biology Research Center, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia.; Centre de Biologie Structurale (CBS), INSERM, CNRS, Université de Montpellier, F-34090, Montpellier, France., Kaya N; Translational Genomics Department, MBC: 26, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, 11211, Saudi Arabia. nkaya@kfshrc.edu.sa.

Publikováno v: Human genome variation [Hum Genome Var] 2023 Feb 22; Vol. 10 (1), pp. 7. Date of Electronic Publication: 2023 Feb 22.

Childhood absence epilepsy: Electro-clinical manifestations, treatment options, and outcome in a tertiary educational center.

Autor: Bashiri FA; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Division of Pediatric Neurology, Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia., Al Dosari A; Division of Pediatric Neurology, Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia., Hamad MH; Division of Pediatric Neurology, Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia., Kentab AY; Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.; Division of Pediatric Neurology, Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia., Alwadei AH; Division of Pediatric Neurology, Department of Pediatrics, King Saud University Medical City, Riyadh, Saudi Arabia.; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.

Publikováno v: International journal of pediatrics & adolescent medicine [Int J Pediatr Adolesc Med] 2022 Jun; Vol. 9 (2), pp. 131-135. Date of Electronic Publication: 2021 Nov 26.

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

Autor: Scala M; 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, UK., Wortmann SB; Amalia Children's Hospital, Radboud University Nijmegen, Nijmegen, The Netherlands.; University Children's Hospital, Paracelsus Medical University, Salzburg, Austria., Kaya N; 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 Arabia., Stellingwerff MD; Department of Child Neurology, Emma Children's Hospital, Amsterdam Leukodystrophy Center, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands., Pistorio A; Clinical Epidemiology and Biostatistics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Glamuzina E; Adult and Paediatric National Metabolic Service, Starship Children's Hospital, Auckland, New Zealand., van Karnebeek CD; Departments of Pediatrics and Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands., Skrypnyk C; Department of Molecular Medicine, Al-Jawhara Centre for Molecular Medicine, Arabian Gulf University, Manama, Kingdom of Bahrain., Iwanicka-Pronicka K; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland.; Department of Audiology and Phoniatrics, The Children's Memorial Health Institute, Warsaw, Poland., Piekutowska-Abramczuk D; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., Ciara E; Department of Medical Genetics, The Children's Memorial Health Institute, Warsaw, Poland., Tort F; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica iGenètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Sheidley B; 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., Poduri A; 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, USA., Jayakar P; Nicklaus Children's Hospital, Miami, Florida, USA., Jayakar A; Nicklaus Children's Hospital, Miami, Florida, USA., Upadia J; Tulane University School of Medicine, New Orleans, Louisiana, USA., Walano N; Tulane University School of Medicine, New Orleans, Louisiana, USA., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Prokisch H; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany., Aldhalaan H; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Karimiani EG; 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, Iran., Yildiz Y; Pediatric Metabolic Diseases Clinic, Dr. Sami Ulus Training and Research Hospital for Maternity and Children, Ankara, Turkey., Ceylan AC; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey., Santiago-Sim T; GeneDx, Gaithersburg, Maryland, USA., Dameron A; GeneDx, Gaithersburg, Maryland, USA., Yang H; GeneDx, Gaithersburg, Maryland, USA., Toosi MB; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Ashrafzadeh F; Department of Pediatrics, Mashhad University of Medical Sciences, Mashhad, Iran., Akhondian J; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Imannezhad S; Department of Pediatric Diseases, Mashhad University of Medical Sciences, Mashhad, Iran., Mirzadeh HS; Department of Pediatric Diseases, Mashhad University of Medical Sciences, Mashhad, Iran., Maqbool S; Development and Behavioral Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan., Farid A; Development and Behavioral Pediatrics Department, Institute of Child Health and The Children Hospital, Lahore, Pakistan., Al-Muhaizea MA; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Alshwameen MO; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Aldowsari L; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Alsagob M; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Alyousef A; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., AlMass R; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., AlHargan A; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Alwadei AH; Neurosciences Department, King Fahad Medical City, Riyadh, Saudi Arabia., AlRasheed MM; Department of Clinical Pharmacy, King Saud University, Riyadh, Saudi Arabia., Colak D; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Kingdom of Saudi Arabia., Alqudairy H; Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Khan S; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Lines MA; Medical Genetics, Department of Pediatrics, Alberta Children's Hospital, Calgary, Canada., García Cazorla MÁ; Inborn Errors of Metabolism Unit, Hospital Sant Joan de Déu, Barcelona, Spain., Ribes A; Secció d'Errors Congènits del Metabolisme-IBC, Servei de Bioquímica iGenètica Molecular, Hospital Clínic, IDIBAPS, CIBERER, Barcelona, Spain., Morava E; Department of Clinical Genomics, Laboratory of Medicine and Pathology, Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA., Bibi F; Institute of Biochemistry and Biotechnology, Pir Mehar Ali Shah Arid Agriculture University, Rawalpindi, Pakistan., Haider S; Izzat Ali Shah Hospital, Lalarukh Wah Cantt, Rawalpindi, Pakistan., Ferla MP; NIHR Oxford BRC Genomic Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Taylor JC; NIHR Oxford BRC Genomic Medicine, Wellcome Centre for Human Genetics, University of Oxford, Oxford, UK., Alsaif HS; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Firdous A; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Hashem M; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia., Shashkin C; International University of Postgraduate Education, Almaty, Kazakhstan., Koneev K; Department of Neurology and Neurosurgery, Asfendiyarov Kazakh National Medical University, Almaty, Kazakhstan., Kaiyrzhanov R; UCL Queen Square Institute of Neurology, University College London, London, UK., Efthymiou S; UCL Queen Square Institute of Neurology, University College London, London, UK., Genomics QS; UCL Queen Square Institute of Neurology, University College London, London, UK., Schmitt-Mechelke T; Department of Neuropaediatrics, Children's Hospital, Cantonal Hospital, Lucerne, Switzerland., Ziegler A; Zentrum für Kinder und Jugendmedizin Heidelberg, Sektion Neuropädiatrie und Stoffwechselmedizin, Universitätsklinikum Heidelberg, Heidelberg, Germany., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Striano P; 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., Alkuraya FS; Department of Translational Genomics, Center for Genomics Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, Alfaisal University, Riyadh, Saudi Arabia., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Gleeson JG; Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, California, USA., Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Bierau J; Laboratory of Biochemical Genetics, Department of Clinical Genetics, Maastricht University Hospital, Maastricht, The Netherlands., van der Knaap MS; Department of Child Neurology, Emma Children's Hospital, Amsterdam Leukodystrophy Center, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, Amsterdam, The Netherlands.; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research, VU University, Amsterdam, The Netherlands., Maroofian R; UCL Queen Square Institute of Neurology, University College London, London, UK., Houlden H; UCL Queen Square Institute of Neurology, University College London, London, UK.

Publikováno v: Human mutation [Hum Mutat] 2022 Mar; Vol. 43 (3), pp. 403-419. Date of Electronic Publication: 2022 Jan 12.