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Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy.
Fattal-Valevski, Aviva; Eliyahu, Hila; Fraenkel, NItai D; Elmaliach, Ganit; Hausman-Kedem, Moran; Shaag, Avraham; Mandel, Dror; Pines, Ophry; Elpeleg, Orly.
Affiliation
  • Fattal-Valevski A; Pediatric Neurology Unit, Dana-Dwek Children's Hospital, Tel Aviv Medical Center & Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Eliyahu H; Department of Microbiology Molecular Genetics, IMRIC, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Fraenkel ND; Department of Respiratory Rehabilitation, Alyn Hospital, Jerusalem, Israel.
  • Elmaliach G; Department of Microbiology Molecular Genetics, IMRIC, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
  • Hausman-Kedem M; Pediatric Neurology Unit, Dana-Dwek Children's Hospital, Tel Aviv Medical Center & Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Shaag A; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel.
  • Mandel D; Department of Neonatology, Lis Maternity Hospital, Tel Aviv Medical Center & Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Pines O; Department of Microbiology Molecular Genetics, IMRIC, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel. ophryp@ekmd.huji.ac.il.
  • Elpeleg O; Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel. Elpeleg@hadassah.org.il.
Neurogenetics ; 18(1): 57-61, 2017 01.
Article in En | MEDLINE | ID: mdl-28058510
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Full text: 1 Database: MEDLINE Main subject: Brain Diseases / Mutation, Missense / Isocitrate Dehydrogenase Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans / Male / Newborn Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2017 Type: Article Affiliation country: Israel
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Full text: 1 Database: MEDLINE Main subject: Brain Diseases / Mutation, Missense / Isocitrate Dehydrogenase Type of study: Prognostic_studies / Risk_factors_studies Limits: Humans / Male / Newborn Language: En Journal: Neurogenetics Journal subject: GENETICA / NEUROLOGIA Year: 2017 Type: Article Affiliation country: Israel