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

Fattal-Valevski, Aviva; Eliyahu, Hila; Fraenkel, NItai D; Elmaliach, Ganit; Hausman-Kedem, Moran; Shaag, Avraham; Mandel, Dror; Pines, Ophry; Elpeleg, Orly.

Afiliação

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 em En | MEDLINE | ID: mdl-28058510

Assuntos

Encefalopatias/genética; Isocitrato Desidrogenase/genética; Mutação de Sentido Incorreto; Fatores Etários; Substituição de Aminoácidos; Histidina/genética; Homozigoto; Humanos; Recém-Nascido; Doenças do Recém-Nascido/genética; Isocitrato Desidrogenase/química; Masculino; Doenças Mitocondriais/genética; Prolina/genética; Subunidades Proteicas/genética; Índice de Gravidade de Doença

Palavras-chave

Epilepsy; Mitochondrial encephalopathy; Tricarboxylic acid cycle

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Mutação de Sentido Incorreto / Isocitrato Desidrogenase Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Humans / Male / Newborn Idioma: En Revista: Neurogenetics Assunto da revista: GENETICA / NEUROLOGIA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: Israel

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