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Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features.
Soto-Insuga, Víctor; López, Rosa Guerrero; Losada-Del Pozo, Rebeca; Rodrigo-Moreno, María; Cayuelas, Elena Martínez; Giráldez, Beatriz G; Díaz-Gómez, Ester; Sánchez-Martín, Gema; García, Laura Olivié; Serratosa, José M.
Afiliação
  • Soto-Insuga V; Department of Pediatrics, Hospital Universitario Fundación Jiménez Díaz, UAM, Madrid, Spain. Electronic address: victorsotoinsuga@gmail.com.
  • López RG; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; Neurology Lab and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain.
  • Losada-Del Pozo R; Department of Pediatrics, Hospital Universitario Fundación Jiménez Díaz, UAM, Madrid, Spain.
  • Rodrigo-Moreno M; Department of Pediatrics, Hospital Universitario Fundación Jiménez Díaz, UAM, Madrid, Spain.
  • Cayuelas EM; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Giráldez BG; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; Neurology Lab and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain.
  • Díaz-Gómez E; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain.
  • Sánchez-Martín G; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; Neurology Lab and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain.
  • García LO; Neurology Lab and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain.
  • Serratosa JM; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; Neurology Lab and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain.
Epilepsy Res ; 154: 39-41, 2019 08.
Article em En | MEDLINE | ID: mdl-31035243
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Proteínas de Transporte de Monossacarídeos / Erros Inatos do Metabolismo dos Carboidratos / Epilepsia Tipo Ausência / Transportador de Glucose Tipo 1 Tipo de estudo: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Epilepsy Res Assunto da revista: CEREBRO / NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Proteínas de Transporte de Monossacarídeos / Erros Inatos do Metabolismo dos Carboidratos / Epilepsia Tipo Ausência / Transportador de Glucose Tipo 1 Tipo de estudo: Clinical_trials / Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: Epilepsy Res Assunto da revista: CEREBRO / NEUROLOGIA Ano de publicação: 2019 Tipo de documento: Article