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Screening of SLC2A1 in a large cohort of patients suspected for Glut1 deficiency syndrome: identification of novel variants and associated phenotypes.
Castellotti, Barbara; Ragona, Francesca; Freri, Elena; Solazzi, Roberta; Ciardullo, Stefano; Tricomi, Giovanni; Venerando, Anna; Salis, Barbara; Canafoglia, Laura; Villani, Flavio; Franceschetti, Silvana; Nardocci, Nardo; Gellera, Cinzia; DiFrancesco, Jacopo C; Granata, Tiziana.
Afiliação
  • Castellotti B; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Ragona F; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Freri E; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Solazzi R; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Ciardullo S; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Tricomi G; Unit of Infancy and Adolescence Neuropsychiatry, Azienda Unità Sanitaria Locale della Romagna, Cesena, Italy.
  • Venerando A; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Salis B; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Canafoglia L; Clinical Neurophysiology and Epilepsy Center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Villani F; Clinical and Experimental Epileptology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Franceschetti S; Clinical Neurophysiology and Epilepsy Center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Nardocci N; Department of Pediatric Neuroscience, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • Gellera C; Unit of Genetics of Neurodegenerative and Metabolic Diseases, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
  • DiFrancesco JC; Clinical Neurophysiology and Epilepsy Center, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy. jacopo.difrancesco@gmail.com.
  • Granata T; Department of Neurology, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy. jacopo.difrancesco@gmail.com.
J Neurol ; 266(6): 1439-1448, 2019 Jun.
Article em En | MEDLINE | ID: mdl-30895386
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte de Monossacarídeos / Erros Inatos do Metabolismo dos Carboidratos / Deficiências do Desenvolvimento / Coreia / Epilepsia / Transportador de Glucose Tipo 1 / Deficiência Intelectual / Microcefalia Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas de Transporte de Monossacarídeos / Erros Inatos do Metabolismo dos Carboidratos / Deficiências do Desenvolvimento / Coreia / Epilepsia / Transportador de Glucose Tipo 1 / Deficiência Intelectual / Microcefalia Tipo de estudo: Diagnostic_studies / Etiology_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article