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A Novel WAC Loss of Function Mutation in an Individual Presenting with Encephalopathy Related to Status Epilepticus during Sleep (ESES).
Leonardi, Emanuela; Bellini, Mariagrazia; Aspromonte, Maria C; Polli, Roberta; Mercante, Anna; Ciaccio, Claudia; Granocchio, Elisa; Bettella, Elisa; Donati, Ilaria; Cainelli, Elisa; Boni, Stefania; Sartori, Stefano; Pantaleoni, Chiara; Boniver, Clementina; Murgia, Alessandra.
Afiliação
  • Leonardi E; Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.
  • Bellini M; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, 35127 Padova, Italy.
  • Aspromonte MC; Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.
  • Polli R; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, 35127 Padova, Italy.
  • Mercante A; Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.
  • Ciaccio C; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, 35127 Padova, Italy.
  • Granocchio E; Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.
  • Bettella E; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, 35127 Padova, Italy.
  • Donati I; Pediatric Neurology and Neurophysiology Unit, Department of Women's and Children's Health, University l of Padova, 35128 Padua, Italy.
  • Cainelli E; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
  • Boni S; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
  • Sartori S; Molecular Genetics of Neurodevelopment, Department of Women's and Children's Health, University of Padova, 35128 Padova, Italy.
  • Pantaleoni C; Fondazione Istituto di Ricerca Pediatrica (IRP), Città della Speranza, 35127 Padova, Italy.
  • Boniver C; Unit of Medical Genetics, AUSL Romagna, 47522 Cesena, Italy.
  • Murgia A; Department of Medical Sciences, University of Ferrara, 44100 Ferrara, Italy.
Genes (Basel) ; 11(3)2020 03 24.
Article em En | MEDLINE | ID: mdl-32214004
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Fases do Sono / Estado Epiléptico / Encefalopatias / Proteínas Adaptadoras de Transdução de Sinal Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Genes (Basel) Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Itália
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Fases do Sono / Estado Epiléptico / Encefalopatias / Proteínas Adaptadoras de Transdução de Sinal Tipo de estudo: Prognostic_studies Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Genes (Basel) Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Itália