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Current Overview of CDKL-5 Deficiency Disorder Treatment.
Dell'Isola, Giovanni Battista; Portwood, Katherin Elizabeth; Consing, Kirsten; Fattorusso, Antonella; Bartocci, Arnaldo; Ferrara, Pietro; Di Cara, Giuseppe; Verrotti, Alberto; Lodolo, Mauro.
Afiliação
  • Dell'Isola GB; Department of Pediatrics, University of Perugia, 06129 Perugia, Italy.
  • Portwood KE; Shands Children's Hospital, Department of Child Neurology, University of Florida, Gainesville, FL 32608, USA.
  • Consing K; Shands Children's Hospital, Department of Child Neurology, University of Florida, Gainesville, FL 32608, USA.
  • Fattorusso A; Department of Pediatrics, University of Perugia, 06129 Perugia, Italy.
  • Bartocci A; Neurophysipathology Service, Villa Margherita, 01027 Montefiascone, Italy.
  • Ferrara P; Unit of Pediatrics, Campus Bio-Medico University, 00128 Rome, Italy.
  • Di Cara G; Department of Pediatrics, University of Perugia, 06129 Perugia, Italy.
  • Verrotti A; Department of Pediatrics, University of Perugia, 06129 Perugia, Italy.
  • Lodolo M; Shands Children's Hospital, Department of Child Neurology, University of Florida, Gainesville, FL 32608, USA.
Pediatr Rep ; 16(1): 21-25, 2024 Jan 03.
Article em En | MEDLINE | ID: mdl-38251311
ABSTRACT
CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the presence of non-functional or absent CDKL5 protein, a serine-threonine kinase involved in neural maturation and synaptogenesis [...].
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Idioma: En Ano de publicação: 2024 Tipo de documento: Article