Current Overview of CDKL-5 Deficiency Disorder Treatment

Giovanni Battista Dell’Isola; Katherin Elizabeth Portwood; Kirsten Consing; Antonella Fattorusso; Arnaldo Bartocci; Pietro Ferrara; Giuseppe Di Cara; Alberto Verrotti; Mauro Lodolo

doi:10.3390/pediatric16010002

Pediatric Reports (Jan 2024)

Current Overview of CDKL-5 Deficiency Disorder Treatment

Giovanni Battista Dell’Isola,
Katherin Elizabeth Portwood,
Kirsten Consing,
Antonella Fattorusso,
Arnaldo Bartocci,
Pietro Ferrara,
Giuseppe Di Cara,
Alberto Verrotti,
Mauro Lodolo

Affiliations

Giovanni Battista Dell’Isola: Department of Pediatrics, University of Perugia, 06129 Perugia, Italy
Katherin Elizabeth Portwood: Shands Children’s Hospital, Department of Child Neurology, University of Florida, Gainesville, FL 32608, USA
Kirsten Consing: Shands Children’s Hospital, Department of Child Neurology, University of Florida, Gainesville, FL 32608, USA
Antonella Fattorusso: Department of Pediatrics, University of Perugia, 06129 Perugia, Italy
Arnaldo Bartocci: Neurophysipathology Service, Villa Margherita, 01027 Montefiascone, Italy
Pietro Ferrara: Unit of Pediatrics, Campus Bio-Medico University, 00128 Rome, Italy
Giuseppe Di Cara: Department of Pediatrics, University of Perugia, 06129 Perugia, Italy
Alberto Verrotti: Department of Pediatrics, University of Perugia, 06129 Perugia, Italy
Mauro Lodolo: Shands Children’s Hospital, Department of Child Neurology, University of Florida, Gainesville, FL 32608, USA

DOI: https://doi.org/10.3390/pediatric16010002
Journal volume & issue: Vol. 16, no. 1
pp. 21 – 25

Abstract

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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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Published in Pediatric Reports

ISSN: 2036-749X (Print); 2036-7503 (Online)
Publisher: MDPI AG
Country of publisher: Switzerland
LCC subjects: Medicine: Pediatrics
Website: https://www.mdpi.com/journal/pediatrrep

About the journal

Abstract

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