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Impressive efficacy of the ketogenic diet in a KCNQ2 encephalopathy infant: a case report and exhaustive literature review

BACKGROUND: KCNQ2 encephalopathy is characterized by neonatal-onset epilepsy and developmental impairment, due to “de novo” KCNQ2 pathogenic variants. According to literature data, sodium channel blocking agents appear to be the best treatment options for the disease. Reports describing the use of k...

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Detalles Bibliográficos
Autores principales: Falsaperla, Raffaele, Marino, Simona Domenica, Salomone, Giulia, Madia, Francesca, Marino, Silvia, Tardino, Lucia Giovanna, Scalia, Bruna, Ruggieri, Martino
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9986782/
https://www.ncbi.nlm.nih.gov/pubmed/36891363
http://dx.doi.org/10.21037/tp-22-258