Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are associated with great genetic heterogeneity, thus making sequential single-gene testing an impractical basis for diagnostic strategy. The advent of next-generation sequencing has increased the success rate of epi...

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Udgivet i:PLoS One
Main Authors: Ortega-Moreno, Laura, Giráldez, Beatriz G., Soto-Insuga, Victor, Losada-Del Pozo, Rebeca, Rodrigo-Moreno, María, Alarcón-Morcillo, Cristina, Sánchez-Martín, Gema, Díaz-Gómez, Esther, Guerrero-López, Rosa, Serratosa, José M.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2017
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5708701/
https://ncbi.nlm.nih.gov/pubmed/29190809
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0188978
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