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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...
| Autores principales: | , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5708701/ https://www.ncbi.nlm.nih.gov/pubmed/29190809 http://dx.doi.org/10.1371/journal.pone.0188978 |