Table 2.xls (5.5 kB)

Clinical diagnosis in 87 patients with epilepsy and developmental delay.

Name: Clinical diagnosis in 87 patients with epilepsy and developmental delay.
Published: 2017-11-30T18:56:48+00:00
License: https://creativecommons.org/licenses/by/4.0/
Keywords: Molecular diagnosis, disease-causing variants, RX, POLG, success rate, CHD 2, epilepsy diagnosis, PCDH 19, 18 variants, SCN 1A, STXBP 1, SYNGAP 1, next-generation sequencing, gene panel, epilepsy genes Pediatric epilepsies, ALG 13, SLC 2A, KCNQ 2, 87 patients, delay, Haloplex panel, CDKL 5, phenotypic spectrum, sequential single-gene testing, GRIN, generation sequencing, epilepsy-associated genes

dataset

posted on 2017-11-30, 18:56 authored by Laura Ortega-Moreno, Beatriz G. Giráldez, Victor Soto-Insuga, Rebeca Losada-Del Pozo, María Rodrigo-Moreno, Cristina Alarcón-Morcillo, Gema Sánchez-Martín, Esther Díaz-Gómez, Rosa Guerrero-López, José M. Serratosa

Clinical diagnosis in 87 patients with epilepsy and developmental delay.

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