Cargando…
KCNQ2 mutations in childhood nonlesional epilepsy: Variable phenotypes and a novel mutation in a case series
BACKGROUND: Epilepsy caused by a KCNQ2 gene mutation usually manifests as neonatal seizures during the first week of life. The genotypes and phenotypes of KCNQ2 mutations are noteworthy. METHODS: The KCNQ2 sequencings done were selected from 131 nonconsanguineous pediatric epileptic patients (age ra...
Autores principales: | Lee, Inn‐Chi, Chang, Tung‐Ming, Liang, Jao‐Shwann, Li, Shuan‐Yow |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625149/ https://www.ncbi.nlm.nih.gov/pubmed/31199083 http://dx.doi.org/10.1002/mgg3.816 |
Ejemplares similares
-
A Wide Spectrum of Genetic Disorders Causing Severe Childhood Epilepsy in Taiwan: A Case Series of Ultrarare Genetic Cause and Novel Mutation Analysis in a Pilot Study
por: Hong, Syuan-Yu, et al.
Publicado: (2020) -
Heteromeric Kv7.2 current changes caused by loss-of-function of KCNQ2 mutations are correlated with long-term neurodevelopmental outcomes
por: Lee, Inn-Chi, et al.
Publicado: (2020) -
Surgical Approaches in Nonlesional Neocortical Epilepsy
por: Lee, Sang Kun
Publicado: (2011) -
Extrahippocampal Desynchronization in Nonlesional Temporal Lobe Epilepsy
por: Pastor, Jesús, et al.
Publicado: (2012) -
Clinical characteristics of patients with benign nonlesional temporal lobe epilepsy
por: Kim, Jiyeon, et al.
Publicado: (2016)