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Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life
BACKGROUND: Epilepsy is a heterogeneous disease with a broad phenotypic spectrum and diverse genotypes. A significant proportion of epilepsies has a genetic aetiology. In our study, a custom designed gene panel with 112 genes known to be associated with epilepsies was used. In total, one hundred and...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932755/ https://www.ncbi.nlm.nih.gov/pubmed/29720203 http://dx.doi.org/10.1186/s13023-018-0812-8 |