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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...
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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5932755/ https://ncbi.nlm.nih.gov/pubmed/29720203 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0812-8 |
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