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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
Epileptic encephalopathies are a phenotypically and genetically heterogeneous group of severe epilepsies accompanied by intellectual disability and other neurodevelopmental features(1-6). Using next generation sequencing, we identified four different de novo mutations in KCNA2, encoding the potassiu...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
2015
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380508/ https://www.ncbi.nlm.nih.gov/pubmed/25751627 http://dx.doi.org/10.1038/ng.3239 |