De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy

OBJECTIVE: We describe 2 additional patients with early-onset epilepsy with a de novo FGF12 mutation. METHODS: Whole-exome sequencing was performed in 2 unrelated patients with early-onset epilepsy and their unaffected parents. Genetic variants were assessed by comparative trio analysis. Clinical ev...

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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Guella, Ilaria, Huh, Linda, McKenzie, Marna B., Toyota, Eric B., Bebin, E. Martina, Thompson, Michelle L., Cooper, Gregory M., Evans, Daniel M., Buerki, Sarah E., Adam, Shelin, Van Allen, Margot I., Nelson, Tanya N., Connolly, Mary B., Farrer, Matthew J., Demos, Michelle
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5113095/
https://ncbi.nlm.nih.gov/pubmed/27872899
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000120
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