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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5113095/
https://www.ncbi.nlm.nih.gov/pubmed/27872899
http://dx.doi.org/10.1212/NXG.0000000000000120

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5113095/
https://www.ncbi.nlm.nih.gov/pubmed/27872899
http://dx.doi.org/10.1212/NXG.0000000000000120

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