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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Veröffentlicht in:Neurol Genet
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: Wolters Kluwer 2016
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Article
Online Zugang: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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