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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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Neurol Genet
Egile Nagusiak: 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
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Wolters Kluwer 2016
Gaiak:
Article
Sarrera elektronikoa: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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