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Article

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

14 Nov 2016

Abstract excerpt

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 evolution, EEG, and neuroimaging are described. The phenotype and response to treatment was reviewed and compared to...

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PMID: 27872899
DOI: 10.1212/nxg.0000000000000120

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