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

ABSTRACT:

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 affected siblings in the original report.

Results

We identified the same FGF12 de novo mutation reported previously (c.G155A, p.R52H) in 2 additional patients with early-onset epilepsy. Similar to the original brothers described, both presented with tonic seizures in the first month of life. In the first patient, seizures responded to sodium channel

SUBMITTER: Guella I 

PROVIDER: S-EPMC5113095 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature