Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations.

ABSTRACT:

Objective

To describe electroclinical features and outcome of 6 patients harboring KCNB1 mutations.

Methods

Clinical, EEG, neuropsychological, and brain MRI data analysis. Targeted next-generation sequencing of a 95 epilepsy gene panel.

Results

The mean age at seizure onset was 11 months. The mean follow-up of 11.3 years documented that 4 patients following an infantile phase of frequent seizures became seizure free; the mean age at seizure offset was 4.25 years. Epilepsy phenotypes comprised West syndrome in 2 patients, infantile-onset unspecified generalized epilepsy, myoclonic and photosensitive eyelid myoclonia epilepsy resembling Jeavons syndrome, Lennox-Gastaut syndrome, and focal epilepsy with prolonged occipital or clonic seizures in each and every one.

SUBMITTER: Marini C 

PROVIDER: S-EPMC5733250 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature