KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

ABSTRACT:

Objective

To advance the understanding of KCNQ2 encephalopathy genotype-phenotype relationships and to begin to assess the potential of selective KCNQ channel openers as targeted treatments.

Methods

We retrospectively studied 23 patients with KCNQ2 encephalopathy, including 11 treated with ezogabine (EZO). We analyzed the genotype-phenotype relationships in these and 70 previously described patients.

Results

The mean seizure onset age was 1.8 ± 1.6 (SD) days. Of the 20 EEGs obtained within a week of birth, 11 showed burst suppression. When new seizure types appeared in infancy (15 patients), the most common were epileptic spasms (n = 8). At last follow-up, seizures persisted in 9 patients. Development was delayed in all, severely in 14. The KCNQ2 variants identified i

SUBMITTER: Millichap JJ 

PROVIDER: S-EPMC4995058 | biostudies-literature | 2016 Oct

REPOSITORIES: biostudies-literature