Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations.

ABSTRACT:

Objective

To explore the prognostic value of initial clinical and mutational findings in infants with SCN1A mutations.

Methods

Combining sex, age/fever at first seizure, family history of epilepsy, EEG, and mutation type, we analyzed the accuracy of significant associations in predicting Dravet syndrome vs milder outcomes in 182 mutation carriers ascertained after seizure onset. To assess the diagnostic accuracy of all parameters, we calculated sensitivity, specificity, receiver operating characteristic (ROC) curves, diagnostic odds ratios, and positive and negative predictive values and the accuracy of combined information. We also included in the study demographic and mutational data of the healthy relatives of mutation carrier patients.

Results

Ninety-seven

SUBMITTER: Cetica V 

PROVIDER: S-EPMC5384833 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature