Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies.

ABSTRACT:

Background and objectives

Pathogenic variants in the neuronal sodium channel α1 subunit gene (SCN1A) are the most frequent monogenic cause of epilepsy. Phenotypes comprise a wide clinical spectrum, including severe childhood epilepsy; Dravet syndrome, characterized by drug-resistant seizures, intellectual disability, and high mortality; and the milder genetic epilepsy with febrile seizures plus (GEFS+), characterized by normal cognition. Early recognition of a child's risk for developing Dravet syndrome vs GEFS+ is key for implementing disease-modifying therapies when available before cognitive impairment emerges. Our objective was to develop and validate a prediction model using clinical and genetic biomarkers for early diagnosis of SCN1A-related epilepsies.

Metho

SUBMITTER: Brunklaus A 

PROVIDER: S-EPMC8935441 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature