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Journal of Pediatric Epilepsy 2016; 05(01): 037-041
DOI: 10.1055/s-0035-1567850
DOI: 10.1055/s-0035-1567850
Case Report
A Novel KCNQ2 Mutation in a Child with Benign Familial Neonatal Seizures and Rolandic Epilepsy
Further Information
Publication History
12 August 2015
25 August 2015
Publication Date:
19 November 2015 (online)
![](https://www.thieme-connect.de/media/10.1055-s-00029025/201601/lookinside/thumbnails/10-1055-s-0035-1567850_14118-1.jpg)
Abstract
Voltage-gated potassium channel gene mutations in KCNQ2 and KCNQ3 α subunits may result in benign familial neonatal seizure (BFNS). Previous reports have implicated KCNQ2 mutations in patients with BFNS who later developed rolandic epilepsy (RE). We describe an 8-year-old boy with BFNS who developed RE. A three-generation pedigree showed multiple individuals presenting with seizures within the first days of life. Whole exome sequencing in this patient revealed a novel mutation in the KCNQ2 pore region. To our knowledge, this is the first report of BFNS with RE described with a KCNQ2 mutation localizing to the pore domain.
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