Journal of Pediatric Epilepsy 2016; 05(01): 037-041
DOI: 10.1055/s-0035-1567850
Case Report
Georg Thieme Verlag KG Stuttgart · New York

A Novel KCNQ2 Mutation in a Child with Benign Familial Neonatal Seizures and Rolandic Epilepsy

Louis N. Manganas
1   Department of Neurology, Yale University School of Medicine, New Haven, Connecticut, United States
2   Department of Neurology, Stony Brook University Medical Center, Stony Brook, New York, United States
,
Anna M. Szekely
1   Department of Neurology, Yale University School of Medicine, New Haven, Connecticut, United States
3   Department of Genetics, Yale University School of Medicine, New Haven, Connecticut, United States
,
Richard H. Mattson
1   Department of Neurology, Yale University School of Medicine, New Haven, Connecticut, United States
› Author Affiliations
Further Information

Publication History

12 August 2015

25 August 2015

Publication Date:
19 November 2015 (online)

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.

Supplementary Material