The First Korean Case of KCNQ2 Mutation in a Family with Benign Familial Neonatal Convulsions.
10.3346/jkms.2010.25.2.324
- Author:
Mi Sun YUM
1
;
Tae Sung KO
;
Han Wook YOO
Author Information
1. Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. tsko@amc.seoul.kr
- Publication Type:Case Reports
- Keywords:
Epilepsy, Benign Neonatal;
KCNQ2 Potassium Channel;
Epilepsy;
Mutation
- MeSH:
Electroencephalography;
Epilepsy, Benign Neonatal/*diagnosis/genetics;
Female;
Humans;
Infant, Newborn;
KCNQ2 Potassium Channel/*genetics;
Magnetic Resonance Imaging;
Mutation;
Pedigree;
Republic of Korea;
Sequence Analysis, DNA
- From:Journal of Korean Medical Science
2010;25(2):324-326
- CountryRepublic of Korea
- Language:English
-
Abstract:
Neonatal seizures represent a heterogeneous group of disorders with vastly different etiologies and outcomes. Benign familial neonatal convulsions (BFNC) are a distinctive epileptic syndrome of autosomal dominant inheritance with a favorable prognosis, characterized by the occurrence of unprovoked partial or generalized clonic seizures in the neonatal period or early infancy. Recently, mutations in two potassium channel genes, KCNQ2 and KCNQ3, have been described in this disorder. In this report, we describe a family with BFNC due to a KCNQ2 mutation, the first such family to be described in the Korean population. The diagnosis of BFNC can be made based on clinical suspicion and careful history taking with special emphasis on the familial nature of the disorder. KCNQ2 mutations may be associated with BFNC in a number of different races, as has been reported in other ethnic groups.
