A novel mutation in KCNQ2 gene causes benign familial neonatal convulsions in a Chinese family.
Benign familial neonatal convulsions (BFNC) are a rare autosomal dominant inherited epilepsy syndrome. Two voltage-gated potassium channel genes, KCNQ2 on chromosome 20q13.3 and KCNQ3 on chromosome 8q24, have been identified as the genes responsible for benign familial neonatal convulsions. By linkage analysis and mutation analysis of KCNQ2 gene, we found a novel frameshift mutation of KCNQ2 gene, 1931delG, in a large Chinese family with benign familial neonatal convulsions. This mutation is located in the C-terminus of KCNQ2, in codon 644 predicting the replacement of the last 201 amino acids with a stretch of 257 amino acids showing a completely different sequence. An unusual clinical feature of this family is that the seizures of every patient did not remit until 12 to 18 months. This is the first report of KCNQ2 gene mutation in China.
Tang
Beisha
B
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, PR China. bstang7398@yahoo.com.cn
Li
Haiyan
H
Xia
Kun
K
Jiang
Hong
H
Pan
Qian
Q
Shen
Lu
L
Long
Zhigao
Z
Zhao
Guohua
G
Cai
Fang
F
D001483:Base Sequence; D002681:China; D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D051658:KCNQ2 Potassium Channel; D008297:Male; D010375:Pedigree; D015221:Potassium Channels / Q000235:genetics*; D024642:Potassium Channels, Voltage-Gated; D012640:Seizures / Q000151:congenital / Q000235:genetics*
D051658:KCNQ2 Potassium Channel; C496914:KCNQ2 protein, human; D015221:Potassium Channels; D024642:Potassium Channels, Voltage-Gated