European Journal of Pediatrics

, Volume 165, Issue 10, pp 691–695

Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2

  • Xihui Zhou
  • Aiqun Ma
  • Xiaohong Liu
  • Chen Huang
  • Yanmin Zhang
  • Ruiming Shi
  • Shiwei Mao
  • Tao Geng
  • Shengbin Li
Original Paper

DOI: 10.1007/s00431-006-0157-5

Cite this article as:
Zhou, X., Ma, A., Liu, X. et al. Eur J Pediatr (2006) 165: 691. doi:10.1007/s00431-006-0157-5

Abstract

Introduction

Benign familial infantile seizures (BFIS) is a form of idiopathic epilepsy characterized by clusters of afebrile seizures occurring around the sixth month of life and a favorable outcome. Linkage analysis has revealed that three chromosomal segments, 19q12-q13.1, 16p12-q12, and 2q23-31, are linked to this disorder.

Subjects and methods

We report here a large Chinese family in which all 17 affected members had had infantile seizures with onset at age 2–4 months, with two of these also manifesting seizures later in life accompanied with either choreoathetosis or myokymia. Linkage analysis in this family confirmed a previous report of genetic heterogeneity in BFIS – since linkage was excluded at the above-mentioned known BFIS loci – and suggested a possible linkage to the KCNQ2 gene, which is believed to be a voltage gated potassium channel gene responsible for benign familial neonatal seizures (BFNS).

Results and discussion

Sequencing of the KCNQ2 gene revealed that all 17 affected family members carried a heterozygous Gly-to-Val (G271V) mutation in the conserved pore region that resulted from a guanine-to-thymine transition in exon 5 of KCNQ2. The same mutation with a comparable localization in the KCNQ3 (G310V) gene has been found in BFNS patients. The same conserved amino acid was also found to be mutated in the KCNQ1 gene in a family with Long QT Syndrome.

Keywords

Benign familial infantile seizures (BFIS) KCNQ2 Linkage analysis Mutation Potassium channel 

Abbreviations

BFIS

Benign familial infantile seizures

BFNS

Benign familial neonatal seizures

EEG

Electroencephalograms

KCNQ

Potassium channel subfamily Q member

LQTS

Long QT syndrome

Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Xihui Zhou
    • 2
  • Aiqun Ma
    • 1
  • Xiaohong Liu
    • 2
  • Chen Huang
    • 3
  • Yanmin Zhang
    • 2
  • Ruiming Shi
    • 2
  • Shiwei Mao
    • 4
  • Tao Geng
    • 2
  • Shengbin Li
    • 4
  1. 1.Department of Cardiology, First Affiliated Hospital, Ion Channel Disease Laboratory, Key Laboratory of Environment and Genes related to Diseases (Xi’an Jiaotong University)Ministry of Education, Medical College of Xi’an Jiaotong UniversityXi’anPeople’s Republic of China
  2. 2.Department of Pediatrics, First Affiliated Hospital, Ion Channel Disease Laboratory, Key Laboratory of Environment and Genes related to Diseases (Xi’an Jiaotong University)Ministry of Education, Medical College of Xi’an Jiaotong UniversityXi’anPeople’s Republic of China
  3. 3.Central laboratory of Biochemical ResearchMedical College of Xi’an Jiaotong UniversityXi’anPeople’s Republic of China
  4. 4.Department of Forensic MedicineMedical College of Xi’an Jiaotong UniversityXi’anPeople’s Republic of China

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