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. 2006 Oct;165(10):691-5.
doi: 10.1007/s00431-006-0157-5. Epub 2006 May 12.

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

Xihui Zhou  1 , Aiqun Ma, Xiaohong Liu, Chen Huang, Yanmin Zhang, Ruiming Shi, Shiwei Mao, Tao Geng, Shengbin Li
Affiliations

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

Xihui Zhou et al. Eur J Pediatr. 2006 Oct.

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.

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References

    1. Epilepsy Res. 2005 Jul;65(3):161-8 - PubMed
    1. Epilepsia. 2006 Jan;47(1):218-20 - PubMed
    1. Nat Genet. 1998 Jan;18(1):53-5 - PubMed
    1. Ann Neurol. 2000 Jun;47(6):822-6 - PubMed
    1. Epilepsy Res. 2003 Apr;54(1):21-7 - PubMed

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