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- Title
Infantile seizures and other epileptic phenotypes in a Chinese family with a missense mutation of KCNQ2.
- Authors
Zhou, Xihui; Ma, Aiqun; Liu, Xiaohong; Huang, Chen; Zhang, Yanmin; Shi, Ruiming; Mao, Shiwei; Geng, Tao; Li, Shengbin
- Abstract
<bold>Introduction: </bold>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.<bold>Subjects and Methods: </bold>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).<bold>Results and Discussion: </bold>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.
- Subjects
CHINA; INFANTILE spasms; CHILDHOOD epilepsy; GENETIC mutation; CHROMOSOME abnormalities; PHENOTYPES; AGE factors in disease; COMPARATIVE studies; EPILEPSY; FAMILY health; GENEALOGY; GENETICS; GENETIC techniques; RESEARCH methodology; MEDICAL cooperation; RESEARCH; STATISTICAL sampling; EVALUATION research; RANDOMIZED controlled trials; CASE-control method
- Publication
European Journal of Pediatrics, 2006, Vol 165, Issue 10, p691
- ISSN
0340-6199
- Publication type
journal article
- DOI
10.1007/s00431-006-0157-5