Key result
Sequence variations in KCNQ2 and KCNQ3, including the KCNQ3 p.Pro574Ser variant found in 8 of 455 patients versus 0 of 454 controls (p=0.008), contribute to idiopathic epilepsy syndromes.
Why the study?
Do KCNQ2 and KCNQ3 mutations contribute to the pathogenesis of common idiopathic epilepsies?
Population
58 nuclear families with rolandic epilepsy, and a case-control sample of 459 German patients with idiopathic…
Comparison
Sequence analysis of KCNQ2, Q3, and Q5 coding… vs Population controls
Design
Case-control
Authors
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KCNQ2/3 variants may contribute to idiopathic epilepsy; case-control data are hypothesis-generating and should not yet alter clinical testing.
Case-Control (n=921)
Do KCNQ2 and KCNQ3 mutations contribute to the pathogenesis of common idiopathic epilepsies?
Sequence variations in the KCNQ2 and KCNQ3 genes are associated with common idiopathic epilepsy syndromes.
Neubauer et al. (2008) conducted a case-control in Idiopathic epilepsy syndromes (n=921). KCNQ2, KCNQ3, and KCNQ5 sequence variations vs. Population controls was evaluated on Frequency of KCNQ2, KCNQ3, and KCNQ5 variants. Sequence variations in KCNQ2 and KCNQ3, including the KCNQ3 p.Pro574Ser variant found in 8 of 455 patients versus 0 of 454 controls (p=0.008), contribute to idiopathic epilepsy syndromes.
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