Key result
Mutation analysis identified three de novo KCNQ2 mutations in four out of six patients with benign neonatal seizures.
Observational (n=6)
De novo KCNQ2 mutations can be found in patients with benign neonatal seizures without a family history.
This is the authors' abstract. We don't add key points for this paper.
Benign familial neonatal convulsions (BFNC) are characterized by unprovoked seizures during the first weeks of life with spontaneous remission after a few months. Mutations have been identified in the voltage-gated potassium ion channels KCNQ2 and KCNQ3. The authors performed a mutation analysis of KCNQ2 and KCNQ3 in six patients of whom four had no family history of neonatal seizures. The authors identified three KCNQ2 mutations in four patients that all arose de novo.
May warrant KCNQ2 testing in sporadic benign neonatal seizures; leaves open prevalence and causality pending larger cohorts.
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Claes et al. (2004) conducted an observational in Benign neonatal seizures (n=6). Mutation analysis of KCNQ2 and KCNQ3 was evaluated on Identification of KCNQ2 and KCNQ3 mutations. Mutation analysis identified three de novo KCNQ2 mutations in four out of six patients with benign neonatal seizures.
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