Key result
Novel mutations in the KCNQ2 gene link benign familial neonatal seizures to a dysfunction of the KCNQ2-calmodulin interaction.
Investigates the genetic basis of benign familial neonatal seizures by examining KCNQ2 mutations and their functional impact on calmodulin interaction.
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May aid genetic counseling in BFNS; extends KCNQ2 mechanism but leaves therapeutic implications open.
potassium voltage gated channel, KQT-like subfamily, member 2; KCNQ3, Homo sapiens potassium voltage gated channel, KQT-like subfamily, member 3; P-loop, pore loop; M-current, neuronal muscarinic regulated current; S1-6, first to sixth transmembrane domains Key points N We set out to ascertain KCNQ2 mutations in 10 families with benign familial neonatal seizures (BFNS), and to determine if any mutations from the C-terminal region affected the interaction between KCNQ2 and the ubiquitous calcium sensing protein, calmodulin (CaM).N Eight novel mutations were found: two missense start codon mutations and a frameshift mutation in the Nterminal region and a truncation, two putative splice site mutations and two missense mutations in the Cterminal region.
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M. Richards (2004) studied this question. Novel mutations in the KCNQ2 gene link benign familial neonatal seizures to a dysfunction of the KCNQ2-calmodulin interaction.
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