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• W2111187306 abstract "<b>Background: </b> Peripheral nerve hyperexcitability (PNH) is characterized by muscle overactivity due to spontaneous discharges of lower motor neurons usually associated with antibodies against voltage-gated potassium channels. PNH may also occur in combination with episodic ataxia or epilepsy caused by mutations in K_V1.1 or K_V7.2 channels. Only one PNH-associated mutation has been described so far in K_V7.2 (R207W), in a family with both PNH and neonatal seizures. <b>Methods: </b> PNH was characterized by video and electromyography. The <i>KCNQ2</i> gene was sequenced and K_V7.2 channels were functionally characterized using two-microelectrode voltage-clamping in <i>Xenopus</i> oocytes. <b>Results: </b> In a patient with PNH without other neurologic symptoms, we identified a novel <i>KCNQ2</i> mutation predicting loss of a charged residue within the voltage sensor of K_V7.2 (R207Q). Functional analysis of both PNH-associated mutants revealed large depolarizing shifts of the conductance-voltage relationships and marked slowing of the activation time course compared to wild type (WT) channels, less pronounced for R207Q than R207W. Co-expression of both mutant with WT channels revealed a dominant negative effect reducing the relative current amplitudes after short depolarizations by >70%. The anticonvulsant retigabine, an activator of neuronal K_V7 channels, reversed the depolarizing shift. <b>Conclusions: </b> Mutations in <i>KCNQ2</i> can cause idiopathic PNH alone and should be considered in sporadic cases. Both K_V7.2 mutants produce PNH by changing voltage-dependent activation with a dominant negative effect on the WT channel. This distinguishes them from all hitherto examined Kv7.2 or K_V7.3 mutations which cause neonatal seizures by haploinsufficiency. Retigabine may be beneficial in treating PNH." @default.
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• W2111187306 date "2007-09-13" @default.
• W2111187306 modified "2023-09-30" @default.
• W2111187306 title "Peripheral nerve hyperexcitability due to dominant-negative KCNQ2 mutations" @default.
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• W2111187306 doi "https://doi.org/10.1212/01.wnl.0000275523.95103.36" @default.
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