Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

@inproceedings{Boerma2015RemarkablePS,
  title={Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach},
  author={Ragna S. Boerma and Kees Pj Braun and Maarten P. H. van de Broek and Frederique M. C. van Berkestijn and Marielle E.M. Swinkels and Eveline E. O. Hagebeuk and Dick Lindhout and Marjan J. A. van Kempen and Maartje Boon and J. Nicolai and Carolien G F de Kovel and Eva H. Brilstra and Bobby P. C. Koeleman},
  booktitle={Neurotherapeutics},
  year={2015}
}
Mutations in SCN8A are associated with epilepsy and intellectual disability. SCN8A encodes for sodium channel Nav1.6, which is located in the brain. Gain-of-function missense mutations in SCN8A are thought to lead to increased firing of excitatory neurons containing Nav1.6, and therefore to lead to increased seizure susceptibility. We hypothesized that sodium channel blockers could have a beneficial effect in patients with SCN8A-related epilepsy by blocking the overactive Nav1.6 and thereby… CONTINUE READING

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Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy. Epilepsy Res 2014;108:1511–1518

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