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De novo truncating mutation in SCN1A as a cause of febrile seizures plus (FS+) Volume 22, issue 3, June 2020

  • [Depienne et al., 2009] Depienne C., Trouillard O., Saint-Martin C. Spectrum SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients. J Med Genet. 2009;46:183-191. 3
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  • [Marini et al., 2018] Marini C., Porro A., Rastetter A. HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond. Brain. 2018;141:3160-3178. 11
  • [Meisler et al., 2010] Meisler M.H., O’Brien J.E., Sharkey L.M. Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. J Physiol. 2010;588:1841-1848. 11
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  • [Myers et al., 2018] Myers K.A., Scheffer I.E., Berkovic S.F. Genetic literacy series: genetic epilepsy with febrile seizures plus. Epileptic Disord. 2018;20:232-238. on behalf of the ILAE Genetics Commission4
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