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Lee H, Lin MC, Kornblum HI, Papazian DM, Nelson SF (2014) Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation. Hum Mol Genet 23:3481-9 [PubMed]

References and models cited by this paper

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Miceli F, Soldovieri MV, Ambrosino P, De Maria M, Migliore M, Migliore R, Taglialatela M (2015) Early-onset epileptic encephalopathy caused by gain-of-function mutations in the voltage sensor of Kv7.2 and Kv7.3 potassium channel subunits. J Neurosci 35:3782-93 [Journal] [PubMed]
   Early-onset epileptic encephalopathy (Miceli et al. 2015) [Model]
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