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Article

KCNQ2 encephalopathy

22 Aug 2016

Abstract excerpt

OBJECTIVE: To advance the understanding of KCNQ2 encephalopathy genotype-phenotype relationships and to begin to assess the potential of selective KCNQ channel openers as targeted treatments. METHODS: We retrospectively studied 23 patients with KCNQ2 encephalopathy, including 11 treated with ezogabine (EZO). We analyzed the genotype-phenotype relationships in these and 70 previously described patients. RESULTS:...

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PMID: 27602407
DOI: 10.1212/nxg.0000000000000096

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