Effect of fenfluramine on seizures and comorbidities in SCN8A‐developmental and epileptic encephalopathy: A case series
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DOI: 10.1002/epi4.12623
Abstract: SCN8A‐developmental and epileptic encephalopathy is caused by pathogenic variants in the SCN8A gene encoding the Nav1.6 sodium channel, and is characterized by intractable multivariate seizures and developmental regression. Fenfluramine is a repurposed drug with proven… read more here.
Keywords: developmental epileptic; scn8a developmental; effect fenfluramine; fenfluramine ... See more keywords
The phenotype of SCN8A developmental and epileptic encephalopathy
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DOI: 10.1212/wnl.0000000000006199
Abstract: Objective To delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558). Methods Twenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment. Results Sixteen of 22 patients had mildly… read more here.
Keywords: epileptic encephalopathy; scn8a developmental; phenotype scn8a; semiology ... See more keywords