Articles with "phenotype scn8a" as a keyword



The phenotype of SCN8A developmental and epileptic encephalopathy

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Published in 2018 at "Neurology"

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