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Article

Expanding the genotype-phenotype spectrum in SCN8A-related disorders

2023-08-08

Abstract excerpt

<title>Abstract</title> <p>Background <italic>SCN8A</italic>-related disorders are a group of variable conditions caused by pathogenic variations in <italic>SCN8A.</italic> Online Mendelian Inheritance in Man (OMIM) terms them as developmental and epileptic encephalopathy 13, benign familial infantile seizures 5 or cognitive impairment with or without cerebellar ataxia. Methods In this study, we describe clinic...

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Literature Corpus work
89d0b89c-d9cb-54e3-a43b-365c8da7a266
DOI
10.21203/rs.3.rs-3221902/v1
Open publication

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Expanding the genotype-phenotype spectrum in SCN8A-related disordersDOI 10.21203/rs.3.rs-3221902/v1
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