Articles with "scn1b linked" as a keyword



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SCN1B‐linked early infantile developmental and epileptic encephalopathy

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Published in 2019 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.50921

Abstract: Patients with Early Infantile Epileptic Encephalopathy (EIEE) 52 have inherited, homozygous variants in the gene SCN1B, encoding the voltage‐gated sodium channel (VGSC) β1 and β1B non‐pore‐forming subunits. read more here.

Keywords: epileptic encephalopathy; linked early; scn1b linked; early infantile ... See more keywords