Phenotypic and genetic spectrum of SCN 8A ‐related disorders, treatment options, and outcomes

Volume: 60, Issue: S3
Published: Dec 1, 2019
Abstract
Pathogenic variants in SCN8A have originally been described in patients with developmental and epileptic encephalopathy (DEE). However, recent studies have shown that SCN8A variants can be associated with a broader phenotypic spectrum, including the following: (1) Patients with early onset, severe DEE, developing severe cognitive and motor regression, pyramidal/extrapyramidal signs, and cortical blindness. Severe SCN8A-DEE is characterized by...
Paper Details
Title
Phenotypic and genetic spectrum of SCN 8A ‐related disorders, treatment options, and outcomes
Published Date
Dec 1, 2019
Journal
Volume
60
Issue
S3
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