SCN1B Genetic Variants: A Review of the Spectrum of Clinical Phenotypes and a Report of Early Myoclonic Encephalopathy

• Main Authors: Zahra Zhu (Author), Elizabeth Bolt (Author), Kyra Newmaster (Author), Wendy Osei-Bonsu (Author), Stacey Cohen (Author), Vishnu Anand Cuddapah (Author), Siddharth Gupta (Author), Sita Paudel (Author), Debopam Samanta (Author), Louis T. Dang (Author), Paul R. Carney (Author), Sunil Naik (Author)
• Format: Book
• Published: MDPI AG, 2022-10-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Pathogenic variants in SCN1B, the gene encoding voltage-gated sodium channel b1/b1B subunits are associated with a spectrum of epileptic disorders. This study describes a child with early myoclonic encephalopathy and a compound heterozygous variant in the SCN1B gene (p.Arg85Cys and c.3G&...