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

• Glavni autori: Zahra Zhu (Autor), Elizabeth Bolt (Autor), Kyra Newmaster (Autor), Wendy Osei-Bonsu (Autor), Stacey Cohen (Autor), Vishnu Anand Cuddapah (Autor), Siddharth Gupta (Autor), Sita Paudel (Autor), Debopam Samanta (Autor), Louis T. Dang (Autor), Paul R. Carney (Autor), Sunil Naik (Autor)
• Format: Knjiga
• Izdano: MDPI AG, 2022-10-01T00:00:00Z.
• Teme: article
• Online pristup: 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&...