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

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

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&...

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Bibliographic Details
Main Authors: Zahra Zhu, Elizabeth Bolt, Kyra Newmaster, Wendy Osei-Bonsu, Stacey Cohen, Vishnu Anand Cuddapah, Siddharth Gupta, Sita Paudel, Debopam Samanta, Louis T. Dang, Paul R. Carney, Sunil Naik
Format: Article
Language:English
Published: MDPI AG 2022-10-01
Series:Children
Subjects:
SCN1B
voltage-gated sodium channel beta-1
Dravet-like syndrome
DEE
EME
fenfluramine
Online Access:https://www.mdpi.com/2227-9067/9/10/1507

Internet

https://www.mdpi.com/2227-9067/9/10/1507

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