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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Detalles Bibliográficos
Autores principales: Zhu, Zahra, Bolt, Elizabeth, Newmaster, Kyra, Osei-Bonsu, Wendy, Cohen, Stacey, Cuddapah, Vishnu Anand, Gupta, Siddharth, Paudel, Sita, Samanta, Debopam, Dang, Louis T., Carney, Paul R., Naik, Sunil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600564/
https://www.ncbi.nlm.nih.gov/pubmed/36291443
http://dx.doi.org/10.3390/children9101507

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9600564/
https://www.ncbi.nlm.nih.gov/pubmed/36291443
http://dx.doi.org/10.3390/children9101507

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