Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-Like Syndrome Caused by a Novel Splicing Variant in the SCN2A Gene

Febrile-associated epileptic encephalopathy is a large genetically heterogeneous group that is associated with pathogenic variants in SCN1A, PCDH19, SCN2A, SCN8A, and other genes. The disease onset ranges from neonatal or early-onset epileptic encephalopathy to late-onset epilepsy after 18 months. S...

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Detalles Bibliográficos
Autores principales: Sharkov, Artem, Sparber, Peter, Stepanova, Anna, Pyankov, Denis, Korostelev, Sergei, Skoblov, Mikhail
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9194094/
https://www.ncbi.nlm.nih.gov/pubmed/35711923
http://dx.doi.org/10.3389/fgene.2022.888481

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9194094/
https://www.ncbi.nlm.nih.gov/pubmed/35711923
http://dx.doi.org/10.3389/fgene.2022.888481

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