Case Report: Novel Homozygous Likely Pathogenic SCN1A Variant With Autosomal Recessive Inheritance and Review of the Literature

Dominant pathogenic variations in the SCN1A gene are associated with several neuro developmental disorders with or without epilepsy, including Dravet syndrome (DS). Conversely, there are few published cases with homozygous or compound heterozygous variations in the SCN1A gene. Here, we describe two...

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Detalles Bibliográficos
Autores principales: Marco Hernández, Ana Victoria, Tomás Vila, Miguel, Caro Llopis, Alfonso, Monfort, Sandra, Martinez, Francisco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8669891/
https://www.ncbi.nlm.nih.gov/pubmed/34917021
http://dx.doi.org/10.3389/fneur.2021.784892

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8669891/
https://www.ncbi.nlm.nih.gov/pubmed/34917021
http://dx.doi.org/10.3389/fneur.2021.784892

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