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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| Auteurs principaux: | , , , , |
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| Format: | article |
| Langue: | EN |
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Frontiers Media S.A.
2021
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| Accès en ligne: | https://doaj.org/article/3195abfa2c1744379b4f8e683fa56303 |
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