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

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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Bibliographic Details
Main Authors: Ana Victoria Marco Hernández, Miguel Tomás Vila, Alfonso Caro Llopis, Sandra Monfort, Francisco Martinez
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-11-01
Series:Frontiers in Neurology
Subjects:
SCN1A
Dravet syndrome
GEFS+
homozygous
autosomal recessive inheritance
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2021.784892/full

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https://www.frontiersin.org/articles/10.3389/fneur.2021.784892/full

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