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...

Full description

Saved in:
Bibliographic Details
Main Authors: Ana Victoria Marco Hernández, Miguel Tomás Vila, Alfonso Caro Llopis, Sandra Monfort, Francisco Martinez
Format: article
Language:EN
Published: Frontiers Media S.A. 2021
Subjects:
SCN1A
Dravet syndrome
GEFS+
homozygous
autosomal recessive inheritance
Neurology. Diseases of the nervous system
RC346-429
Online Access:https://doaj.org/article/3195abfa2c1744379b4f8e683fa56303
Tags: Add Tag
No Tags, Be the first to tag this record!

Internet

https://doaj.org/article/3195abfa2c1744379b4f8e683fa56303

Similar Items