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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Veröffentlicht in:	Frontiers in neurology 2021-11, Vol.12, p.784892, Article 784892
Hauptverfasser:	Marco Hernandez, Ana Victoria, Tomas Vila, Miguel, Caro Llopis, Alfonso, Monfort, Sandra, Martinez, Francisco
Format:	Artikel
Sprache:	eng
Schlagworte:	autosomal recessive inheritance Clinical Neurology Dravet syndrome GEFS homozygous Life Sciences & Biomedicine Neurology Neurosciences Neurosciences & Neurology Science & Technology SCN1A
Online-Zugang:	Volltext
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