De novo homozygous variant of the SCN1A gene in a patient with severe Dravet syndrome complicated by acute encephalopathy.
Neurogenetics
; 22(2): 133-136, 2021 05.
Article
em En
| MEDLINE
| ID: mdl-33674996
ABSTRACT
Variants in the SCN1A gene have been identified in epilepsy patients with widely variable phenotypes and they are generally heterozygous. Here, we report a homozygous missense variant, NM_001165963.4 c.4319C>T (p.Ala1440Val), in the SCN1A gene which seemed to occur de novo together with a gene conversion event. It's highly possible that this variant, although located in a critical functional domain of protein Nav1.1, depending on the nature of the amino acid substitution, may not cause the complete loss of protein function. And the accumulated effect by having this variant on both alleles results in a Dravet syndrome phenotype which is more severe than average. This first report of a de novo homozygous variant in the SCN1A gene, therefore, provides a clear illustration of a complex genotype-phenotype relationship.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Encefalopatias
/
Epilepsias Mioclônicas
/
Mutação Puntual
/
Mutação de Sentido Incorreto
/
Canal de Sódio Disparado por Voltagem NAV1.1
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article