| Autor: |
Van LTK; Neurology Department, Children Hospital 2, Ho Chi Minh City, 70000, Vietnam., Hien HTD; Research Center for Genetics and Reproductive Health, School of Medicine, Vietnam National University HCMC, Ho Chi Minh City, 70000, Vietnam., Kieu HTT; Neurology Department, Children Hospital 2, Ho Chi Minh City, 70000, Vietnam., Hieu NLT; Neurology Department, Children Hospital 2, Ho Chi Minh City, 70000, Vietnam., Vinh LS; University of Engineering and Technology, Vietnam National University Hanoi, Hanoi, 10000, Vietnam., Hoa G; Medical Genetics Institute, Ho Chi Minh City, 70000, Vietnam., Hang DTT; Research Center for Genetics and Reproductive Health, School of Medicine, Vietnam National University HCMC, Ho Chi Minh City, 70000, Vietnam. dtthang@medvnu.edu.vn. |
| Abstrakt: |
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. |
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