A Mutation in the SCN1A Gene With a Peculiar Course: A Case Report

被引：1

作者：

Sur, Lucia ^{[1
]}

Samasca, Gabriel ^{[2
]}

Sur, Genel ^{[3
]}

Gaga, Remus ^{[3
]}

Aldea, Cornel ^{[3
]}

机构：

[1] Iuliu Hatieganu Univ Med & Pharm, Pediat, Cluj Napoca, Romania

[2] Iuliu Hatieganu Univ Med & Pharm, Immunol, Cluj Napoca, Romania

[3] Emergency Clin Hosp Children, Pediat, Cluj Napoca, Romania

来源：

CUREUS JOURNAL OF MEDICAL SCIENCE | 2021年 / 13卷 / 02期

关键词：

epilepsy; febrile seizures; brain mri normal; child; no neurological degradation; MORTALITY;

D O I：

10.7759/cureus.13612

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In this report, we present the case of a one-year-old female patient with a history of febrile seizures, which was characterized by multiple seizures during hot baths and more than one episode of status epilepticus. Dravet syndrome was suspected due to the clinical context of the seizures and was confirmed by genetic testing. The brain MRI was found to be normal. Throughout the course of disease progression, the patient showed no signs of neurological degradation. The patient was found to have a mutation in the SCN1A gene with a peculiar course, which had not been reported previously. The normal psychomotor development, as seen in this case, highlights the different possibilities related to disease progression in Dravet syndrome.

引用

页数：3

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