A Mutation in the SCN1A Gene With a Peculiar Course: A Case Report.
Cureus
; 13(2): e13612, 2021 Feb 28.
Article
em En
| MEDLINE
| ID: mdl-33816011
ABSTRACT
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.
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MEDLINE
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En
Ano de publicação:
2021
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Article