Mutação no gene scn1a e suas diferentes expressões fenotípicas - comparação de dois casos

INTRODUCTION: Heterozygous mutations in the SCN1A gene are linked to a wide spectrum of epileptic disorders, ranging from self-limited conditions to epileptic encephalopathies, such as Dravet Syndrome. Seizure control is important to prevent both sudden death and morbidity associated with prolonged...

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Bibliographic Details
Main Authors: Brenda Klemm Arci Mattos de Freitas Alves, Flávia Nardes dos Santos
Format: Article
Language:English
Published: Sociedade Brasileira de Pediatria 2023-06-01
Series:Residência Pediátrica
Subjects:
Online Access:https://residenciapediatrica.com.br/detalhes/1321/mutacao%20no%20gene%20scn1a%20e%20suas%20diferentes%20expressoes%20fenotipicas%20-%20comparacao%20de%20dois%20casos