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

• Main Authors: Brenda Klemm Arci Mattos de Freitas Alves (Author), Flávia Nardes dos Santos (Author)
• Format: Book
• Published: Sociedade Brasileira de Pediatria, 2023-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...