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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Sociedade Brasileira de Pediatria,
2023-06-01T00:00:00Z.
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