De novo SCN1A pathogenic variants in the GEFS+ spectrum: Not always a familial syndrome.

Abstract excerpt

Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by heterogeneous phenotypes ranging from mild disorders such as febrile seizures to epileptic encephalopathies (EEs) such as Dravet syndrome (DS). Although DS often occurs with de novo SCN1A pathogenic variants, milder GEFS+ spectrum phenotypes are associated with inherited pathogenic variants. We identified seven...

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• Child
• Electroencephalography
• Epilepsies, Myoclonic
• Family Health
• Models, Molecular