IndraLab

Statements

SCN1A activates GEFS+. 5 / 5
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"52 Mutations in SCN1A are known to cause genetic epilepsy syndromes including generalized epilepsy with febrile seizures plus (GEFS+) as well as Dravet syndrome."
33236643
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"Since we wanted a model system to study the mechanism by which SCN1A missense mutations lead to GEFS+, we constructed transgenic mice using a BAC clone containing the complete mouse Scn1a gene."
19409490
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"Rare mutations in SCN1A cause a wide spectrum of epilepsy syndromes, including genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS, also known as severe myoclonic epilepsy of infancy) 5, depending on the nature of the mutation and possible genetic modifiers on other genes 30."
25344690
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"This study provides additional evidence that homozygous variants in SCN1A can cause GEFS+."
34174751
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"SCN1A (Na V 1.1 sodium channel) mutations cause Dravet syndrome (DS) and GEFS+ (which is in general milder), and are risk factors in other epilepsies."
30659983