GTR Home > Conditions/Phenotypes > Generalized epilepsy with febrile seizures plus, type 1

Summary

Excerpted from the GeneReview: SCN1A Seizure Disorders
SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome are often associated with cognitive decline. Less commonly observed phenotypes include myoclonic astatic epilepsy (MAE), Lennox-Gastaut syndrome, infantile spasms, epilepsy with focal seizures, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A seizure disorders can vary even within the same family.

Genes See tests for all associated and related genes

  • Also known as: ATFB13, BRGDA5, EIEE52, GEFSP1, SCN1B
    Summary: sodium voltage-gated channel beta subunit 1

Clinical features

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Practice guidelines

  • EFNS, 2010
    EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

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