What does the SCN1A gene do?
The SCN1A gene belongs to a family of genes that provide instructions for making sodium channels. These channels, which transport positively charged sodium atoms (sodium ions) into cells, play a key role in a cell’s ability to generate and transmit electrical signals.
What age does Dravet syndrome start?
Symptoms of Dravet syndrome Seizures, usually starting between the ages of 4 months and 12 months, are the first sign of Dravet syndrome. These first seizures often occur with a fever (called febrile seizures).
Is dravet a form of epilepsy?
Dravet syndrome (DS) is a severe form of epilepsy characterized by frequent, prolonged seizures often triggered by high body temperature (hyperthermia), developmental delay, speech impairment, ataxia, hypotonia, sleep disturbances, and other health problems.
Is Dravet a form of epilepsy?
What is the function of SCN1A?
What is SCN1A? SCN1A (sodium voltage-gated channel alpha subunit 1) is a gene that provides instructions for making one part of a sodium channel called NaV1.1. These channels control the flow of sodium into cells in the brain (neurons), which is necessary for electrical balance.
What are 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.
Is SCN1A the same as Dravet?
Besides Dravet, SCN1A is implicated in severe fever-related epilepsies and rare familial epilepsies. Genetic Epilepsy with Febrile Seizures Plus (GEFS+) is a milder autosomal dominant familial epilepsy syndrome.
What is SCN1A code for sodium channel?
Sodium Channels. SCN1A encodes for the alpha-1 subunit of the voltage-gated sodium channel (Na (V)1.1). The transmembrane alpha subunit forms the central pore of the channel. This ion channel is critical to the generation and propagation of action potentials.