SCN1A Gene and Dravet Syndrome: Mutations and Clinical Trials
The SCN1A gene sits on chromosome 2q24.3, and its full name is sodium voltage-gated channel alpha subunit 1. Orphanet links SCN1A to 7 rare conditions and lists variants in the gene as a cause of all of them. Trial Friend's Dravet Syndrome and Lennox-Gastaut Syndrome pages list SCN1A among the genes behind each condition. As of September 29, 2026, 10 recruiting or soon-opening trials on ClinicalTrials.gov name SCN1A as a gene.
Other symbols for SCN1A in gene databases: GEFSP2, HBSCI, NAC1, Nav1.1, SMEI.
What the SCN1A gene does
SCN1A makes the main part of a sodium channel called NaV1.1, found mostly in the brain. These channels control the flow of sodium into nerve cells and help them send signals to one another.
Summarized from the SCN1A page on MedlinePlus Genetics, U.S. National Library of Medicine, checked September 29, 2026.
Conditions linked to SCN1A on Trial Friend
These condition pages list SCN1A among the genes behind the condition, checked against genetics references when each page was written.
One disease-causing variant can be enough to cause the condition. Most cases are new variants rather than inherited.
Most Dravet syndrome results from a de novo SCN1A variant; an epilepsy multigene panel is the recommended test because other genes can mimic the phenotype.
Most cases come from a new variant in the child rather than one inherited from a parent.
Most cases follow a structural or acquired brain injury; when a genetic cause is found it is usually a de novo variant in one of many epilepsy genes, so panel or exome testing is used.
SCN1A mutation clinical trials
These recruiting or soon-opening trials mention SCN1A as a gene in their title, summary, eligibility rules or keywords. Some want people with a variant in it, and others study it more broadly, which is why each trial's own words are shown. In cancer trials the gene change is usually one found in the tumor rather than one a person inherited.
10 trials, checked September 29, 2026. The list refreshes from ClinicalTrials.gov every few hours.
All conditions linked to SCN1A gene mutations
Orphanet records how each gene relates to each condition. Orphanet links SCN1A to 7 rare conditions and lists variants in the gene as a cause of all of them.
- Causes it. Disease-causing variants in this gene are a direct cause of the condition.
SCN1A genetic test results and what a variant can mean
Labs sort each variant they find into 5 groups, from pathogenic and likely pathogenic through uncertain significance to likely benign and benign. Only the first 2 are usually treated as the cause of a condition. A variant of uncertain significance, or VUS, is one without enough evidence either way yet, and labs can reclassify it as research builds.
A genetic counselor or your doctor can explain what a specific result means for you and your family. Our genetic testing guide covers the terms, and MedlinePlus Genetics from the National Library of Medicine has a plain-language page on SCN1A.
SCN1A gene questions
What does the SCN1A gene do?
SCN1A makes the main part of a sodium channel called NaV1.1, found mostly in the brain. These channels control the flow of sodium into nerve cells and help them send signals to one another. This summary follows MedlinePlus Genetics from the U.S. National Library of Medicine.
Are there clinical trials for people with SCN1A gene variants?
As of September 29, 2026, 10 recruiting or soon-opening trials on ClinicalTrials.gov name SCN1A as a gene. Each one is listed on this page with the words from the trial that mention the gene. ClinicalTrials.gov also lists 21 open trials for Dravet Syndrome and 10 for Lennox-Gastaut Syndrome, and Match Me on Trial Friend can check those against age, sex, location and treatment history.
What conditions are linked to the SCN1A gene?
Orphanet links SCN1A to 7 rare conditions and lists variants in the gene as a cause of all of them. They include Dravet syndrome, Epilepsy of infancy with migrating focal seizures, Lennox-Gastaut syndrome, Epilepsy with myoclonic-atonic seizures, Familial or sporadic hemiplegic migraine, Genetic epilepsy with febrile seizure plus and 1 more. Orphanet is the European rare disease database run by INSERM in Paris.
How is Dravet Syndrome inherited?
The inheritance pattern is autosomal dominant, usually de novo. One disease-causing variant can be enough to cause the condition. Most cases are new variants rather than inherited. Most Dravet syndrome results from a de novo SCN1A variant; an epilepsy multigene panel is the recommended test because other genes can mimic the phenotype.
How is Lennox-Gastaut Syndrome inherited?
The inheritance pattern is usually de novo. Most cases come from a new variant in the child rather than one inherited from a parent. Most cases follow a structural or acquired brain injury; when a genetic cause is found it is usually a de novo variant in one of many epilepsy genes, so panel or exome testing is used.
What does an SCN1A variant of uncertain significance mean?
A variant of uncertain significance, or VUS, is a change in the gene that labs don't yet have enough evidence to call disease-causing or harmless. It is not used on its own to diagnose a condition, and labs can reclassify it as research builds. A genetic counselor can explain what a specific result means for you and your family.
Sources
- Gene and condition links from Orphadata (Orphanet, INSERM US14), used under CC BY 4.0, read September 29, 2026.
- Trials from ClinicalTrials.gov, read September 29, 2026.
- SCN1A gene, MedlinePlus Genetics, U.S. National Library of Medicine.
- Inheritance and gene notes from the Trial Friend condition pages above, each checked against genetics references.
Other gene pages
The gene search covers every gene Orphanet links to a rare disease.