SCN1A-related seizure disorders

Información en español Title

Summary Summary

SCN1A-related seizure disorders is a group of diseases that includes simple febrile seizures, generalized epilepsy with febrile seizures plus, Dravet syndrome, migrating partial seizures of infancy, and intractable childhood epilepsy with generalized tonic-clonic seizures, as well as some cases of Lennox-Gastaut syndrome, West syndrome (infantile spasms) and vaccine-related encephalopathy and seizures.^[1]^[2] Signs and symptoms can vary, even among members of the same family, and may include seizures related to fever, focal convulsions (convulsions that start in one area of the brain) or generalized convulsions that can not be controlled by medication. The diseases are caused by mutations in the SCN1A gene. Inheritance is autosomal dominant, but most cases happen in those without a family history (de novo). Treatment includes the use of antiepileptic medication and ketogenic diet.^[2]

Last updated: 4/27/2016

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with SCN1A-related seizure disorders. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for SCN1A-related seizure disorders:
International Ion Channel Epilepsy Patient Registry

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Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Dravet Syndrome Foundation, Inc (DSF)
PO Box 16536
West Haven, CT 06516
Telephone: +1-203-392-1950
Fax: +1-203-907-1940
E-mail: info@dravetfoundation.org
Website: http://www.dravetfoundation.org/

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Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

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References References

SCN1A. Genetics Home Reference. April, 2016; https://ghr.nlm.nih.gov/gene/SCN1A.
Miller IO & Sotero de Menezes MA. SCN1A-Related Seizure Disorders. GeneReviews. May, 2014; http://www.ncbi.nlm.nih.gov/books/NBK1318/.

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