National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

SCN2A related disorders


Other Names:
SCN2A-related disorders; SCN2A related conditions; SCN2A-related epilepsy; SCN2A-related disorders; SCN2A related conditions; SCN2A-related epilepsy; SCN2A disorders; SCN2a mutations; SCN2A mutation See More
SCN2A related disorders are a group of epilepsy and neurodevelopmental disorders, each caused by changes (mutations) in a gene called SCN2A.[1] These disorders range from mild to severe and primarily include:[2]
  • Infantile epileptic encephalopathy (IEE) - characterized by seizures beginning in infancy (before 12 months of age) followed by developmental delay.
  • Benign (familial) infantile seizures (BISs) - characterized by seizures beginning in infancy that stop by 2 years of age, without major long-term effects.
  • Autism spectrum disorder/intellectual disability (ASD/ID) - characterized by global developmental delay (particularly of social and language skills). Up to a third of children with ASD/ID may also develop seizures in childhood, around of after 12 months of age.

Signs and symptoms depend on the specific condition and severity in each person. Some children with an SCN2A related disorder do not fit directly into one of these major forms.[2] Most children with SCN2A mutations will have seizures that start in the first few weeks of life. Other symptoms of an SCN2A related disorder may include feeding or gastrointestinal problems, developmental delay, movement disorders, and/or poor muscle tone (hypotonia).[3]

SCN2A mutations may be inherited from a parent or may occur for the first time in a child with an SCN2A related disorder (a de novo mutation). Treatment depends on symptoms and severity, but often includes antiepileptic drugs (AEDs).[3] Unfortunately, in many cases, seizures associated with SCN2A related disorders cannot be controlled, even with the use of multiple AEDs. However, for infants who begin to have seizures within 3 months of birth, nonselective sodium channel blockers (such as phenytoin and carbamazepine) are more effective. Treatment for global developmental delay, ASD, and other associated signs and symptoms follow standard management recommendations.[2]
  
 
Last updated: 6/6/2018

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 SCN2A related 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 SCN2A related disorders:
    International Ion Channel Epilepsy Patient Registry
    Simons SearchLight
     

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

Social Networking Websites

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.

Where to Start

  • Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about SCN2A related disorders.

Selected Full-Text Journal Articles

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  1. Wolff M, Johannesen KM, Hedrich UB. Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. Brain. March 4, 2017; [Epub ahead of print]:https://www.ncbi.nlm.nih.gov/pubmed/28379373.
  2. Sanders SJ, Campbell AJ, Cottrell JR, et al. Progress in Understanding and Treating SCN2A-Mediated Disorders. Trends in Neurosciences. 2018; [Epub ahead of print]:https://docs.wixstatic.com/ugd/59e4a2_b573b7558fdd4123bc9b2e10e0a3f11f.pdf.
  3. SCN2A related conditions. Unique. 2016; http://www.rarechromo.org/information/Chromosome%20%202/SCN2A%20related%20conditions%20FTNW.pdf.