SCN2A related disorders

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]
  
 

News

• Rare Disease Day at NIH 2021
  March 1, 2021

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