What is SCN2A?

What is SCN2A (600 x 600 px)

What is SCN2A?

  • SCN2A is a gene.
  • It tells the body to produce a protein called Nav1.2.

What does Nav1.2 do?

  • Nav1.2 is an important sodium channel in the brain.

  • This channel lets a chemical called sodium into brain cells (neurons).

  • The movement of sodium tells the neurons to ‘fire’, which sends messages between neurons and to the rest of the body.

How do changes in the SCN2A gene affect Nav1.2?

Changes in the genetic code of the SCN2A gene can affect the way the Nav1.2 channel works.

  • If the channel lets in more sodium than usual, it may become overactive.
    • An overactive channel can cause brain cells to fire more frequently than usual. More messages are sent.
    • Changes in SCN2A that cause the channel to become more active are called gain of function variants.
  • If the channel lets in less sodium than usual, it may become underactive.
    • An underactive channel can cause brain cells to fire less frequently than usual. Fewer messages are sent.
    • Changes in SCN2A that cause the channel to become less active are called loss of function variants.

What impact could this have?

  • A change in the SCN2A gene can cause a range of conditions that affect the way the brain works (neurodevelopmental conditions).
  • Some individuals are more affected than others.
  • Symptoms include:
    • Seizures
    • Developmental delay and/or intellectual disability
    • Movement disorders
    • Autism spectrum disorder (ASD)
    • Gastrointestinal problems (e.g. constipation, reflux)
    • Problems with sleep.

Therapy/Treatment options for SCN2A

  • No treatment is currently available that can cure an individual with an SCN2A-related condition.
  • Individuals with SCN2A usually need to see many different healthcare professionals at different times.
  • Management by a neurologist is recommended for individuals with epilepsy and/or movement disorders.
  • Early intervention programs, occupational therapy and speech therapy are valuable for individuals with developmental delay / intellectual disability and/or autism spectrum disorder (ASD).
  • The choice of anti-seizure medication is important. Certain medications can make seizures worse in some individuals.
 
Individuals with SCN2A-related conditions usually receive many different types of treatment, including antiseizure medications, early intervention programs, and occupational or speech therapy.

Information Sheet

What is SCN2A?

Find out all the facts about SCN2A

SCN2A Clinical Trials Information Sheets

English

Korean

Chinese

Hindi​

Japanese