What is SCN8A
SCN8A is an important gene in how the brain functions and variations to the SCN8A gene can have a significant impact on neurology leading often to serious hard to treat epilepsy, developmental delay and other issues.
Diagnosis is by genetic testing and the majority of cases are de novo, meaning they are not inherited from parents but appear spontaneously in the genetic make-up of the person with SCN8A (although it is sometimes inherited). This is a bit like a random glitch at an important point in a long computer code.
This rare disorder causes a range of symptoms that frequently includes severe drug resistant epilepsy with seizures that are often prolonged and typically start in the first year of life. Many children have multiple daily seizures that can lead to regular hospitalisation. There is also an elevated risk of Sudden Unexplained Death in Epilepsy (SUDEP).
Every child or adult with SCN8A is affected differently with varying severity ranging from mild behavioural or movement disorders to multiple learning disabilities with feeding and mobility challenges. Some children with SCN8A mutation may have movement disorder and/or intellectual disability without seizures.
While SCN8A is similar to the better known Dravet Syndrome (SCN1A), in that they both affect the sodium channel, the medication used to treat the syndromes are very different. In fact medication used sometimes to treat Dravet (SCN1A) can make seizures worse in SCN8A patients, so it is important for clinicians to know this. There are also notable differences between ‘Loss of Function’ and ‘Gain of Function’ SCN8A variations.
If you are caring for someone with SCN8A Contact us to join our UK family group for support and information.
Our good friends over at The Cute Syndrome Foundation, in the USA, have also provided a useful guide for clinicians and parents that can be found via the link below.