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What difference will this discovery make?

by — Last updated: 2013-07-26 in Children's & Teens Health

Table of Contents

New genes associated with a devastating seizure disorder affecting babies and children have recently been discovered. This may enable parents to benefit from genetic counselling as well as lead to better diagnosis and treatment of these conditions.
Knowing where the disorder originates could lead to the development of targeted therapies, aimed at the faulty genes. It will also improve diagnosis of this condition.  
Because there are so many different types of epilepsy and because of the difficulty in diagnosing conditions in very young children, there may have been delays in the past in giving parents a diagnosis, which can be very unsettling for them. 

Read More: Epilepsy: Seizures When Sleeping

In addition until a firm diagnosis can be made, it is difficult to give parents a prognosis ie tell them what the child’s future may hold, or to give appropriate treatment.

But as a result of these discoveries, in the future children with epileptic disorders can be tested for the presence of the faulty genes, to assist in diagnosis.

The lead researcher, professor Ingrid Scheffer commented :

‘This is a very exciting breakthrough which could lead to dramatic benefits in the lives of the children who suffer this condition.’

Genetic counseling

Parents of affected children will also be able to benefit from genetic counseling as a result of these discoveries.  This means that even before birth a fetus could be tested for the presence of the faulty gene so that parents would have warning that their child could have the disorder. If appropriate, those with the disorder could also receive counseling about the risk of passing it on.

Prof. Scheffer said: ‘Overall, our findings have important implications for making a diagnosis in patients, optimizing therapy and genetic counseling for families.’

What is epilepsy?

It is a brain disorder associated with seizures (fits), although not all seizures are caused by problems in the brain. 

Our brain is packed with nerve cells (neurones), which transmit electrical impulses so that messages that arrive in the brain from part of our body, for example telling you that you have a pain in the sole of your foot, are passed to the relevant parts of the brain.   In this case the message would activate parts of the brain associated with feeling pain but also to the part for movement (the motor cortex) which can send a message to the leg to say ‘Move the foot off that drawing pin’!

In epilepsy if these messages are either disrupted or too many sent at once, there can be a ‘storm’ of electrical activity, resulting in a seizure.
Many people think of these as consisting of very violent uncontrolled movements leading to the person collapsing and being unconscious.  The fact is that there are many different types of seizure, and they vary from the violent physical fits just described, to what used to be called ‘absence seizures’ where a person (usually a child) can merely appear as if they are daydreaming and not quite ‘with it’.

What causes epilepsy?

In the case of the type of epilepsy highlighted in this article, it is caused by faulty genes. But epilepsy can also be caused by other medical conditions (when it is called ‘symptomatic’) such as brain tumors, infections, multiple sclerosis or systemic lupus erythematosus.  Other times the cause is not known (when it is termed ‘idiopathic’). It most commonly occurs in children and older people and unlike the type featured in this article, does not lead to brain damage, even in children.

Can it be treated?

Yes, there are drugs which can reduce the number of seizures and sometimes suppress them all together. Alternatively, some people manage their epilepsy by working out what triggers the seizures and avoiding it e.g. food, flashing lights, lack of sleep or stress.

  • www.epilepsysociety.org.uk/AboutEpilepsy/Whatisepilepsy?gclid=CNCH1q7zxbgCFY7LtAodAlMA1w
  • www.patient.co.uk/health/Epilepsy-A-General-Introduction.htm