Other Genetic Early Infantile Epilepsies
There are many other types of medically refractory epilepsy which begin in infancy and early childhood, impacting on neurodevelopment.
The term commonly used in the medical literature is “Developmental Epileptic Encephalopathy”.
Other relatively common implicated genes in severe childhood epilepsies (but not as common as SCN1A), include SCN2A, KCNQ2, KCNQ3, KCNT1, PCDH19, CDKL5, KCNB1, DNM1, STXBP1, ARX.
These share some common features, with developmental delay and intellectual difficulty common across different early infantile genetic epilepsies. They can also have associated behavioural problems, movement disorders and other neurological problems.
Receiving a diagnosis
Receiving a diagnosis of Dravet Syndrome or other severe genetic epilepsy for your child can be a very difficult and overwhelming time. If you would like to chat to another parent who has been through this process please contact us and we will arrange a call.
As parents of children with a diagnosis ourselves, we have found contact with other families invaluable at times.
We have a private Facebook support group for parents and caregivers. Find out more here.