Genetic Epilepsy with Febrile Seizures Plus (GEFS+) is one of the more unusual epilepsy syndromes as it describes families who have a generational history of different types of seizures in several members. What this means is that there is an extensive family history of epilepsy and seizures, but not necessarily all of the same type. However, in all family members the seizures will usually begin with febrile seizures.
Febrile seizures are those that are associated with a high temperature. These seizures will usually cease once the child reaches the age of 5 or 6, however, children with GEFS+ may continue to have febrile seizures beyond these ages and into their adult life.
Other seizure types may also develop, which are usually generalised and focal in nature. Very rarely, there may even be a family member who has Dravet syndrome, which is a very severe epilepsy syndrome, so much so that it used to be called severe myoclonic epilepsy in infancy (SMEI).
GEFS+ is believed to be caused by a genetic mutation, and some people with GEFS+ have been found to have a specific mutation in the SCN1A gene, although other genes may have a fault.
As people with GEFS+ syndrome can have a variety of syndromes, there are no particular symptoms associated. People with GEFS+ can experience all types of seizures, including febrile, tonic-clonic, absence, myoclonic, atonic and focal (partial).
Diagnosis of GEFS+ can really only be made from a careful family history. Speaking with parents and grandparents to ascertain if there is a family history of febrile seizures would be the most likely way that a healthcare professional could arrive at this conclusion.
Blood tests can be undertaken to look for specific genetic mutations that are associated with GEFS+. Mutations have been found on genes including SCNIA, SCNIB and GABRG2, although it’s almost certain that other mutations will exist.
The treatment options prescribed will likely be dependent on the type of seizure each person with GEFS+ has. In some cases, epilepsy medication may not even be required. A treatment option will be undertaken that takes into account each individual person and their specific needs to help them manage the seizures they are experiencing.
Again, as is the case with treatment and symptoms, a prognosis is difficult with this particular syndrome as each case can be quite unique. However, febrile seizures in the majority of cases will cease, usually around the age of 6 years. In some cases, febrile seizures will continue on past this stage and into adulthood, but when this happens they are usually greatly reduced in frequency.
In most cases, seizures will be controlled by epilepsy medications with a good chance to have them fully controlled or ceased altogether in late childhood or the early teenage years. In a smaller number of cases, especially those with Dravet syndrome, the seizures will be difficult to treat and are commonly associated with lifelong learning and behavioural difficulties.