What is a syndrome?
A syndrome is a group of signs and symptoms that, added together, suggest a particular medical condition. In epilepsy, examples of these signs and symptoms would be things like the age at which seizures begin, the type of seizures, whether the child is male or female and whether they have physical or learning disabilities, or both. The results of an electroencephalogram (EEG) are also used to help identify epilepsy syndromes.
If you would like to know more about an epilepsy syndrome, please speak to your doctor. If you would like to know more about epilepsy in general, please contact Epilepsy Action.
Other names for generalised epilepsy with febrile seizures plus (GEFS+)
Genetic epilepsy with febrile seizures plus
Generalised epilepsy with febrile seizures plus (GEFS+)
Generalised epilepsy with febrile seizures plus (GEFS+) is an unusual epilepsy syndrome. It describes families who have several members from different generations with different types of epileptic seizures and even different epilepsy syndromes. The epileptic seizures nearly always start in a family member who has had febrile convulsions.
Febrile convulsions are seizures associated with a high temperature. Usually febrile convulsions stop after the age of 6 years. In GEFS+ families, children may go on to have febrile seizures well beyond this age, even into adult life. They may also develop other seizure types not associated with a high temperature. Very rarely, there may be a family member with a very severe type of epilepsy called Dravet syndrome or a less severe type, myoclonic-astatic epilepsy (Doose syndrome). Dravet syndrome used to be called severe myoclonic epilepsy in infancy (SMEI).
GEFS+ has only recently been described as an epilepsy syndrome in its own right. Some people with GEFS+ are found to have a specific fault, called a ‘mutation’, in their genes. The gene that is commonly at fault is the SCN1A gene but other genes may also be at fault. This is providing a lot of interest in and information on the genetic basis of many different types of epilepsy.
The seizure types in this syndrome vary from person to person. They may include febrile seizures (febrile convulsions); febrile seizures plus; tonic-clonic seizures; absence seizures; myoclonic seizures; atonic seizures (drop attacks); and focal (partial) seizures.
Febrile seizures (febrile convulsions)
These seizures nearly always happen during a period of illness, such as a viral infection. They are associated with a high temperature. The seizures are usually tonic-clonic seizures lasting less than 5 minutes. Sometimes the seizures can last longer and need emergency medical treatment. The normal age range for this type of seizure is 6 months to 6 years. Although most children only have a small number of seizures (fewer than 5), some children have frequent febrile seizures throughout early childhood.
Febrile seizures plus
This is similar to febrile seizures, but the child has seizures beyond the normal age range. Again, the seizures are always associated with a high temperature. The seizures usually stop by the time the child reaches the age of 10 or 12.
The majority of people with GEFS+ have normal intelligence and learning abilities. However those with myoclonic-astatic epilepsy, and particularly Dravet syndrome, may have varying degrees of learning difficulties and behavioural problems. They may also have autistic features.
GEFS+ is usually identified when the doctor takes a careful family history from someone who has febrile seizures outside the normal age range. This may involve talking to immediate family members, particularly to grandparents, who may remember their children or nieces and nephews having febrile convulsions or other types of seizures as a child.
There have been a number of small genetic abnormalities found in some families with GEFS+. The abnormalities can be found in a simple blood test. These tests are becoming routinely available in most parts of the UK.
Treatment very much depends on the seizure type or types each person has. For children (and adults) who only have febrile convulsions, regular treatment with epilepsy medicines is not usually required. However, families may be provided with rescue (emergency) medicine if their child has already had a prolonged febrile convulsion and needed rescue or emergency medicine given by paramedics or the hospital. People who have other seizures not associated with a high temperature may be prescribed epilepsy medicines such as sodium valproate (Epilim), levetiracetam (Keppra), lamotrigine (Lamictal), ethosuximide (Zarontin) and clobazam (Frisium).
In the rare cases where children have more severe forms of epilepsy, such as myoclonic- astatic epilepsy or Dravet syndrome, children may need combinations of epilepsy medicines to treat seizures. A medicine called stiripentol (Diacomit) may be particularly effective in Dravet syndrome, when used in combination with sodium valproate and clobazam.
Information about treatments for children can be found on the Medicines for Children website.
There may be research studies open that are relevant to this epilepsy syndrome. Your child’s doctor will be able to discuss this with you.
If your child has this syndrome they may have prolonged or repeated seizures. Your child’s doctor will discuss a ‘rescue’ or emergency care plan with you to treat any prolonged or repeated seizures.
The outlook depends on the child’s seizure types. Febrile convulsions usually stop after the age of 6 years. Some children and adults may have febrile seizures past the age of 6 years, though they usually become much less frequent. Most will stop having seizures before the child reaches puberty. With other children, the outlook is more varied. The majority will have their seizures well controlled with epilepsy medicines, and their seizures may stop in late childhood/early teenage years. However in some cases of myoclonic-astatic epilepsy, and in most cases of Dravet’s syndrome, the seizures are difficult to treat. They are usually lifelong (although becoming less frequent through adolescence) and are usually associated with learning and behaviour difficulties.
Epilepsy Action would like to thank Drs Richard Appleton and Rachel Kneen (at Alder Hey Children’s Hospital, Liverpool) and Stewart Macleod (at Yorkhill Children’s Hospital, Glasgow), consultants who specialise in children’s epilepsy, who have updated this fact sheet.