Generalized epilepsy with febrile seizures plus
Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by a spectrum of seizure types, including febrile seizures and afebrile seizures. It is a genetic disorder that typically begins in infancy or early childhood and can persist into adulthood.
Clinical Features[edit | edit source]
GEFS+ is marked by a variety of seizure types:
- Febrile seizures: Seizures associated with fever, typically occurring in children between the ages of 6 months and 5 years.
- Generalized tonic-clonic seizures: Seizures that involve the entire body, characterized by muscle rigidity and convulsions.
- Myoclonic seizures: Brief, shock-like jerks of a muscle or group of muscles.
- Absence seizures: Brief episodes of staring and unresponsiveness.
Genetics[edit | edit source]
GEFS+ is primarily inherited in an autosomal dominant manner, meaning a single copy of the altered gene in each cell is sufficient to cause the disorder. Several genes have been implicated in GEFS+, including:
Mutations in these genes affect the function of ion channels, which are crucial for the proper transmission of electrical signals in the brain.
Diagnosis[edit | edit source]
The diagnosis of GEFS+ is based on clinical evaluation, family history, and genetic testing. Electroencephalography (EEG) may show generalized spike-and-wave or polyspike-and-wave discharges.
Treatment[edit | edit source]
Treatment for GEFS+ typically involves antiepileptic drugs (AEDs) to control seizures. The choice of medication depends on the type of seizures and the patient's response to treatment. Commonly used AEDs include:
Prognosis[edit | edit source]
The prognosis for individuals with GEFS+ varies. Some individuals may experience a reduction in seizure frequency or even remission, while others may continue to have seizures into adulthood. Early diagnosis and appropriate treatment are crucial for managing the condition.
Related Pages[edit | edit source]
- Epilepsy
- Febrile seizures
- Generalized tonic-clonic seizure
- Myoclonic seizure
- Absence seizure
- SCN1A
- SCN1B
- GABRG2
References[edit | edit source]
External Links[edit | edit source]
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Contributors: Prab R. Tumpati, MD