Overview
Genetic epilepsy with febrile seizures plus (GEFS+) is a spectrum of epilepsy syndromes characterized by febrile seizures in early childhood, often accompanied by afebrile seizures later in life, and associated with genetic mutations affecting neuronal excitability.Diagnosis
Key Criteria: Febrile seizures in early childhood, often with a family history of febrile seizures 5.
Recommended Tests: Routine diagnostic testing for simple febrile seizures is discouraged; complex cases may require clinical acumen for further evaluation 2.
Special Considerations: No specific genetic testing universally recommended without clinical suspicion 5.Management
First-Line Treatment: No specific first-line pharmacological treatment universally recommended for simple febrile seizures 2.
Adjunctive Treatments: Antiepileptic drugs are generally not recommended for prophylaxis in simple febrile seizures due to low yield 2.
Emergent Situations: Out-of-hospital diazepam treatment guidelines are lacking; clinical judgment is crucial 2.Special Populations
Pediatrics: Febrile seizures are more common in younger children (under 1 year), with increased risk of prolonged seizures and recurrence 5.
Comorbidities: No specific guidance provided for comorbidities; focus remains on recognizing genetic predispositions 5.Key Recommendations
Routine diagnostic testing (e.g., lumbar puncture, neuroimaging) is discouraged for simple febrile seizures due to low utility 2 (Evidence: Moderate).
Clinical judgment is essential for identifying children requiring more extensive evaluation beyond simple febrile seizures 2 (Evidence: Moderate).
Antiepileptic drugs are not routinely recommended for prophylaxis in simple febrile seizures 2 (Evidence: Moderate).
Further research is needed to establish guidelines for emergent treatments like out-of-hospital diazepam administration 2 (Evidence: Expert opinion).References
1 Guleria S, Kjaer SK, Duun-Henriksen AK, Christensen J, Soylu LÍ, Hargreave M et al.. Risk of febrile seizures among children conceived following fertility treatment: A cohort study. Paediatric and perinatal epidemiology 2020. link
2 Kimia AA, Bachur RG, Torres A, Harper MB. Febrile seizures: emergency medicine perspective. Current opinion in pediatrics 2015. link
3 Tse A, Tseng HF, Greene SK, Vellozzi C, Lee GM. Signal identification and evaluation for risk of febrile seizures in children following trivalent inactivated influenza vaccine in the Vaccine Safety Datalink Project, 2010-2011. Vaccine 2012. link
4 Schuchmann S, Hauck S, Henning S, Grüters-Kieslich A, Vanhatalo S, Schmitz D et al.. Respiratory alkalosis in children with febrile seizures. Epilepsia 2011. link
5 Farwell JR, Blackner G, Sulzbacher S, Adelman L, Voeller M. First febrile seizures. Characteristics of the child, the seizure, and the illness. Clinical pediatrics 1994. link