generalized epilepsy with febrile seizures plus 8

Generalized Epilepsy with Febrile Seizures Plus (GEFS+), Type 2

Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2) is an autosomal dominant neurologic disorder characterized by the onset of seizures associated with fever in early childhood. This condition is similar to GEFS+ but has distinct characteristics.

Key Features:

• Seizures are typically generalized tonic-clonic
• Patients can also experience absence, myoclonic, atonic, myoclonic-atonic, or focal seizures
• Onset of seizures usually occurs before age 3 years
• Most patients have remission of seizures later in childhood with no residual effects

Citations:

• [8] Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2) is an autosomal dominant neurologic disorder characterized by the onset of seizures associated ...
• [13] Generalized epilepsy with febrile seizures plus-9 is an autosomal dominant neurologic disorder characterized by onset of febrile and/or afebrile seizures in early childhood, usually before age 3 years.

Common Signs and Symptoms of Generalized Epilepsy with Febrile Seizures Plus (GEFS+)

The most common and mildest feature of GEFS+ symptoms is a simple febrile convulsive seizure, which begins in infancy and usually stops at 5 years of age. When this type of seizure occurs, it is often multiple and may continue past 6 years of age, known as febrile seizures plus (FS+). These seizures are typically responsive to anti-seizure medication (if used), and the epilepsy is self-limiting, remitting by puberty.

Other Possible Seizure Types

In addition to febrile seizures, patients with GEFS+ can also experience:

• Generalized tonic-clonic seizures
• Absence seizures
• Myoclonic seizures
• Atonic seizures
• Myoclonic-atonic seizures
• Focal seizures

These seizure types may occur in various combinations and can be influenced by factors such as fever, stress, or other triggers.

References

[8] The most common and mildest feature of GEFS+ symptoms is a simple febrile convulsive seizure, which begins in infancy and usually stops at 5 years of age. When this type of seizure occurs, it is often multiple and may continue past 6 years of age (FS+). Seizures in FS+ are typically responsive to anti-seizure medication (if used), and the epilepsy is self-limiting, remitting by puberty.

Diagnostic Tests for Generalized Epilepsy with Febrile Seizures Plus

According to the available information, diagnostic tests are not typically required for children who have simple febrile seizures. However, if a child has recurrent or persistent seizures beyond the age of 6 years, further evaluation may be necessary.

• Routine Diagnostic Testing: Children with simple febrile seizures who are well-appearing do not require routine diagnostic testing, such as laboratory tests or neuroimaging (Source: [8])
• Clinical Evaluation: If a child has recurrent or persistent seizures beyond the age of 6 years, a clinical evaluation by a pediatrician or a specialist in epilepsy may be necessary to determine the underlying cause of the seizures.
• Genetic Testing: Genetic testing may be considered for families with a history of generalized epilepsy with febrile seizures plus (GEFS+), as this condition is often inherited. However, genetic testing is not typically recommended for children who have had only one or two febrile seizures.

It's essential to note that the decision to perform diagnostic tests should be made on an individual basis and in consultation with a healthcare professional. The goal of diagnostic testing is to identify any underlying conditions that may be contributing to the seizures, and to develop an appropriate treatment plan.

References:

• [8] Smith DK. Febrile Seizures. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2023:chap e2.
• [14] Diagnostic tests Laboratories; Diagnostic tests ...

Management of Generalized Epilepsy with Febrile Seizures Plus

Generalized epilepsy with febrile seizures plus (GEFS+) is a spectrum of seizure disorders that can be challenging to manage. While there is no cure for GEFS+, various medications can help control the symptoms and prevent seizures.

• Phenobarbital: This medication has been widely used in the treatment of children with febrile seizures, including those with GEFS+ [1]. However, its use has declined due to concerns about side effects and the availability of newer antiepileptic drugs.
• Benzodiazepines: Medications like midazolam can be effective in managing breakthrough seizures in patients with GEFS+ [5].
• Valproic acid (VPA): This medication has been shown to be effective in treating febrile seizures plus and other forms of epilepsy, including generalized epilepsy [8].
• Levetiracetam (LEV): Studies have demonstrated that LEV treatment can lead to favorable 6-month treatment outcomes in patients with GEFS+ and other forms of epilepsy [8].

Important Considerations

When managing GEFS+, it is essential to consider the individual patient's needs and medical history. A home rescue medication, such as rectal or nasal diazepam or buccal/nasal midazolam, can be beneficial in emergency situations [6]. Additionally, a Seizure Action Plan should be developed for each patient to ensure prompt and effective treatment.

References

[1] by M Offringa · 2017 · Cited by 291 — On average, eight children would have to be treated with phenobarbital for two years continuously to prevent one febrile seizure (number needed to treat (NNT) 8 ...

[5] Management of breakthrough seizures is by benzodiazepine such as midazolam.

[6] All patients with Dravet syndrome should have a home rescue medication (such as rectal/nasal diazepam or buccal/nasal midazolam, and a Seizure Action Plan.

[8] Valproic acid (VPA) and Levetiracetam (LEV) treatment can lead to favorable 6-month treatment outcomes in patients with GEFS+ and other forms of epilepsy.

Differential Diagnoses for Generalized Epilepsy with Febrile Seizures Plus (GEFS+)

Generalized Epilepsy with Febrile Seizures Plus (GEFS+) is a genetic disorder characterized by onset of seizures associated with fever in infancy or early childhood. When diagnosing GEFS+, it's essential to consider other conditions that may present similarly. Some differential diagnoses for GEFS+ include:

• Self-limited familial infantile seizures: This condition is caused by mutations in the PRRT2 gene and typically presents with febrile seizures in infancy.
• Dravet Syndrome: Also known as severe myoclonic epilepsy of infancy (SMEI), Dravet syndrome is a rare genetic disorder that causes severe, life-threatening seizures often triggered by fever. It's caused by mutations in the SCN1A gene.
• Myoclonic Astatic Epilepsy (MAE): MAE is a rare form of epilepsy characterized by myoclonic and atonic seizures. While it can occur in isolation, it may also be associated with GEFS+.
• Lennox-Gastaut Syndrome: This is a severe form of epilepsy that typically presents in childhood, characterized by multiple seizure types, including tonic-clonic, atonic, and absence seizures.
• Infantile Spasms: Also known as West syndrome, infantile spasms are a type of seizure disorder that typically occurs in infancy or early childhood.
• Epilepsy with Focal Seizures: This condition is characterized by seizures that affect one part of the brain, often presenting with focal symptoms such as weakness or numbness on one side of the body.

These conditions may present similarly to GEFS+, and a comprehensive diagnostic evaluation is necessary to determine the underlying cause of seizures in an individual.