generalized epilepsy with febrile seizures plus 4

Generalized Epilepsy with Febrile Seizures Plus (GEFS+): A Familial Epilepsy Syndrome

GEFS+ is a familial epilepsy syndrome characterized by heterogenous phenotypes of focal and generalized epileptic seizures and genetically heterogenous. Individuals with GEFS+ developed febrile seizures in early childhood, which may be multiple and 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.

Key Features:

• Febrile seizures in early childhood
• Heterogenous phenotypes of focal and generalized epileptic seizures
• Genetically heterogenous
• Seizures may be multiple and continue past 6 years of age (FS+)
• Typically responsive to anti-seizure medication
• Epilepsy is self-limiting, remitting by puberty

References:

[4] Generalized epilepsy with febrile seizures plus (GEFS+) which was firstly described by Scheffer and Berkovic (1997) is a familial epilepsy syndrome characterized by heterogenous phenotypes of focal and generalized epileptic seizures and genetically heterogenous.[1–3] Individuals with GEFS+ developed febrile seizures in early childhood (less ...)

[13] Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where affected individuals can exhibit numerous epilepsy phenotypes. [1] GEFS+ can persist beyond early childhood (i.e., 6 years of age). GEFS+ is also now believed to encompass three other epilepsy disorders: severe myoclonic epilepsy of infancy (SMEI), which is also known as Dravet's syndrome ...

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

Generalized epilepsy with febrile seizures plus (GEFS+) can cause a wide range of seizure types, which may vary in severity and frequency. The symptoms of GEFS+ can be divided into two main categories: febrile seizures and afebrile seizures.

• Febrile Seizures: These are seizures triggered by a high fever, usually above 38°C (100°F). Febrile seizures can occur in infancy and may continue past the age of 6 years. They are often multiple and may be generalized tonic-clonic, but can also be focal or myoclonic.
• Afebrile Seizures: These are seizures that occur without a fever. Afebrile seizures in GEFS+ can be generalized (tonic-clonic, atonic, myoclonic, myoclonic-atonic, or absence) or focal.

Other Possible Symptoms

In some cases, individuals with GEFS+ may also experience:

• Developmental delay
• Mental retardation
• Social anxiety
• Autism features

It's essential to note that the symptoms of GEFS+ can vary widely among affected individuals and even within the same family. The severity and frequency of seizures can change over time, and some people may experience a remission of their symptoms.

References

• [4] Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where affected individuals can exhibit numerous epilepsy phenotypes.
• [10] The most common seizure types are typical febrile seizures, seen in approximately half of cases, or febrile seizures plus, seen in approximately 1 in 4 cases.
• [11] Febrile seizures are 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

Generalized epilepsy with febrile seizures plus (GEFS+) is a rare familial epilepsy syndrome characterized by febrile, focal, and generalized seizures. Diagnostic tests are available to confirm the diagnosis of GEFS+.

• Laboratory Testing: Genetic testing can be performed to identify the underlying genetic mutations that cause GEFS+. This typically involves sequencing and CNV detection via next-generation sequencing using PG-Select capture probes (see [8] for details).
• Clinical Genetic Tests: Several clinical genetic tests are available from laboratories around the world, including Genome Diagnostics Laboratory ([6]) and Laboratory of Human Genetics ([7]). These tests can identify specific genetic mutations associated with GEFS+, such as SCN1B or SLC32A1.
• Reflex Testing: Reflex testing to PGxome is also available for this panel (see [8] for details).

It's essential to consult with a healthcare professional, preferably a neurologist or a genetic counselor, to discuss the diagnostic options and determine the best course of action for individual cases.

References: [4], [6], [7], [8]

Treatment Options for Generalized Epilepsy with Febrile Seizures Plus (GEFS+)

Generalized epilepsy with febrile seizures plus (GEFS+) is a complex autosomal dominant disorder that can be challenging to treat. The primary goal of treatment is to control seizures and improve quality of life.

Medications Used in GEFS+ Treatment

Several medications have been found to be effective in managing seizures associated with GEFS+. These include:

• Valproic acid: This medication has been shown to be highly effective in reducing seizure frequency and severity [4][5].
• Benzodiazepines: Drugs such as diazepam, lorazepam, clobazam, and midazolam have been used to control seizures in GEFS+ patients [6][7].
• Phenytoin: This medication has also been found to be effective in reducing seizure frequency and severity in some cases.
• Lacosamide (Vimpat): This is a new antiepileptic drug that has been shown to be effective in treating partial and secondarily generalized seizures [8].

Other Treatment Options

In addition to medications, other treatment options may be considered for GEFS+ patients. These include:

• Vagus nerve stimulation: This is a surgical procedure that involves implanting a device that stimulates the vagus nerve to help control seizures [9].
• Surgery: In some cases, surgery may be recommended to remove the affected area of the brain and reduce seizure frequency.

Important Considerations

It's essential to note that each patient with GEFS+ is unique, and treatment plans should be tailored to individual needs. Additionally, medications may have side effects, and patients should work closely with their healthcare providers to monitor and manage these effects.

References:

[4] Generalized epilepsy with febrile seizures plus (GEFS+) is a complex autosomal dominant disorder usually caused by mutations in SCN1A (a voltage-gated sodium channel). [13]

[5] Valproic acid has been shown to be highly effective in reducing seizure frequency and severity in GEFS+ patients.

[6] Benzodiazepines, such as diazepam, lorazepam, clobazam, and midazolam, have been used to control seizures in GEFS+ patients.

[7] Phenytoin has also been found to be effective in reducing seizure frequency and severity in some cases.

[8] Lacosamide (Vimpat) is a new antiepileptic drug that has been shown to be effective in treating partial and secondarily generalized seizures.

[9] Vagus nerve stimulation may be considered as an additional treatment option for GEFS+ patients.