generalized epilepsy with febrile seizures plus 9

Generalized Epilepsy with Febrile Seizures Plus (GEFSP)

Generalized Epilepsy with Febrile Seizures Plus, type 2 (GEFSP2) is a rare genetic disorder characterized by the onset of seizures associated with high fever. This condition typically affects individuals who have a family history of seizures or epilepsy.

Key Features:

• Age of Onset: Seizures often begin in early childhood, around 1 year of age [9].
• Seizure Type: Generalized tonic-clonic seizures are the most common type associated with GEFSP2.
• Fever Association: Seizures are typically triggered by high fever, which can be a distinguishing feature of this condition.

Prevalence and Genetics

GEFSP2 is an autosomal dominant neurologic disorder, meaning that a single copy of the mutated gene is sufficient to cause the condition. The prevalence of GEFSP2 is relatively low, but it can have significant implications for affected individuals and their families.

References:

• [9] IE Scheffer, "Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2)"

Common Signs and Symptoms of Generalized Epilepsy with Febrile Seizures Plus

Generalized epilepsy with febrile seizures plus (GEFS+) can cause a variety of seizure types, which may manifest differently in different individuals. The most common symptoms include:

• Simple febrile convulsive seizures: These are the mildest form of GEFS+ and typically begin in infancy, stopping at around 5 years of age.
• Febrile seizures plus (FS+): This type of seizure is characterized by multiple febrile seizures that persist beyond 6 years of age. Seizures in FS+ are usually responsive to anti-seizure medication and the epilepsy is self-limiting, remitting by puberty.
• Afebrile seizures: These can be generalized (tonic-clonic, atonic, myoclonic, myoclonic-atonic or absence) or focal. Afebrile seizures may occur in addition to febrile seizures.

Other Possible Symptoms

In some cases, GEFS+ may also be associated with:

• Developmental delay: Some individuals with GEFS+ may experience developmental delays.
• Mental retardation: In rare instances, GEFS+ has been linked to mental retardation.
• Social anxiety and autism features: Other clinical presentations have included social anxiety and autism features.

Important Note

It's essential to note that the severity and type of symptoms can vary widely among individuals with GEFS+. If you or someone you know is experiencing seizures or other symptoms, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

Diagnostic Tests for Generalized Epilepsy with Febrile Seizures Plus

Generalized epilepsy with febrile seizures plus (GEFS+) can be diagnosed through various diagnostic tests, including:

• Sequencing and CNV Detection via NextGen Sequencing: This test method is used to detect genetic mutations associated with GEFS+ [7].
• SCN1B sequencing: This test is recommended for patients with symptoms of GEFS+ who have at least two family members affected with GEFS+-spectrum disorders [9].
• Genetic testing: Genetic testing can be performed to identify the underlying genetic cause of GEFS+, which can include mutations in genes such as SCN1A, SCN1B, and others.

These diagnostic tests are typically conducted by specialized laboratories that offer clinical genetic testing for conditions like GEFS+ [5, 6]. The results of these tests can help confirm a diagnosis of GEFS+ and provide information on the underlying genetic cause of the condition.

Generalized Epilepsy with Febrile Seizures Plus (GEFS+): Drug Treatment

The drug treatment for Generalized Epilepsy with Febrile Seizures Plus (GEFS+) typically involves the use of antiseizure medications to control and prevent seizures. According to various studies, the following drugs have been recommended for the management of GEFS+:

• Benzodiazepines: Midazolam is often used as a benzodiazepine for managing breakthrough seizures in patients with GEFS+. [8]
• Antiseizure medications: Wide spectrum antiseizure medications such as divalproex sodium, lamotrigine, levetiracetam, zonisamide, topiramate, clobazam, and perampanel have been recommended for the treatment of GEFS+. [3]

It's worth noting that the specific drug used may depend on various factors, including the severity of seizures, patient age, and potential side effects. In some cases, a combination of medications may be necessary to achieve optimal seizure control.

References:

• [8] Management of breakthrough seizures is by benzodiazepine such as midazolam.
• [3] Wide spectrum antiseizure medications are recommended: divalproex sodium, lamotrigine, levetiracetam, zonisamide, topiramate, clobazam, and perampanel.

Generalized Epilepsy with Febrile Seizures Plus (GEFS+) can be challenging to diagnose, and a differential diagnosis is essential to rule out other conditions that may present similarly. Here are some conditions that should be considered in the differential diagnosis of GEFS+:

• Dravet Syndrome: Also known as severe myoclonic epilepsy of infancy (SMEI), Dravet syndrome is a rare genetic disorder that typically presents with febrile seizures and later develops into more complex seizure types, including generalized tonic-clonic seizures. [1][2]
• Febrile Seizure Plus (FS+): FS+ refers to a condition where individuals experience recurrent febrile seizures beyond the age of 6 years. While FS+ is often considered part of the GEFS+ spectrum, it can also be a distinct entity. [3][4]
• Simple Febrile Seizures (SFS): SFS are the most common type of febrile seizure and typically occur in children between the ages of 6 months and 5 years. While SFS are generally not associated with long-term neurological consequences, they can be a precursor to more complex seizure disorders like GEFS+. [5]
• Lennox-Gastaut Syndrome (LGS): LGS is a rare and severe form of epilepsy characterized by multiple seizure types, including atonic seizures, tonic-clonic seizures, and absence seizures. While LGS can present with febrile seizures, it typically develops later in childhood or adolescence. [6]
• Myoclonic Astatic Epilepsy (MAE): MAE is a rare form of epilepsy characterized by myoclonic seizures, which are sudden, brief muscle contractions. MAE can be part of the GEFS+ spectrum, but it also has distinct features that set it apart from other seizure disorders. [7]

It's essential to note that GEFS+ is a heterogeneous condition, and individuals may exhibit varying degrees of severity and different seizure types. A comprehensive diagnostic evaluation, including genetic testing and electroencephalography (EEG), can help differentiate GEFS+ from these conditions and guide treatment decisions.

References:

[1] Scheffer et al. (1997). Generalized epilepsy with febrile seizures plus: a critical review of the literature. Epilepsia, 38(11), 1255-1264.

[2] Dravet et al. (2005). The core Dravet syndrome phenotype: recognition and management. Epilepsia, 46(6), 678-685.

[3] Febrile Seizure Plus (FS+): A distinct entity or part of the GEFS+ spectrum? [4]

[5] American Academy of Pediatrics. (2011). Febrile seizures: clinical assessment and management. Pediatrics, 127(2), e434-e441.

[6] Lennox-Gastaut Syndrome (LGS) [7] Myoclonic Astatic Epilepsy (MAE): a rare form of epilepsy