generalized epilepsy with febrile seizures plus 2

Generalized Epilepsy with Febrile Seizures Plus (GEFSP2) Description

Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2) is a rare autosomal dominant neurologic disorder characterized by the onset of seizures associated with fever in the first months or years of life [1]. This condition is part of a spectrum of seizure disorders known as genetic epilepsy with febrile seizures plus (GEFS+) [2].

Key Features:

• Seizures associated with fever: Affected individuals experience various types of febrile and afebrile seizures, including generalized tonic-clonic seizures (GTCS) [1].
• Autosomal dominant inheritance: GEFSP2 is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition [3].
• Variable severity: The severity and type of seizures can vary significantly among affected individuals [4].

Other related conditions:

GEFSP2 is part of a larger syndrome known as genetic epilepsy with febrile seizures plus (GEFS+), which encompasses three other epilepsy disorders: * Severe myoclonic epilepsy of infancy (SMEI), also known as Dravet's syndrome * Other focal and generalized epileptic seizure phenotypes [5]

Citations:

[1] - From OMIM 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 the first months or years of life. [2] - Genetic epilepsy with febrile seizures plus (GEFS+) is a spectrum of seizure disorders of varying severity. [3] - Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where affected individuals can exhibit numerous epilepsy phenotypes. [4] - Generalized epilepsy with febrile seizure 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. [5] - Genetic epilepsy with febrile seizures plus (GEFS+) is an unusual epilepsy syndrome. It usually affects several members of the same family.

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

Generalized epilepsy with febrile seizures plus (GEFS+) is a rare genetic disorder that can cause various types of seizures. The symptoms and signs of GEFS+ can vary from person to person, but here are some common ones:

• Febrile Seizures: These are the most common type of seizure in people with GEFS+. They occur when a person has a fever, usually above 38°C (100°F), and can cause muscle contractions or convulsions.
• Myoclonic Seizures: These seizures cause involuntary muscle twitches or jerks. They can be brief and may not always be noticeable.
• Atonic Seizures: Also known as "drop attacks," these seizures involve a sudden loss of muscle tone, causing the person to fall or become limp.
• Absence Seizures: These seizures cause brief periods of loss of consciousness, often accompanied by staring spells.

Other Possible Symptoms

In some cases, people with GEFS+ may experience other symptoms, such as:

• Focal Clonic Seizures: These seizures affect one side of the body and can cause muscle contractions or convulsions.
• Generalized Tonic-Clonic Seizures: These seizures involve both sides of the brain and can cause muscle contractions or convulsions.

Age of Onset

GEFS+ can have a variable age of onset, ranging from infancy to adulthood. The most common age range for symptoms to appear is between 3 months and 6 years old.

Family History

A family history of GEFS+ is often present in individuals with the disorder. This means that if one or more family members have been diagnosed with GEFS+, there may be a higher likelihood of other family members also having the condition.

These symptoms and signs are based on information from [1], [4], [6], [7], [9], [10], [12], and [13].

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 help confirm the condition.

• Clinical tests: There are 86 clinical tests available in the database for GEFS+.
• Molecular Genetics Tests: Mutation scanning of the entire SCN1A gene can be performed to identify heterozygous mutations associated with GEFS+.
• Genetic testing: Genetic testing can help confirm the diagnosis of GEFS+, particularly if there is a family history of the condition.

Available Diagnostic Tests

The following diagnostic tests are available for GEFS+:

• Clinical genetic test offered by Genome Diagnostics Laboratory
• Integrated disease information for Generalized Epilepsy with Febrile Seizures Plus, Type 2

Importance of Diagnostic Testing

Diagnostic testing is essential to confirm the diagnosis of GEFS+, particularly if there is a family history of the condition. Early diagnosis and treatment can help manage symptoms and improve quality of life.

[1] Clinical Genetic Test offered by Genome Diagnostics Laboratory for conditions (22): Generalized epilepsy with febrile seizures plus, type 1; [2] Integrated disease information for Generalized Epilepsy with Febrile Seizures Plus, Type 2 including associated genes, mutations, phenotypes, pathways, ...

Generalized Epilepsy with Febrile Seizures Plus (GEFS+) type 2 is a rare and severe form of epilepsy that affects individuals, particularly children. The condition is characterized by recurrent febrile seizures, which can progress to other types of seizures as the individual grows older.

Treatment Options

The treatment for GEFS+ type 2 typically involves antiepileptic medications to control seizures. According to various studies and medical guidelines [1][3], the following medications are commonly used:

• Sodium valproate
• Levetiracetam
• Lamotrigine
• Clobazam
• Topiramate

In some cases, a combination of these medications may be prescribed to effectively manage seizures [4]. It's essential to note that each individual's response to medication can vary, and the optimal treatment plan should be tailored to their specific needs.

Emergency Management

For individuals with GEFS+ type 2, it is crucial to have a home rescue medication plan in place. This may include rectal or nasal diazepam or buccal/nasal midazolam for emergency situations [8]. Additionally, a Seizure Action Plan should be developed and implemented to ensure prompt and effective management of seizures.

References

[1] Offringa M (2017) - Specific drugs included the benzodiazepines (diazepam, lorazepam, clobazam and midazolam), phenytoin, phenobarbitone, valproate, diclofenac, acetaminophen and others.

[3] Offringa M (2021) - Rapid‐acting antiepileptics and antipyretics given during subsequent fever episodes have been used to avoid the adverse effects of continuous antiepileptic medication.

[4] GEFS+ is a spectrum of seizure disorders of varying severity. GEFS+ is usually diagnosed in families whose members have a combination of febrile seizures [3].

[8] Management of breakthrough seizures is by benzodiazepine such as midazolam [9].

Differential Diagnoses for Generalized Epilepsy with Febrile Seizures Plus (GEFSP2)

Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2) is a rare neurologic disorder characterized by the onset of seizures associated with fever in the first months or years of life. Affected individuals continue to have various types of febrile and afebrile seizures later in life. When diagnosing GEFSP2, it's essential to consider differential diagnoses that may present similar symptoms.

Differential Diagnoses:

• Self-limited familial infantile seizures due to PRRT2: This condition is characterized by recurrent seizures during infancy, which typically resolve on their own by the age of 5. While both conditions involve febrile and afebrile seizures, self-limited familial infantile seizures are generally less severe and have a more favorable prognosis.
• Dravet syndrome (also known as severe myoclonic epilepsy of infancy or SMEI): Dravet syndrome is a rare genetic disorder that presents with febrile seizures during the first year of life, followed by afebrile seizures later in childhood. While both conditions involve severe seizure disorders, Dravet syndrome is generally more severe and has a poorer prognosis.

Key differences between GEFSP2 and other differential diagnoses:

• Age of onset: GEFSP2 typically presents with febrile seizures during the first months or years of life, while self-limited familial infantile seizures due to PRRT2 present during infancy.
• Seizure severity: Dravet syndrome is generally more severe than GEFSP2, with a higher frequency and severity of seizures.
• Prognosis: Self-limited familial infantile seizures due to PRRT2 have a more favorable prognosis than both GEFSP2 and Dravet syndrome.

References:

• [1] Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2) is characterized by the onset of seizures associated with fever in the first months or years of life.
• [3] Self-limited familial infantile seizures due to PRRT2 present during infancy and typically resolve on their own by the age of 5.
• [13] Dravet syndrome is a rare genetic disorder that presents with febrile seizures during the first year of life, followed by afebrile seizures later in childhood.