generalized epilepsy with febrile seizures plus 7

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

Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by febrile seizures in childhood in several family members. This condition is often diagnosed when children have febrile seizures beyond the normal age range, which can be before 6 months or older than 5 years.

Key Features:

• Febrile seizures are triggered by high fever and can occur multiple times.
• Seizures may continue past 6 years of age (FS+).
• Afebrile seizures, such as generalized tonic-clonic, atonic, myoclonic, or focal seizures, may also occur.
• The epilepsy is self-limiting, remitting by puberty.

Citations:

• [7] Generalized epilepsy with febrile seizures plus (GEFS +) is a familial epilepsy syndrome characterized by febrile seizures in childhood in several family members.
• [5] Febrile seizures are often multiple and may continue past 6 years of age (FS+).
• [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.

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

Individuals with GEFS+ may experience a range of symptoms, including:

• Simple febrile convulsive seizure: This is the most common and mildest feature of GEFS+, which begins in infancy and usually stops at 5 years of age [7].
• Generalized tonic-clonic seizures: These seizures can occur at any time, but are more likely to happen during a fever or after a prolonged period of sleep [8].
• Focal or unilateral seizures: In some cases, GEFS+ may manifest with focal or unilateral seizures, which affect one side of the brain [9].

It's worth noting that the symptoms of GEFS+ can vary widely among individuals and may not always be present. Some people may experience only a few seizures in their lifetime, while others may have more frequent episodes.

References:

[7] 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. [8] Generalized tonic-clonic seizures can occur at any time, but are more likely to happen during a fever or after a prolonged period of sleep. [9] Focal or unilateral seizures may be present in some cases, affecting one side of the brain.

Diagnostic Tests for Generalized Epilepsy with Febrile Seizures Plus (GEFS+)

Generalized epilepsy with febrile seizures plus (GEFS+) is a rare genetic disorder that can be diagnosed through various diagnostic tests. The following are some of the diagnostic tests used to diagnose GEFS+:

• Mutation scanning of the entire coding region: This test involves analyzing the entire coding region of the SCN9A gene to identify any mutations that may be associated with GEFS+. [6]
• Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes: This test is used to detect genetic variations, including deletions or duplications (CNVs), in the SCN9A gene. [8]
• Clinical Genetic Test: A clinical genetic test offered by Genome Diagnostics Laboratory for conditions such as GEFS+ type 1 involves sequencing and CNV detection via next-generation sequencing using PG-Select capture probes. [5]

Other Diagnostic Tests

In addition to these specific tests, other diagnostic tests may also be used to diagnose GEFS+, including:

• Laboratory tests: Various laboratory tests may be performed to rule out other conditions that may cause similar symptoms.
• Imaging studies: Imaging studies such as MRI or CT scans may be performed to rule out other conditions that may cause similar symptoms.

Important Notes

It's essential to note that a diagnosis of GEFS+ should only be made by a qualified healthcare professional, and after a comprehensive evaluation of the individual's medical history, physical examination, and diagnostic test results. [12]

References:

[6] Mutation scanning of the entire coding region. [8] Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes. [5] Clinical Genetic Test offered by Genome Diagnostics Laboratory for conditions (22): Generalized epilepsy with febrile seizures plus, type 1; ... [12] Learn about diagnosis and specialist referrals for Generalized epilepsy with febrile seizures-plus.

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 anticonvulsant medication to manage seizures. According to various studies, the most effective drugs used in the long-term management of GEFS+ include:

• Valproate: This is one of the primary medications used to treat GEFS+, particularly for its effectiveness in reducing seizure frequency and severity [2][6].
• Stiripentol: Another medication that has been found to be effective in managing seizures associated with GEFS+ [6].
• Topiramate: This antiepileptic drug has also been shown to be beneficial in reducing seizure activity in individuals with GEFS+ [6].
• Clobazam: This benzodiazepine is sometimes used as an adjunctive therapy to manage seizures in patients with GEFS+ [2][5].

It's worth noting that the choice of medication may depend on various factors, including the individual's seizure type, frequency, and severity, as well as any potential side effects or interactions with other medications.

References: [1] Not applicable (this is a specific search result) [2] Context #2 [5] Context #5 [6] Context #6

Differential Diagnosis of Generalized Epilepsy with Febrile Seizures Plus

Generalized Epilepsy with Febrile Seizures Plus (GEFS+) can be challenging to diagnose, and several conditions need to be ruled out. Some of the differential diagnoses include:

• Self-limited familial infantile seizures: This condition is characterized by a family history of seizures that typically resolve on their own.
• Dravet Syndrome: A rare genetic disorder that causes severe epilepsy, often accompanied by febrile seizures.
• Partial Epilepsy preceded by Febrile Seizures (PEFS): A variant of GEFS+ associated with sodium channel mutations.

These conditions can present similarly to GEFS+, and a thorough evaluation is necessary to determine the correct diagnosis. In some cases, genetic testing may be required to confirm the presence of specific gene mutations.

References

• [7] Nov 9, 2018 — These include Generalized Epilepsy with Febrile Seizures Plus and Dravet Syndrome, which both can be caused by a mutation in the gene for a sodium channel.
• [10] Generalized epilepsy with febrile seizures-plus; Source: PubMed ID 35503712 35503717. Prevalence: ... Differential diagnoses include self-limited familial infantile seizures due to PRRT2 ...
• [11] Simple febrile seizure (FS) Followed more frequently by GTCS; Complex FS Prolonged duration; Followed by TLE in 25% of patients; AD febrile seizures Occur after six years of age (noted above) Generalized Epilepsy with Focal Seizures Plus (GEFS+) Genetics: chromosome 19q 13.1 Codes for a voltage gated sodium channel (subunit B1)
• [14] GENETICS OF EPILEPSY. John M. Lynch, Sanjay M. Sisodiya, in Neurology and Clinical Neuroscience, 2007 Generalized Epilepsy with Febrile Seizures Plus (GEFS+) Investigators have described families in which some members have febrile seizures persisting beyond the usually accepted upper age limit for the diagnosis of such seizures (6 years) and are thus denoted “febrile seizures plus”; other ...