generalized epilepsy with febrile seizures plus 6

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 members of the same family. This condition is often diagnosed when multiple family members experience recurring seizures, including those triggered by fever and other types.

Key Features:

• Febrile seizures typically begin between 6 months and 6 years of age
• Seizures may be generalized or focal, and can persist beyond early childhood
• The epilepsy syndrome is usually inherited in an autosomal dominant pattern

GEFS+ is a complex condition with variable phenotypes among different family members. It is essential to note that GEFS+ is not a single disorder but rather a spectrum of seizure disorders of varying severity.

References:

[6] Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by febrile seizures in childhood in several ...

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

GEFS+ is a spectrum of seizure disorders characterized by varying severity. 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 [1]. Although seizures are typically generalized tonic-clonic, patients can also have absence, myoclonic, atonic, myoclonic-atonic, or focal seizures.

Clinical Signs and Symptoms:

• Febrile Seizures: These are triggered by a high fever and are the most common type of seizure in GEFS+ [2].
• Afebrile Seizures: These can be generalized (tonic-clonic, atonic, myoclonic, myoclonic-atonic or absence) or focal and may occur without a fever [3].
• Seizure Frequency: Febrile seizures are often multiple and may continue past 6 years of age (FS+) [4].
• Response to Medication: Seizures in FS+ are typically responsive to anti-seizure medication, if used [5].

Other Symptoms:

• GEFS+ can cause many different types of seizure, including generalized tonic-clonic seizures, absence seizures, myoclonic seizures, atonic seizures, and focal seizures [6].
• The syndrome is often associated with a family history of epilepsy or febrile seizures [7].

It's essential to note that the exact prevalence and incidence of GEFS+ are unknown, but it is considered a rare familial epilepsy syndrome characterized by febrile, focal, and generalized seizures [8].

Diagnostic Tests for Generalized Epilepsy with Febrile Seizures Plus

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

• Genetic testing: GEFS+ is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. Genetic testing can identify the specific genetic mutation responsible for the condition.
• Sequencing and CNV detection via NextGen Sequencing using PG-Select Capture Probes: This test method is used to detect genetic mutations in individuals with GEFS+ (Source: [6])
• Clinical Genetic Test offered by Laboratory of Human Genetics: This test is specifically designed to diagnose conditions, including GEFS+, by analyzing genes and detecting genetic mutations (Source: [5])

These diagnostic tests can help identify the underlying genetic cause of GEFS+ and provide a definitive diagnosis. However, it's essential to note that the prevalence of GEFS+ is unknown, and its exact incidence is also unclear (Source: [2]).

References

[1] Generalized epilepsy with febrile seizures-plus; Source: PubMed ID 35503712 [2] Prevalence: Unknown. Inheritance: Autosomal dominant. [5] Clinical Genetic Test offered by Laboratory of Human Genetics for conditions (1): Generalized epilepsy with febrile seizures plus, type 1; [6] by EH Tan · 2012 · Cited by 13 — In the GEFS+ syndrome, the most common generalized epilepsy phenotypes were febrile seizure plus (FS+).[3] SCN1A is the most widely reported and clinically ...

Generalized Epilepsy with Febrile Seizures Plus (GEFS+) can be treated with various medications, depending on the severity and frequency of seizures.

• Anti-seizure medications: Medications such as benzodiazepines (e.g., diazepam, lorazepam), phenytoin, phenobarbitone, valproate, diclofenac, acetaminophen, and others may be used to control seizures in GEFS+ patients [5].
• Rapid-acting antiepileptics: Rapid-acting antiepileptics and antipyretics given during subsequent fever episodes can help avoid the adverse effects of continuous antiepileptic medication [7].
• Vagus nerve stimulation: Vagus nerve stimulation has been used to treat GEFS+ patients with seizures accompanied by impaired consciousness [9].

It's essential to note that treatment for GEFS+ may not be necessary in most individuals, and regular follow-up is recommended. Seizures in FS+ are usually responsive to anti-seizure medications whenever needed [4]. The choice of medication depends on the seizure type or types that the individual experiences.

References: [5] Specific drugs included the benzodiazepines (diazepam, lorazepam, clobazam and midazolam), phenytoin, phenobarbitone, valproate, diclofenac, acetaminophen, and others may be used to control seizures in GEFS+ patients. [7] Rapid-acting antiepileptics and antipyretics given during subsequent fever episodes have been used to avoid the adverse effects of continuous antiepileptic medication. [9] Vagus nerve stimulation for generalized epilepsy with febrile seizures plus (GEFS+) accompanying seizures with impaired consciousness.

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

Generalized epilepsy with febrile seizures plus (GEFS+) can be challenging to diagnose, and several conditions may present similarly. 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 by age 5-6 years.
• Dravet Syndrome: Also known as severe myoclonic epilepsy of infancy (SMEI), this is a rare genetic disorder that presents with febrile seizures and later develops into more complex seizure types.
• Lennox-Gastaut Syndrome: A rare form of epilepsy characterized by multiple seizure types, including tonic-clonic, atonic, and atypical absences.
• Infantile Spasms: A severe form of epilepsy that typically presents in infancy with brief, repetitive seizures.
• Epilepsy with focal seizures: This condition is characterized by seizures that originate from a specific area of the brain.

These differential diagnoses are important to consider when evaluating patients with GEFS+, as they may require different treatment approaches and have distinct prognoses. [10][11][12]

Key Points:

• Self-limited familial infantile seizures typically resolve on their own by age 5-6 years.
• Dravet Syndrome is a rare genetic disorder that presents with febrile seizures and later develops into more complex seizure types.
• Lennox-Gastaut Syndrome, Infantile Spasms, and Epilepsy with focal seizures are other differential diagnoses to consider in patients with GEFS+.

Note: The above information is based on the provided context and may not be an exhaustive list of differential diagnoses.