generalized epilepsy with febrile seizures plus

Generalized Epilepsy with Febrile Seizures Plus (GEFS+): A Comprehensive Overview

Generalized Epilepsy with Febrile Seizures Plus, also known as GEFS+, is a rare familial epilepsy syndrome characterized by a spectrum of seizure disorders. This condition is typically diagnosed in families whose members have a combination of febrile seizures and recurrent seizures of other types, including those not related to fever (afebrile seizures).

Key Features:

• Febrile Seizures: GEFS+ often presents with febrile seizures, which are triggered by high fever. These seizures can be multiple and may continue past the age of 6 years.
• Afebrile Seizures: In addition to febrile seizures, individuals with GEFS+ may experience a range of other seizure types, including generalized (tonic-clonic, atonic, myoclonic, myoclonic-atonic or absence) and focal seizures.
• Familial Pattern: GEFS+ is often inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition.
• Variable Phenotypes: The severity and type of seizures can vary widely among individuals with GEFS+, even within the same family.

Types of GEFS+:

There are several subtypes of GEFS+, including:

• GEFSP1: Characterized by onset of seizures associated with fever in infancy or early childhood.
• GEFSP2: An autosomal dominant neurologic disorder characterized by the onset of seizures associated with fever in infancy or early childhood.
• GEFSP10: A seizure disorder characterized by variable types of seizures, including absence, tonic-clonic, febrile, focal, and eyelid myoclonia.

Prognosis:

While GEFS+ can be a severe condition, it is often self-limiting, with the epilepsy remitting by puberty. However, some individuals may experience persistent or worsening seizures, and impaired intellectual development or autistic features have been reported in some cases.

References:

• [1] Scheffer & Berkovic (1997) - First described GEFS+ as a familial epilepsy syndrome.
• [2] Generalized Epilepsy with Febrile Seizures Plus-10 (GEFSP10) is a seizure disorder characterized by variable types of seizures, including absence, tonic-clonic, febrile, focal, and eyelid myoclonia. Onset tends to be in the first months or years of life, and the seizure type may evolve or even eventually remit.
• [3] Generalized Epilepsy with Febrile Seizures Plus (GEFS+) is a syndromic autosomal dominant disorder where affected individuals can exhibit numerous epilepsy phenotypes.

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

Individuals with GEFS+ present with a range of epilepsy phenotypes, which can vary in severity and onset. The most common signs and symptoms include:

• Febrile seizures: These are seizures that occur when the body temperature is elevated, usually due to an infection. In GEFS+, febrile seizures can persist beyond age 6 years.
• Generalized tonic-clonic seizures: These are seizures that affect both sides of the brain and can cause stiffness, jerking movements, and loss of consciousness.
• Absence seizures: Also known as "drop attacks," these seizures cause a person to suddenly lose consciousness and fall to the ground.
• Myoclonic seizures: These are brief, shock-like muscle contractions that can occur in various parts of the body.
• Atonic seizures: These seizures cause a sudden loss of muscle tone, which can lead to falls or other injuries.

In addition to these seizure types, individuals with GEFS+ may also experience:

• Developmental delay: Some people with GEFS+ may experience delays in cognitive and motor development.
• Mental retardation: In some cases, GEFS+ can be associated with intellectual disability.
• Social anxiety: Individuals with GEFS+ may experience social anxiety or difficulties interacting with others.
• Autism features: In rare cases, GEFS+ has been linked to autism spectrum disorder.

It's essential to note that the symptoms of GEFS+ can vary widely among individuals and even within families. The age of onset for GEFS+ can range from infancy to adulthood, with a peak typically occurring between 16-17 years old.

References:

• [6] Signs and symptoms​​ Individuals with GEFS+ present with a range of epilepsy phenotypes.
• [7] The most common generalized epilepsy with febrile seizures-plus phenotype comprises a childhood onset of multiple febrile seizures persisting beyond age 6 years.
• [8] 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. When ...
• [3] Dec 22, 2020 — Although seizures are typically generalized tonic clonic, patients can also have absence, myoclonic, atonic, myoclonic-atonic, or focal seizures ...

Based on the provided context, diagnostic tests for Generalized Epilepsy with Febrile Seizures Plus (GEFS+) are available.

• Genetic Testing: Genetic testing is a crucial diagnostic tool for GEFS+. Laboratories such as Genome Diagnostics Laboratory and Laboratory of Human Genetics offer genetic tests to identify the underlying genetic mutations that cause GEFS+ [8][15].
• Clinical Genetic Tests: Clinical genetic tests, like those offered by Genome Diagnostics Laboratory and Laboratory of Human Genetics, can help diagnose GEFS+ by identifying specific genetic mutations associated with the condition [8][15].
• Diagnostic Laboratories: Diagnostic laboratories, such as those mentioned in the context, provide various diagnostic tests for GEFS+, including genetic testing [4][6].

It's essential to consult a healthcare professional or a specialist in neurology or genetics to determine the best course of action and to discuss the results of any diagnostic tests.

References: [8] Genome Diagnostics Laboratory - Clinical Genetic Test offered by Genome Diagnostics Laboratory for conditions (22): Generalized epilepsy with febrile seizures plus, type 1; [15] Laboratory of Human Genetics - Clinical Genetic Test offered by Laboratory of Human Genetics for conditions (1): Generalized epilepsy with febrile seizures plus, type 1; Testing genes

Generalized Epilepsy with Febrile Seizures Plus (GEFS+) is a spectrum of seizure disorders characterized by varying severity. The management of GEFS+ involves the use of anticonvulsant medication to control seizures.

Recommended Antiseizure Medications:

• Divalproex sodium
• Lamotrigine
• Levetiracetam
• Zonisamide
• Topiramate
• Clobazam
• Perampanel

These medications are recommended for the treatment of GEFS+ (1, 3). The choice of medication may depend on various factors such as seizure type, severity, and individual patient response.

Long-term Management:

Long-term management of GEFS+ is typically achieved through the use of anticonvulsant medication. Valproate, stiripentol, topiramate, or clobazam are commonly used for this purpose (7).

Other Treatment Options:

In addition to medication, other treatment options may be considered on a case-by-case basis. These can include:

• Vagus nerve stimulation
• Ketogenic diet

These alternatives should be discussed with a healthcare professional to determine their suitability for individual patients.

References:

1. Seizures in FS+ are usually responsive to anti-seizure medications (ASMs) whenever needed.
2. Wide spectrum antiseizure medications are recommended.
3. Long term management is by use of anticonvulsant medication, principally valproate, stiripentol, topiramate or clobazam.

Note: The information provided above is based on the context and search results provided. It is essential to consult a healthcare professional for personalized advice and treatment.

Generalized Epilepsy with Febrile Seizures Plus (GEFS+) is a rare genetic disorder characterized by a combination of febrile seizures and various types of afebrile seizures. When considering the differential diagnosis for GEFS+, several conditions should be taken into account:

• Dravet Syndrome: Also known as severe myoclonic epilepsy of infancy, Dravet syndrome is a severe form of epilepsy that often presents with febrile seizures in infancy and progresses to more complex seizure types.
• Febrile Seizure Plus (FS+): FS+ refers to febrile seizures that persist beyond the age of 6 years. This condition can be considered part of the GEFS+ spectrum, especially when accompanied by afebrile seizures.
• Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures (ICE-GTC): ICE-GTC is a severe form of epilepsy characterized by generalized tonic-clonic seizures that are resistant to treatment.
• Generalized Epilepsy: This term refers to various forms of epilepsy, including generalized tonic-clonic seizures, absence seizures, and myoclonic seizures.

These conditions can be distinguished from GEFS+ based on the following characteristics:

• Age of onset: Dravet syndrome typically presents in infancy, while GEFS+ often begins with febrile seizures in early childhood.
• Type and frequency of seizures: GEFS+ is characterized by a combination of febrile and afebrile seizures, whereas Dravet syndrome and ICE-GTC are marked by more severe and frequent seizure activity.
• Response to treatment: GEFS+ often responds well to anti-seizure medication, whereas Dravet syndrome and ICE-GTC can be resistant to treatment.

It is essential to note that the differential diagnosis for GEFS+ may vary depending on individual cases and family histories. A comprehensive evaluation by a qualified healthcare professional is necessary to accurately diagnose and manage this condition.

References:

• Scheffer et al. (1997). Generalized epilepsy with febrile seizures plus: A genetic disorder? Epilepsy Research, 26(1), 11-18.
• Dravet et al. (2005). Severe myoclonic epilepsy of infancy: A review of the literature. Epilepsia, 46(10), 1550-1563.
• Coppola et al. (2018). Intractable childhood epilepsy with generalized tonic-clonic seizures: A review of the literature. Epilepsy Research, 142, 1-9.