4 free views remaining today
generalized epilepsy with febrile seizures plus
ICD-10 Codes
Related ICD-10:
Description
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.
Additional Characteristics
- Generalized Epilepsy with Febrile Seizures Plus, also known as GEFS+, is a rare familial epilepsy syndrome characterized by a spectrum of seizure disorders.
- GEFS+ often presents with febrile seizures, which are triggered by high fever.
- Individuals with GEFS+ may experience a range of other seizure types, including generalized and focal seizures.
- GEFS+ is often inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition.
- The severity and type of seizures can vary widely among individuals with GEFS+, even within the same family.
- There are several subtypes of GEFS+, including GEFSP1, GEFSP2, and GEFSP10.
- GEFSP+ can be a severe condition, but it is often self-limiting, with the epilepsy remitting by puberty.
- Some individuals may experience persistent or worsening seizures, and impaired intellectual development or autistic features have been reported in some cases.
Signs and Symptoms
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 ...
Additional Symptoms
- Developmental delay
- Mental retardation
- Atonic seizures
- Myoclonic seizures
- Febrile seizures
- Generalized tonic-clonic seizures
- Absence seizures
- Autism features
- anxiety
Diagnostic Tests
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
Treatment
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:
- Seizures in FS+ are usually responsive to anti-seizure medications (ASMs) whenever needed.
- Wide spectrum antiseizure medications are recommended.
- 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.
Recommended Medications
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
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.
Additional Differential Diagnoses
- Febrile Seizure Plus (FS+)
- Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures (ICE-GTC)
- Generalized Epilepsy
- Dravet syndrome
Additional Information
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_1196
- rdf-schema#subClassOf
- http://purl.obolibrary.org/obo/DOID_1827
- owl#annotatedSource
- t336194
- oboInOwl#hasOBONamespace
- disease_ontology
- oboInOwl#created_by
- lschriml
- rdf-schema#comment
- Xref MGI.
- oboInOwl#creation_date
- 2011-10-28T02:57:50Z
- oboInOwl#id
- DOID:0060170
- core#notation
- DOID:0060170
- oboInOwl#hasDbXref
- ORDO:36387
- IAO_0000115
- An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset.
- oboInOwl#hasExactSynonym
- GEFS+
- rdf-schema#label
- generalized epilepsy with febrile seizures plus
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#DO_rare_slim
- relatedICD
- http://example.org/icd10/G40.3
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
Medical Disclaimer: The information provided on this website is for general informational and educational purposes only.
It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.