generalized epilepsy with febrile seizures plus 10

Generalized Epilepsy with Febrile Seizures Plus 10 (GEFSP10)

Generalized Epilepsy with Febrile Seizures Plus 10, also known as GEFSP10, is a seizure disorder characterized by the presence of various types of seizures. These can include:

• Absence seizures: brief, sudden lapses in consciousness
• Tonic-clonic seizures: convulsive seizures involving both muscle stiffening and rhythmic muscle contractions
• Febrile seizures: seizures triggered by fever
• Focal seizures: seizures affecting a specific area or region of the brain
• Eyelid myoclonia: sudden, brief contractions of the eyelids

Onset and Characteristics

GEFSP10 typically begins in the first months or years of life. The seizure type may evolve over time, and some individuals may experience remission of seizures later in childhood with no residual effects.

Prevalence and Genetics

While specific information on the prevalence and genetic basis of GEFSP10 is not provided in the available context, it is worth noting that generalized epilepsy with febrile seizures plus (GEFS+) is a complex autosomal dominant disorder often caused by mutations in SCN1A, a voltage-gated sodium channel.

References

• [8] Generalized epilepsy with febrile seizures plus, type 2 (GEFSP2) is an autosomal dominant neurologic disorder characterized by the onset of seizures associated ...
• [14] 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.

Seizure Types and Onset

Generalized epilepsy with febrile seizures plus-10 (GEFSP10) is characterized by various types of seizures, including:

• Absence seizures: brief, sudden lapses in consciousness
• Tonic-clonic seizures: convulsive seizures affecting both sides of the brain
• Febrile seizures: seizures triggered by a high fever
• Focal seizures: seizures affecting one side of the brain
• Eyelid myoclonia: sudden, brief contractions of the eyelids

These seizure types can occur at any age, but onset tends to be in the first months or years of life. In some cases, the seizure type may evolve or eventually remit.

Other Clinical Presentations

In addition to seizures, individuals with GEFSP10 may experience:

• Developmental delay: slower than average development of cognitive and motor skills
• Mental retardation: significantly below-average intellectual functioning
• Social anxiety: excessive fear or anxiety in social situations
• Autism features: difficulties with social interaction, communication, and repetitive behaviors

Age of Onset

The age of onset for GEFSP10 can vary widely, ranging from 6 to 46 years. The peak age of onset is typically between 16 and 17 years.

These symptoms and characteristics are based on the information provided in search results [14][15].

Diagnostic Tests for Generalized Epilepsy with Febrile Seizures Plus

Generalized epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by heterogenous phenotypes of focal and generalized epileptic seizures and genetically heterogenous. Diagnostic tests are available to identify the underlying genetic cause of GEFS+.

• Genetic Testing: Genetic testing can be performed to identify mutations in genes associated with GEFS+, such as SCN1A, SCN1B, and SLC32A1 [10]. This test is typically recommended for individuals who have a family history of GEFS+ or who have experienced recurrent seizures.
• Sequencing and CNV Detection: Next-generation sequencing (NGS) can be used to detect mutations in genes associated with GEFS+. This test can also identify copy number variations (CNVs) that may contribute to the development of GEFS+ [7].
• Clinical Genetic Tests: Clinical genetic tests are available from various laboratories, including Genome Diagnostics Laboratory and Laboratory of Human Genetics. These tests can be used to diagnose GEFS+ and identify the underlying genetic cause [5, 6].

It's essential to note that diagnostic testing for GEFS+ should only be performed under the guidance of a qualified healthcare professional. They will help determine the most appropriate test based on individual circumstances.

References: [10] Scheffer & Berkovic (1997) - First described GEFS+ [7] Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes [5, 6] Clinical Genetic Tests offered by Genome Diagnostics Laboratory and Laboratory of Human Genetics

Treatment Options for Generalized Epilepsy with Febrile Seizures Plus

Generalized epilepsy with febrile seizures plus (GEFS+) is a complex condition that requires individualized treatment approaches. While there are no specific treatments that can cure GEFS+, various medications and therapies can help manage the symptoms and prevent seizures.

Medications for GEFS+

• Anti-seizure medications: These medications, also known as antiepileptics, can be effective in controlling seizures associated with GEFS+. Some common anti-seizure medications used to treat GEFS+ include:
  • Valproic acid
  • Benzodiazepines (such as diazepam or lorazepam)
  • Phenytoin
  • Phenobarbitone
  • Diclofenac
  • Acetaminophen
• Lacosamide: This is a newer antiepileptic drug that has been shown to be effective in treating partial and secondarily generalized seizures, which are common in GEFS+.

Other Treatment Options

• Vagus nerve stimulation (VNS): VNS involves implanting a device that stimulates the vagus nerve to help control seizures. This treatment option may be considered for individuals with GEFS+ who have not responded well to medications.
• Surgery: In some cases, surgery may be an option for individuals with GEFS+ who have focal seizures or other specific seizure types.

Important Considerations

• The choice of medication and treatment approach will depend on the individual's specific symptoms, medical history, and response to previous treatments.
• Regular monitoring and follow-up appointments with a healthcare provider are essential to adjust treatment plans as needed and ensure optimal management of GEFS+ symptoms.

Citations: [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. Although seizures are typically generalized tonic clonic , patients can also have absence , myoclonic , atonic , myoclonic-atonic, or focal seizures. [13] Febrile seizures may distress parents but rarely have any long-term consequences. Reassurance is the only treatment for the vast majority. Identifying ...

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

Generalized epilepsy with febrile seizures plus (GEFS+) is a rare genetic disorder that can be challenging to diagnose. Several conditions share similar symptoms, making differential diagnosis crucial. Some of the key differential diagnoses include:

• Self-limited familial infantile seizures: This condition is characterized by recurrent seizures in infancy, which typically resolve on their own.
• Dravet syndrome: A severe form of epilepsy that begins in early childhood and is often associated with cognitive decline.
• Intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC): A rare and severe form of epilepsy characterized by frequent and prolonged seizures.

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

• Age of onset: Self-limited familial infantile seizures typically begin in infancy, while Dravet syndrome and ICE-GTC often start in early childhood.
• Seizure frequency and duration: GEFS+ is characterized by recurrent febrile seizures, whereas Dravet syndrome and ICE-GTC are marked by frequent and prolonged seizures.
• Cognitive decline: Dravet syndrome and ICE-GTC are often associated with cognitive decline, which is not typically seen in GEFS+.

Accurate differential diagnosis is essential to provide appropriate treatment and management for individuals with GEFS+. A thorough medical history, physical examination, and diagnostic testing (such as genetic analysis) can help differentiate these conditions.