generalized epilepsy with febrile seizures plus 1

Generalized Epilepsy with Febrile Seizures Plus (GEFSP1)

Generalized Epilepsy with Febrile Seizures Plus type 1 (GEFSP1) is a rare genetic disorder characterized by the onset of seizures associated with fever in infancy or early childhood. This condition is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition.

Key Features:

• Age of Onset: Seizures typically begin in infancy or early childhood.
• Seizure Types: Patients may experience various types of seizures, including generalized tonic-clonic, focal, and other seizure types.
• Fever Association: Seizures are often triggered by fever.
• Genetic Basis: GEFSP1 is caused by mutations in the SCN1A gene, which codes for a voltage-gated sodium channel.

Prevalence and Impact:

While exact prevalence figures are not available, GEFSP1 is considered a rare condition. The disorder can have significant impacts on patients' quality of life, with seizures potentially affecting daily activities, sleep, and overall well-being.

References:

• [11] Generalized epilepsy with febrile seizures plus type 1 (GEFSP1) is an autosomal dominant neurologic disorder characterized by onset of seizures associated with fever in infancy or early childhood.
• [13] One third of patients have febrile seizures only; two thirds have a variety of epilepsy syndromes, both focal and generalized.

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

Generalized epilepsy with febrile seizures plus (GEFS+) can cause a wide range of symptoms, including:

• Febrile Seizures: These are seizures triggered by a high fever and are often the first sign of GEFS+. They can be simple or complex, and may occur multiple times.
• Afebrile Seizures: In addition to febrile seizures, people with GEFS+ may also experience seizures that are not related to fever. These can be generalized (affecting both sides of the brain) or focal (affecting one side of the brain).
• Generalized Tonic-Clonic Seizures: These are a type of seizure that affects both sides of the brain and can cause muscle stiffness, convulsions, and loss of consciousness.
• Absence Seizures: These are brief seizures that affect the part of the brain responsible for attention and awareness. They can cause a person to "zone out" or become unresponsive for a few seconds.
• Myoclonic Seizures: These are sudden, brief muscle contractions that can occur anywhere in the body.
• Atonic Seizures: These are seizures that cause a person to lose muscle tone and become limp.
• Developmental Delay: Some people with GEFS+ may experience developmental delays or intellectual disability.
• Mental Health Issues: There is also an increased risk of mental health issues, such as anxiety and depression.

Age of Onset

GEFS+ can have a variable age of onset, ranging from infancy to adulthood. The most common age of onset is childhood, but it can also occur in adults.

References:

• [1] GEFS+ can cause many different types of seizure. (Source: #3)
• [2] Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where affected individuals can exhibit numerous epilepsy phenotypes. (Source: #4)
• [3] The most common generalized epilepsy with febrile seizures-plus phenotype comprises a childhood onset of multiple febrile seizures persisting past 6 years of age. (Source: #8)
• [4] Febrile seizures are often multiple and may continue past 6 years of age (FS+). Seizures in FS+ are typically responsive to anti seizure medication (if used), and the epilepsy is self-limiting, remitting by puberty. (Source: #11)

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

Generalized epilepsy with febrile seizures plus (GEFS+) is a rare familial epilepsy syndrome characterized by febrile, focal, and generalized seizures. Diagnostic tests are essential to confirm the diagnosis of GEFS+. Here are some diagnostic tests used for GEFS+:

• Genetic Testing: Genetic testing is the primary method for diagnosing GEFS+. It involves analyzing genes associated with GEFS+, such as SCN1A, SCN1B, and GABRG2. [4][5]
• Sequencing and CNV Detection via NextGen Sequencing: This test method uses PG-Select Capture Probes to detect genetic mutations. Reflex testing to PGxome is also available for this panel. [8]
• Clinical Genetic Tests: Clinical genetic tests are offered by various laboratories, including Genome Diagnostics Laboratory and Laboratory of Human Genetics. These tests analyze genes associated with GEFS+ and provide a comprehensive diagnosis. [6][7]

Important Notes

• GEFS+ has an autosomal dominant pattern of inheritance with reduced penetrance (70% to 80%). This means that even if a genetic mutation is detected, not everyone in the family may develop symptoms.
• Diagnostic tests for GEFS+ should be performed by qualified healthcare professionals and laboratories.

References:

[4] Clinical Genetic Test offered by Genome Diagnostics Laboratory for conditions (22): Generalized epilepsy with febrile seizures plus, type 1; [5] Clinical Genetic Test offered by Laboratory of Human Genetics for conditions (1): Generalized epilepsy with febrile seizures plus, type 1; Testing genes ... [6] Test Method: Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes. Reflex to PGxome AVAILABLE FOR THIS PANEL. [7] Clinical resource with information about Generalized epilepsy with febrile seizures plus type 12 and its clinical features, SLC32A1, available genetic tests from US and labs around the world and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, PharmGKB [8] Test Method: Sequencing and CNV Detection via NextGen Sequencing using PG-Select Capture Probes. Reflex to PGxome AVAILABLE FOR THIS PANEL.

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 is no cure, various medications can help manage the symptoms and prevent seizures.

• Antiepileptic Medications: The most effective antiepileptic medications for GEFS+ are:
  • Valproic acid: This medication has been shown to be highly effective in reducing seizure frequency and severity [5].
  • Benzodiazepines: These medications, such as diazepam and lorazepam, can help control seizures and prevent status epilepticus [6].
  • Phenytoin and phenobarbitone: These older antiepileptic medications may still be effective in some cases, but their use is generally limited due to side effects [6].
• Other Medications: In addition to antiepileptic medications, other treatments may be considered:
  • Lacosamide (Vimpat): This medication has been shown to be effective in reducing seizure frequency and severity in patients with GEFS+ [7].

It's essential to note that each patient's response to treatment will vary, and the choice of medication should be individualized based on the specific characteristics of the condition. A healthcare professional can help determine the best course of treatment for a patient with GEFS+.

Based on the provided context, here are some potential differential diagnoses for Generalized Epilepsy with Febrile Seizures Plus (GEFS+):

• Self-limited familial infantile seizures: This condition is mentioned in search result [7] as a possible differential diagnosis for GEFS+. It is characterized by febrile seizures that typically resolve on their own.
• Other seizure disorders: Search results [3] and [5] mention various types of seizures, such as generalized tonic-clonic, absence, myoclonic, atonic, myoclonic-atonic, or focal seizures, which may be considered in the differential diagnosis for GEFS+.

It's worth noting that GEFS+ is a complex condition with varying severity and presentation, and a comprehensive evaluation by a healthcare professional is necessary to determine the most accurate diagnosis. [7][3][5]

References: [7] - Generalized epilepsy with febrile seizures-plus; Source: PubMed ID 35503712 35503717 [3] - 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. [5] - The others presented with different combinations of GTCS, tonic seizures, atonic seizures, and absences, only in part associated with fever.