familial febrile seizures 11

Familial Febrile Seizures 11 (FFS11) Overview

Familial febrile seizures-11 (FFS11) is a rare autosomal recessive seizure disorder that affects early childhood. This condition is characterized by the onset of simple or complex seizures associated with fever, typically in children under the age of six.

Key Features:

• Autosomal Recessive Inheritance: FFS11 is inherited in an autosomal recessive pattern, meaning that a child must inherit two copies of the mutated gene (one from each parent) to develop the condition.
• Early Childhood Onset: Seizures associated with FFS11 typically begin in early childhood, often before the age of six.
• Simple or Complex Seizures: The seizures can range from simple (e.g., generalized tonic-clonic seizures) to complex (e.g., multiple seizure types).
• Fever-Triggered: The seizures are triggered by fever, which is often caused by an infection.

References:

• [1] - FFS11 is characterized by early childhood onset of simple or complex seizures associated with fever.
• [5] - Children up to age six may be at risk of febrile seizures if present in the family history, which includes FFS11.
• [10] - Genetic epilepsy with febrile seizures plus (GEFS+), which includes FFS11, is an unusual epilepsy syndrome that usually affects several members of the same family.

Familial Febrile Seizures: Signs and Symptoms

Familial febrile seizures are a type of febrile seizure that tends to run in families. Children with a family history of fever-related seizures may be more susceptible to developing febrile seizures themselves.

• Increased susceptibility: Genetic and familial factors appear to increase the risk of febrile seizures [11].
• Family history: If a child's parents, brothers or sisters, or other close relatives have had febrile seizures, they may be more likely to experience them as well [3].
• Symptoms: Febrile seizures can manifest in various ways, including:
  • Loss of consciousness or passing out
  • Uncontrollable shaking, jerking, or stiffening in the arms or legs (may be the whole body or only part of the body)
  • Eye rolling
  • Loss of bodily control (such as drooling, vomiting, urinating, or having a bowel movement) [4]
• Duration: Febrile seizures can last anywhere from a few seconds to several minutes, but typically do not exceed 15 minutes [8].
• Frequency: Simple febrile seizures usually only occur once during an illness, while complex febrile seizures may recur or cluster [13].

It's essential for parents and caregivers to be aware of these signs and symptoms, especially if there is a family history of febrile seizures. If you suspect your child is experiencing a febrile seizure, it's crucial to seek medical attention immediately.

References: [3] - Context result 3 [4] - Context result 4 [8] - Context result 8 [11] - Context result 11

Diagnostic Tests for Familial Febrile Seizures

Familial febrile seizures, also known as Generalized Epilepsy with Febrile Seizures Plus (GEFS+), can be diagnosed through a combination of clinical evaluation and genetic testing.

• Clinical Evaluation: The diagnosis of GEFS+ is typically made based on the seizure type, EEG pattern, and family history. A healthcare provider will review a child's medical history and perform a physical exam to assess for any underlying conditions that may be contributing to the febrile seizures.
  • [2] A diagnostic evaluation based on the underlying disorder is done if necessary.
• Genetic Testing: Genetic testing can confirm the diagnosis of GEFS+. This typically involves a simple blood test or cheek swab to look for gene mutations associated with the condition. The genetic test may be offered to the child and any other affected family members.
  • [5] Your child and any other affected family members may be offered a genetic test to look for any gene mutations.
• Electroencephalography (EEG): An EEG may be performed if the febrile seizures have focal features or are recurrent. This can help identify any abnormal electrical activity in the brain that may be contributing to the seizures.
  • [4] Electroencephalography (EEG) is done if febrile seizures have focal features or are recurrent.

Other Diagnostic Tests

• Blood Testing and Urinalysis: Blood testing and urinalysis may be performed to identify the cause of the fever. However, these tests are not necessary in simple febrile seizures.
  • [9] Blood testing and urinalysis may be done to identify the cause of the fever.

Important Notes

• Routine blood tests, neuroimaging, and electroencephalography are not recommended for diagnosing familial febrile seizures. [8]
• Genetic testing is usually a simple blood test or cheek swab, but it can confirm the diagnosis of GEFS+.
  • [5]

References:

[1] DK Smith · 2019 · Cited by 174 [2] Nov 22, 2024 [3] Dec 22, 2020 [4] Electroencephalography (EEG) is done if febrile seizures have focal features or are recurrent. [5] Your child and any other affected family members may be offered a genetic test to look for any gene mutations. [6] GEFS+ is diagnosed clinically through the seizure type, EEG pattern, and family history. Molecular genetic testing can confirm the diagnosis. [7] Jul 1, 2017 [8] by RC GRAVES · 2012 · Cited by 282 [9] Blood testing and urinalysis may be done to identify the cause of the fever.

Treatment Options for Familial Febrile Seizures

Familial febrile seizures are a type of seizure disorder that can be inherited. While there is no cure, various treatments can help manage the condition and reduce the risk of recurrent seizures.

• Oral Diazepam: This medication has been found to reduce the risk of subsequent febrile seizures [9]. It is often prescribed as an intermittent therapy to minimize adverse effects.
• Benzodiazepines: In some cases, benzodiazepines like diazepam or lorazepam may be required to stop seizures [18, 19, 33].
• Antiepileptics and Antipyretics: Research has shown that continuous or intermittent treatment with antiepileptics, antipyretics, or zinc is not recommended for children with febrile seizures [3].

Important Considerations

When treating familial febrile seizures, it's essential to consider the following:

• Fever Treatment: After a seizure has stopped, treatment for the fever should be started using medications like acetaminophen or ibuprofen [6].
• Vaccination Status: Children who are up-to-date with their vaccinations and have a first simple febrile seizure may not require testing. However, those with delayed vaccination schedules or compromised immune systems may need further evaluation [4].

References

[3] Offringa et al. (study on antiepileptics, antipyretics, and zinc in children with FS) [9] Oral diazepam can reduce the risk of subsequent febrile seizures [18, 19, 33] Benzodiazepines may be required to stop seizures

Differential Diagnosis of Familial Febrile Seizures

Familial febrile seizures, also known as Genetic Epilepsy with Febrile Seizures Plus (GEFS+), is a familial syndrome characterized by the presence of febrile seizures in an individual with a family history of seizures/epilepsy. The differential diagnosis for familial febrile seizures includes:

• Typical febrile seizures: These are generalized seizures that occur with a fever greater than 100.4 °F (38 °C) not associated with a central nervous system (CNS) infection, a known seizure-provoking etiology, or history of an afebrile seizure.
• Febrile seizures plus (FS+): These are febrile seizures that occur in association with other neurological symptoms, such as developmental delays, intellectual disability, or other seizure types.

Other Differential Diagnoses

In addition to typical and FS+ febrile seizures, the differential diagnosis for familial febrile seizures also includes:

• Acute bacterial meningitis: A serious infection of the brain that can cause fever, headache, and confusion.
• Viral meningitis: An inflammation of the meninges (the protective membranes surrounding the brain) caused by a viral infection.
• Viral encephalitis: An inflammation of the brain tissue itself, often caused by a viral infection.

Important Considerations

A correct differential diagnosis from febrile seizures is crucial for appropriate treatment and prevention of further severe complications. The exclusion of infectious agents in the brain is essential to avoid misdiagnosis and inappropriate treatment.

References:

• [11] Differential diagnoses; Overview.
• [13] A correct differential diagnosis from febrile seizures (FS) leads to an appropriate treatment, possibly preventing further severe complications.
• [8] Differentials · Acute bacterial meningitis · Viral meningitis · Viral encephalitis.