familial febrile seizures 9

Familial Febrile Seizures: A Rare Epilepsy Syndrome

Familial febrile seizures, also known as Genetic Epilepsy with Febrile Seizures Plus (GEFS+), is a rare epilepsy syndrome that typically affects several members of the same family. This condition is characterized by an increased susceptibility to febrile seizures, which are full-body convulsions caused by high fevers in young children.

Key Features:

• Family History: GEFS+ often runs in families, with multiple relatives affected.
• Febrile Seizures: Children with GEFS+ experience recurrent febrile seizures, which can be triggered by a high fever.
• Other Epilepsy Types: In addition to febrile seizures, individuals with GEFS+ may also experience other types of epilepsy, such as generalized tonic-clonic seizures.

Prevalence and Impact:

While the exact prevalence of GEFS+ is unknown, it is considered a rare condition. However, for families affected by this syndrome, the impact can be significant, with multiple relatives experiencing recurrent febrile seizures and potentially other types of epilepsy.

References:

• [9] Genetic epilepsy with febrile seizures plus (GEFS+) is an unusual epilepsy syndrome. It usually affects several members of the same family.
• [6] Underlying genetic disorders may predispose individuals to a history of febrile seizures,5,6 which can be part of the clinical presentation in some cases

Familial Febrile Seizures: Signs and Symptoms

Children who have a family history of febrile seizures are more likely to experience multiple seizures. Some common signs and symptoms of familial febrile seizures include:

• Multiple seizures: Children with a family history of febrile seizures are at greater risk of having multiple seizures.
• Early sign of illness: Children who have febrile seizures before showing other symptoms of an illness are at greater risk of having multiple seizures.

These signs and symptoms can indicate that a child is more likely to experience familial febrile seizures. It's essential for parents or caregivers to be aware of these risks and seek medical attention if they suspect their child is experiencing a febrile seizure.

Family history—Children whose family members had febrile seizures are more likely to have more than one seizure. [9]

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: A healthcare provider will review the child's medical history and perform a physical exam to assess for any underlying conditions that may be contributing to the febrile seizures. They will also look for any family history of epilepsy or febrile seizures.
• Electroencephalogram (EEG): An EEG is a test that records brain waves to assess the risk of seizure recurrence. It can help identify any abnormal electrical activity in the brain that may be contributing to the febrile seizures.
• Genetic Testing: Genetic testing can confirm the diagnosis of GEFS+ by identifying specific gene mutations associated with this condition. This is usually done through a simple blood test.

Additional Diagnostic Tests

Other diagnostic tests may also be performed, including:

• Blood testing and urinalysis: To identify the cause of the fever
• Brain scans (CT or MRI): To rule out any underlying brain abnormalities that may be contributing to the febrile seizures

Citations

[9] Blood testing and urinalysis may be done to identify the cause of the fever. EEG and other neuroimaging studies are not necessary in simple febrile seizures [1].

Treatment Options for Familial Febrile Seizures

Familial febrile seizures, also known as Generalized Epilepsy with Febrile Seizures Plus (GEFS+), is a rare genetic disorder that affects the nervous system. While there is no cure for GEFS+, certain medications can help manage and prevent seizures.

• Antiepileptic drugs: These medications are used to control seizures in individuals with GEFS+. The indications for giving antiepileptic drugs include seizures lasting more than 5 minutes, febrile status epilepticus, or recurrent febrile seizures. [10]
• Specific medications: Studies have shown that certain medications, such as benzodiazepines (diazepam, lorazepam, clobazam, and midazolam), phenytoin, phenobarbital, valproate, diclofenac, paracetamol, and ibuprofen, may be effective in preventing febrile seizures. [3][4]

Important Considerations

• Seizure duration: Antiepileptic drugs are typically given if seizures last more than 5 minutes or if there is a risk of febrile status epilepticus.
• Fever management: Medications like acetaminophen (Children's Tylenol) or ibuprofen can help reduce fever, which may prevent further seizures. [8][9]

References

[10] GEFS+ is a familial epilepsy syndrome in which affected individuals within a family typically have a variety of epilepsy phenotypes, varying from simple febrile seizures and febrile seizures plus with a good outcome to severe epileptic encephalopathies. [3] Specific drugs included the benzodiazepines (diazepam, lorazepam, clobazam and midazolam), phenytoin, phenobarbitone, valproate, diclofenac, acetaminophen and ... [4] We included trials that compared one treatment with another for febrile seizures.

Differential Diagnoses for Familial Febrile Seizures

Familial febrile seizures, also known as Genetic Epilepsy with Febrile Seizures Plus (GEFS+), can be challenging to diagnose due to their complex interplay of genetic and environmental factors. Here are some key differential diagnoses to consider:

• Acute bacterial meningitis: This is a serious infection that requires immediate medical attention. Symptoms include fever, headache, stiff neck, and altered mental status.
• Viral meningitis: A milder form of meningitis caused by viral infections, which can also present with fever, headache, and stiff neck.
• Viral encephalitis: An inflammation of the brain tissue caused by a viral infection, which can lead to seizures, confusion, and altered mental status.

Key Points to Consider

• Familial febrile seizures are often associated with a family history of seizures or epilepsy.
• GEFS+ is a spectrum disorder that can range from simple febrile seizures to severe epileptic encephalopathies.
• A correct differential diagnosis is crucial for appropriate treatment and prevention of further complications.

References

[9] Febrile seizures are generalized seizures, typically in children between the ages of 6 months and 5 years, 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 (eg, electrolyte imbalance, hypoglycemia, or substance abuse), or history of an afebrile seizure.[1] No defined fever threshold is ...