familial febrile seizures 6

Familial Febrile Seizures: A Rare but Important Epilepsy Syndrome

Familial febrile seizures, also known as Genetic Epilepsy with Febrile Seizures Plus (GEFS+), is a rare epilepsy syndrome that affects several members of the same family. This condition is characterized by an increased risk of febrile seizures in children and adolescents, often triggered by high fever.

Key Features:

• Family History: GEFS+ tends to run in families, with multiple members affected.
• Febrile Seizures: Children and adolescents with GEFS+ are at a higher risk of experiencing febrile seizures, which can be triggered by high fever.
• Other Epilepsy Types: Individuals with GEFS+ may also experience other types of epilepsy, such as generalized tonic-clonic seizures, absence seizures, or focal seizures.

Prevalence and Diagnosis:

• Rare Condition: GEFS+ is a rare condition, affecting approximately 1 in 10,000 to 1 in 50,000 people.
• Family History: A family history of febrile seizures can be an important indicator for diagnosing GEFS+.

Treatment and Management:

• Anti-Seizure Medication: Individuals with GEFS+ may benefit from anti-seizure medication to manage their symptoms.
• Lifestyle Modifications: Making lifestyle modifications, such as maintaining a healthy diet and staying hydrated, can help reduce the risk of febrile seizures.

According to [6], GEFS+ is usually diagnosed in families whose members have a combination of febrile seizures, which are triggered by a high fever, and recurrent seizures. This condition highlights the importance of family history and genetic predisposition in understanding epilepsy syndromes.

References: [6] Jul 1, 2017 — GEFS+ is usually diagnosed in families whose members have a combination of febrile seizures, which are triggered by a high fever, and recurrent ...

Common Signs and Symptoms of Familial Febrile Seizures

Familial febrile seizures, also known as recurrent febrile seizures, can be a concern for parents who have a family history of these episodes. The signs and symptoms of familial febrile seizures are similar to those of simple febrile seizures, but may occur more frequently or with greater severity.

• Recurring seizures: Children with a family history of febrile seizures may experience recurring episodes, even if the initial seizure was not severe.
• Increased duration: Familial febrile seizures can last longer than simple febrile seizures, sometimes exceeding 15 minutes.
• Focal features: Some children with familial febrile seizures may exhibit focal features, such as twitching or stiffening of a specific limb or area of the body.
• Cluster seizures: In some cases, familial febrile seizures can occur in clusters, with multiple episodes happening within a short period.

Other Factors to Consider

Genetic testing may be indicated if your child experiences:

• Prolonged febrile seizures
• Focal features or cluster seizures
• Recurring febrile seizures past the age when they typically occur

It's essential to consult with a healthcare professional for proper evaluation and guidance on managing familial febrile seizures.

References:

[3] - Children aged 3 months to 5 or 6 years may have seizures when they have a high fever. These are called febrile seizures (pronounced FEB-rile) and occur in 2% to 5% of all children (2 to 5 out of 100 children). There is a slight tendency for them to run in families.

[4] - Symptoms of febrile seizures may include: 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).

[11] - Febrile seizures are more common in children with a family history of fever-related seizures. Genetic testing may be indicated if they are prolonged, have focal features, cluster or recur, or continue past the age when febrile seizures typically occur.

[14] - Symptoms and Signs of Febrile Seizures . Often, febrile seizures occur during the initial rapid rise in body temperature, and most develop within 24 hours of fever onset.

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 Diagnosis: GEFS+ is typically diagnosed clinically based on the seizure type, EEG pattern, and family history. This involves evaluating the child's medical history, performing a physical exam, and reviewing any previous diagnostic tests.
• Genetic Testing: Genetic testing can confirm the diagnosis of GEFS+. This may involve a simple blood test or cheek swab to look for gene mutations associated with the condition.

Diagnostic Tests Used in GEFS+ Diagnosis

• Electroencephalogram (EEG): An EEG is a test that records brain waves to assess the risk of seizure recurrence. It can be used to diagnose GEFS+ if febrile seizures have focal features or are recurrent.
• Genetic Panel: A genetic panel may be performed on blood or a cheek swab to look for gene mutations associated with GEFS+. This can help confirm the diagnosis and identify any affected family members.

Other Diagnostic Tests

• Brain Scans: Brain scans, such as CT scans, may be used to rule out other conditions that could be causing the febrile seizures.
• Epilepsy Panel: An epilepsy panel may be performed on blood or a cheek swab to look for gene mutations associated with various types of epilepsy.

References

• [6] GEFS+ is usually diagnosed in families whose members have a combination of febrile seizures, which are triggered by a high fever, and recurrent ... (search result 6)
• [7] GEFS+ is diagnosed clinically through the seizure type, EEG pattern, and family history. Molecular genetic testing can confirm the diagnosis. Differential ... (search result 7)

Medications for Febrile Seizures

According to the provided context, one medication that may be recommended by a child's provider for treating febrile seizures is Intranasal midazolam. This medication is given through the nose and may be useful in certain cases.

• Midazolam is an intravenous medication that has a longer duration of action compared to diazepam [5].
• It is another option that may be considered by healthcare providers for treating febrile seizures.
• However, it's essential to consult with a child's provider to determine the best course of treatment.

It's worth noting that medications like acetaminophen (Children's Tylenol) or ibuprofen (Children's Motrin or Advil) can help with fevers, but may not directly treat febrile seizures [7].

Familial Febrile Seizures Differential Diagnosis

Familial febrile seizures, also known as Generalized Epilepsy with Febrile Seizures Plus (GEFS+), can be challenging to diagnose. However, there are several conditions that should be considered in the differential diagnosis.

• Acute Bacterial Meningitis: This is a serious condition that requires immediate medical attention. Symptoms include fever, headache, stiff neck, and altered mental status.
• Viral Meningitis: Similar to bacterial meningitis, viral meningitis can cause fever, headache, and stiff neck, but it is typically less severe.
• Viral Encephalitis: This condition involves inflammation of the brain tissue and can cause a range of symptoms, including fever, headache, confusion, and seizures.

It's essential to consider these conditions in the differential diagnosis of familial febrile seizures, especially if the child has a family history of epilepsy or other seizure disorders. A thorough medical evaluation, including laboratory tests and imaging studies, may be necessary to rule out these conditions.

References:

• [6] Around one in four children affected by febrile seizures has a family history of the condition.
• [8] Differentials · Acute bacterial meningitis · Viral meningitis · Viral encephalitis.