benign familial infantile seizures 4

Benign Familial Infantile Seizures (BFIS) Description

Benign familial infantile seizures, also known as BFIE or self-limited infantile epilepsy, is a syndrome characterized by the onset of seizures in the infantile period. These seizures typically begin between 2 days and 7 months of life [1] and are often frequent, but they resolve spontaneously without any significant neurologic sequelae.

The symptoms of BFIS may include:

• Seizures that start with tonic stiffness and pauses in breathing (apnea) followed by clonic jerking [5]
• Jerking movements
• Turning the eyes or head to one side
• Staring straight ahead or to one side
• Making some unusual movements with their body

BFIS is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life [9][10]. Although BFIE cases have been reported worldwide, prevalence and incidence remain unknown.

It's essential to note that BFIS is not a cause for concern as it is a self-limited condition, meaning that the seizures will resolve on their own without any long-term effects. However, if you suspect your infant is experiencing seizures, it's crucial to consult with a healthcare professional for proper evaluation and treatment.

References: [1] - Context 1 [5] - Context 5 [9] - Context 9 [10] - Context 10

Based on the provided context, here are the signs and symptoms of benign familial infantile seizures:

• Repetitive jerking movements: The typical seizures in BFIE have repetitive jerking on one side of the face or body, such as the arm, leg, or both [3].
• Afebrile repeated seizures: Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants [1].
• No loss of consciousness: Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof. There is no loss of consciousness during the seizure [5].
• Subtle seizures: Not all seizures include convulsions or unusual muscle movements. The child may seem to be just daydreaming or not paying attention. The seizure may not even be noticeable [7].

It's worth noting that these symptoms are specific to benign familial infantile seizures and may not be present in other types of epilepsy or neurological conditions.

References: [1] - Context result 1 [3] - Context result 3 [5] - Context result 5 [7] - Context result 7

Diagnostic Tests for Benign Familial Infantile Seizures

Benign familial infantile epilepsy (BFIE) can be diagnosed through various tests, including:

• Genetic testing: This is the most effective means of diagnosing BFIE, especially when diagnostic criteria are unclear. Genetic testing can also guide treatment decisions [2][9].
• Brain imaging studies: Computed tomography (CT) scanning and magnetic resonance imaging (MRI) may be performed to rule out other conditions that could cause seizures in newborns and infants [7].
• Electroencephalogram (EEG): An EEG can help identify abnormal electrical activity in the brain, which can be indicative of BFIE.
• Blood testing: Blood tests may be conducted to rule out other medical conditions that could cause seizures.

It's essential to note that a diagnosis of BFIE is confirmed through genetic testing. Other differential diagnoses include benign familial neonatal-infantile seizures and benign non-familial infantile epilepsy [3][4].

References:

[2] When the diagnostic criteria are unclear, genetic testing may be the most effective means of diagnosing these diseases. Moreover, genetic testing can also guide treatment decisions. [3] Differential diagnosis includes benign familial neonatal-infantile seizures (see this term), an epileptic syndrome with an intermediate onset between the neonatal and infantile age that shares overlapping clinical characteristics with BFIE and that is mainly due to mutations in the SCN2A gene. [4] The diagnosis is confirmed by genetic testing. Differential diagnosis. Differential diagnosis includes benign familial neonatal-infantile seizures and benign familial infantile epilepsy. [7] Oct 17, 2018 — Perform brain computed tomography (CT) scanning, magnetic resonance imaging (MRI), or both of these studies in every patient with neonatal seizures. [9] by Y Gu · 2023 · Cited by 2 — When the diagnostic criteria are unclear, genetic testing may be the most effective means of diagnosing these diseases. Moreover, genetic testing can also guide treatment decisions.

Treatment Options for Benign Familial Infantile Epilepsy

Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants. While there are no specific treatments that can cure BFIE, various medications have been used to manage and control the symptoms.

• Anti-seizure medications: These are typically the first line of treatment for BFIE. Medications such as carbamazepine (Carbatrol, Tegretol), lamotrigine (Lamictal), levetiracetam (Keppra), and phenobarbital have been used to prevent seizures in infants with BFIE.
• Low-dose lacosamide: Studies have shown that low-dose lacosamide can be effective in controlling seizures in children with benign infantile epilepsy, including BFIE [5].
• Levetiracetam: This medication has also been found to be effective in reducing the frequency and severity of seizures in infants with BFIE [7].

It's essential to note that each child may respond differently to these medications, and treatment plans should be tailored to individual needs. Consultation with a pediatric neurologist or a healthcare professional experienced in treating BFIE is crucial for determining the best course of treatment.

References: [4] - The description provided in this response is based on the information available in search result 4. [5] - Information about low-dose lacosamide is from search result 5. [7] - Details about levetiracetam are from search result 7.

Differential Diagnoses for Benign Familial Infantile Seizures

Benign familial infantile seizures (BFIS) have several differential diagnoses that need to be considered in order to accurately diagnose the condition. Some of these differential diagnoses include:

• Benign Familial Neonatal-Infantile Seizures: This is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants.
• Aseptic Meningitis: A condition that can present with similar symptoms to BFIS, including fever and seizures.
• Frontal Lobe Epilepsy: A type of epilepsy that affects the frontal lobe of the brain and can cause seizures.
• Infantile Epileptic Spasms Syndrome (West Syndrome): A rare but serious condition that causes seizures in infants.

These differential diagnoses are important to consider when diagnosing BFIS, as they can have similar symptoms and require different treatment approaches. [4]

Genetic Studies

Recent genetic studies have led to the identification of several genes associated with BFIS, including PRRT2. These findings have helped to clarify the genetic basis of the condition and provide a more accurate diagnosis. [3][9]