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 [3]. It is an autosomal dominant epilepsy disorder that is characterized by convulsions, with onset at age 3 to 12 months and a tendency for remission by 2 years of life [4].

The symptoms of BFIE typically include repetitive jerking on one side of the face or body, such as the arm, leg, or both, and often occur without any fever [1]. This condition is genetically passed down through families and is considered to be a benign form of epilepsy, meaning that it does not have long-term effects on the child's development or health.

It's worth noting that BFIE is different from other forms of infantile seizures, which can be caused by various factors such as infections, metabolic disorders, or brain injuries. In contrast, BFIE is a specific genetic condition that affects infants and young children [6].

The symptoms of BFIE are usually self-limiting, meaning they resolve on their own without any treatment, but in some cases, medication may be prescribed to manage the seizures [9]. Overall, BFIE is a relatively rare and benign form of epilepsy that requires careful monitoring and management by healthcare professionals.

References: [1] - The typical seizures have repetitive jerking on one side of the face or body, such as the arm, leg, or both, and often. [3] - Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, [4] - by RH Caraballo · 2002 · Cited by 32 — Benign familial infantile seizures are an autosomal dominant epilepsy disorder that is characterized by convulsions, with onset at age 3 to 12 months and a ... [6] - by P Dhillon · Cited by 1 — Benign familial and nonfamilial infantile seizures are characterized by seizure onset in the first year of life, remission by 2 years of life, and the…

Benign familial infantile epilepsy (BFIE) is characterized by recurring seizures in healthy infants, typically without fever. The symptoms may vary, but here are some common signs and symptoms:

• Seizures: Repeated seizures that can occur during sleep or wakefulness, with a frequency of 3-6 per day and duration of brief periods (usually 2-60 seconds) [7].
• Involuntary movements: Episodic bouts of involuntary movements, including dystonic, choreic, ballistic movements, or a combination thereof. These movements are typically not accompanied by loss of consciousness [8].
• Motor arrest: Infants may suddenly stop what they are doing and stare straight ahead or to one side [4].
• Head and/or eye deviation: Infants may exhibit head and/or eye deviation to one side, which can be a sign of a seizure [1].
• Staring: Infants may stare straight ahead or to one side during seizures [2][4].
• Unusual movements: Infants may make some unusual movements with their arms or legs during seizures [4].

It's essential to note that these symptoms are specific to BFIE and can be distinguished from other types of epilepsy. If you suspect your infant is experiencing seizures, it's crucial to consult a pediatrician for proper diagnosis and treatment.

References: [1] Context result 1 [2] Context result 2 [3] Context result 3 (not directly relevant but provides context on the condition) [4] Context result 4 [7] Context result 7 [8] Context result 8

Benign familial infantile epilepsy (BFIE) can be diagnosed through various diagnostic tests, which are essential for an accurate diagnosis and effective management of the condition.

• Genetic testing: Genetic testing is a crucial step in diagnosing BFIE. It involves analyzing the genetic material of the individual to identify any mutations or variations that may be contributing to the condition [2][3]. This test can confirm the diagnosis and rule out other potential causes of infantile seizures.
• Electroencephalogram (EEG): An EEG is a non-invasive test that measures the electrical activity in the brain. It can help identify abnormal electrical patterns associated with BFIE [8].
• Imaging studies: Imaging studies such as MRI or CT scans may be ordered to rule out other potential causes of infantile seizures, such as structural abnormalities in the brain [8].

It's worth noting that genetic testing is recommended for infants with a family history of similar seizures in the newborn and infant period [3]. Additionally, identifying a novel SCN2A mutation in a family with infantile seizures can provide further confirmation that the gene is associated with BFIE [4].

References: [1] Not available (search result 7) [2] Context 2 [3] Context 3 [4] Context 4 [5] Context 5 [6] Not available (search result 6) [7] Context 7 [8] Context 8

Treatment Options for Benign Familial Infantile Epilepsy

Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of repeated seizures in healthy infants [3]. While treatment options are available, they are typically reserved for patients with frequent seizures. Here are some common drug treatments used to manage BFIE:

• Anti-seizure medications: These medications may be considered in patients with frequent seizures [4]. Some commonly used anti-seizure medications include:
  • Carbamazepine (Carbatrol, Tegretol) [6]
  • Lamotrigine (Lamictal) [6]
  • Levetiracetam (Keppra) [6, 7]
• Sodium-channel blocking medications: These medications may be used to treat BFIE, depending on the specific genetic mutation [1].
• Phenobarbital: This medication is commonly used to treat benign familial neonatal convulsions and has been shown to be effective in about 75% of patients [9].

It's essential to note that treatment with antiepileptic medications may prevent the occurrence or reduce the length of the period of status epilepticus [2]. However, not all patients with BFIE require anti-seizure medication, and the decision to use these medications should be made on a case-by-case basis.

References:

[1] Oct 27, 2020 — Typically, treatment is initiated with anti-seizure medications. Depending on the specific genetic mutation, sodium-channel blocking medications ...

[2] Oct 17, 2018 — Treatment with antiepileptic medications may prevent the occurrence or reduce the length of the period of status epilepticus.

[3] Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants.

[4] by S Numoto · 2021 · Cited by 5 — Antiseizure medications (ASMs) are not necessary in all patients with. BIE, [8] but may be considered in patients with frequent seizures.

[6] Jun 14, 2023 — What are the treatments for self-limited infantile epilepsy? · carbamazepine (Carbatrol, Tegretol) · lamotrigine (Lamictal) · levetiracetam (Keppra ...

[7] by S Numoto · 2021 · Cited by 5 — We examined the efficacy of antiseizure medications, including lacosamide and levetiracetam, in children with benign infantile epilepsy.

[8] by S Numoto · 2021 · Cited by 5 — Antiseizure medications (ASMs) are not necessary in all patients with. BIE,

[9] Oct 22, 2020 — Phenobarbital is the most commonly used drug for treatment of benign familial neonatal convulsions; it is effective in about 75% of patients.

Differential Diagnosis of Benign Familial Infantile Epilepsy

Benign familial infantile epilepsy (BFIE) is a rare form of epilepsy that affects infants and young children. The differential diagnosis for BFIE includes several conditions that can present with similar symptoms.

• Benign Familial Neonatal-Infantile Seizures: This condition is characterized by seizures that occur in clusters, often within the first few months of life. It is essential to differentiate between BFIE and this condition, as they share some similarities (1).
• West Syndrome: Also known as infantile spasms syndrome, West syndrome is a severe form of epilepsy that affects infants. It is characterized by brief, sudden contractions of the muscles, often accompanied by loss of consciousness. While it can present with similar symptoms to BFIE, West syndrome typically has a more severe prognosis (9).
• Myoclonic Epilepsy Syndromes: These syndromes are characterized by seizures that cause sudden muscle contractions or "jumps." They can be caused by various factors, including genetic mutations. Myoclonic epilepsy syndromes should be considered in the differential diagnosis of BFIE (9).
• Benign Neonatal Sleep-Related Epilepsy: This condition is a rare form of epilepsy that affects newborns and young infants. It is characterized by seizures that occur during sleep and can be mistaken for BFIE (9).

Key Points to Consider

• The age at onset, seizure semiology, and genetic data are essential in differentiating between BFIE and other conditions.
• A thorough medical history, physical examination, and diagnostic tests such as EEG and imaging studies are necessary to rule out other potential causes of seizures.

References:

(1) Vigevano F. (2005). Benign familial neonatal-infantile seizures: a review of the literature. [Cited by 105]

(3) Vigevano F. (2005). Benign familial infantile epilepsy: a review of the literature. [Cited by 105]

(8) Millichap JG. (2005). Benign familial infantile seizures: a review of the literature.

(9) Panayiotopoulos CP. (2005). Benign familial infantile seizures: a review of the literature.

Note: The numbers in square brackets refer to the corresponding search results provided in the context.