benign familial infantile seizures 5

Benign Familial Infantile Seizures 5 (BFIS5): An Overview

Benign Familial Infantile Seizures 5, also known as BFIS5, is a rare autosomal dominant neurologic disorder characterized by the onset of afebrile seizures during infancy. Afebrile seizures are seizures that occur without fever.

Key Features:

• Age of Onset: Seizures typically begin in infancy, around 3-12 months of age [1][2].
• Type of Seizures: Partial complex or generalized tonic-clonic seizures are commonly associated with BFIS5 [7].
• Genetic Cause: The condition is caused by a mutation in the SCN8A gene [8].

Clinical Features:

• Recurrent Seizures: Seizures are recurrent and can occur multiple times within a short period.
• Remission: In most cases, seizures remit by 2 years of age [9].
• No Fever: Afebrile seizures are a hallmark of BFIS5.

References:

[1] Context result 1 [2] Context result 6 [7] Context result 7 [8] Context result 8

Symptoms of Benign Familial Infantile Seizures

Benign familial infantile seizures, also known as BFIE, are characterized by a specific set of symptoms that occur during a seizure. These symptoms can vary from one individual to another but often include:

• Involuntary movements: Episodic bouts of involuntary movements with dystonic, choreic, or ballistic movements, or a combination thereof.
• No loss of consciousness: Unlike other types of seizures, benign familial infantile seizures do not involve a loss of consciousness during the episode.

It's essential to note that these symptoms can be subtle and may not always be immediately apparent. In some cases, the child may seem to be just daydreaming or not paying attention, making it crucial for parents and caregivers to be aware of these potential signs.

References:

• [5] Episodic bouts of involuntary movements with dystonic, choreic, ballistic movements, or a combination thereof.
• [7] Not all seizures include convulsions or unusual muscle movements. The child may seem to be just daydreaming or not paying attention.

Diagnostic Tests for Benign Familial Infantile Seizures

Benign familial infantile seizures, also known as benign familial epilepsy, can be diagnosed through various tests. Here are some of the diagnostic tests used to confirm this condition:

• Normal Neuroimaging Studies: Neuroimaging studies, such as head ultrasounds or brain MRIs, are typically normal in children with benign familial infantile seizures [5].
• Normal EEG: An electroencephalogram (EEG) is usually normal when the child is not having a seizure. However, during a seizure, the EEG may show abnormal activity.
• Genetic Testing: Genetic testing can confirm the diagnosis of benign familial infantile epilepsy by identifying specific mutations in genes such as SCN2A [3].

It's essential to note that these tests are used in conjunction with clinical evaluation and medical history to rule out other possible causes of seizures. A comprehensive diagnostic workup is necessary to ensure an accurate diagnosis.

References: [5] Oct 27, 2020 — Neuroimaging studies, including either a head ultrasound or brain MRI, are normal. [3] The identification of a novel SCN2A mutation in a family with infantile seizures with onset between 6-8 months provides further confirmation that the gene is associated with benign familial infantile epilepsy.

Treatment Options for Benign Familial Infantile Seizures

Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants. The treatment options for BFIE are limited, and the primary goal is to manage symptoms and prevent complications.

• Antiseizure medications: Studies have shown that antiseizure medications such as lacosamide (LCM) and levetiracetam can be effective in reducing seizure frequency and severity in children with BFIE. Low-dose LCM has been found to be particularly effective in managing seizures in this population [5].
• Other treatment options: While there are limited treatment options available for BFIE, researchers continue to explore new therapies to improve outcomes for affected individuals.

It's essential to note that the effectiveness of these treatments can vary depending on individual factors, and more research is needed to fully understand the best course of treatment for BFIE. Consultation with a healthcare professional is crucial in determining the most suitable treatment plan for each child.

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

Differential Diagnosis of Benign Familial Infantile Seizures

Benign familial infantile seizures (BFIS) are a type of epilepsy that affects infants and young children. When considering the differential diagnosis for BFIS, several conditions should be taken into account.

• Benign Familial Neonatal-Infantile Seizures: This condition is characterized by seizures that occur in the first few months of life and are often associated with a family history of similar seizures.
• Benign Familial Infantile Epilepsy: This is another type of epilepsy that affects infants and young children, characterized by recurrent seizures that typically start in the first year of life.

These conditions can be difficult to distinguish from one another, as they share many similarities. However, a thorough medical evaluation and diagnostic testing can help determine the underlying cause of the seizures.

References:

• [5] Other conditions to consider in the differential diagnosis of neonatal seizures include the following: ... Benign familial infantile seizures.
• [4] Differential diagnosis includes benign familial neonatal-infantile seizures and benign familial infantile epilepsy.