familial focal epilepsy with variable foci 2

Familial focal epilepsy with variable foci 2 (FFEVF2) is an autosomal dominant form of epilepsy characterized by focal seizures originating from various cortical regions, including the temporal, frontal, parietal, and occipital lobes. This rare genetic epilepsy disorder is associated with focal seizures emanating from different cortical locations in different family members.

Types of Focal Seizures:

• Temporal lobe epilepsy (TLE)
• Frontal lobe epilepsy (FLE)
• Nocturnal frontal lobe epilepsy (NFLE)

Key Features:

• Autosomal dominant inheritance pattern
• Variable penetrance, meaning that not all family members may exhibit symptoms
• Focal seizures originating from different cortical regions in different individuals

Citations:

• [8] - This rare form of epilepsy is characterized by focal seizures originating from various cortical regions.
• [9] - Autosomal dominant familial focal epilepsy with variable foci (FFEVF) is notable because family members have seizures originating from different cortical locations.

Note: The information provided is based on the search results and may not be an exhaustive description of FFEVF2. However, it should provide a general understanding of this rare genetic epilepsy disorder.

Signs and Symptoms of Familial Focal Epilepsy with Variable Foci

Familial focal epilepsy with variable foci (FFEVF) is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. The signs and symptoms of FFEVF can vary from person to person, but some common manifestations include:

• Seizures: Seizures are the primary symptom of FFEVF. They can be focal or partial, meaning they begin in one region of the brain and do not cause a loss of consciousness.
• Aura: Many patients have an aura, which is a warning sign that a seizure is about to occur. The aura can manifest as an abnormal sensation, smell, or feeling of nausea.
• Automatisms: Some individuals may exhibit automatisms during seizures, such as repetitive movements or speech.
• Nocturnal seizures: Seizures can occur at night, and some people may experience them only during sleep.
• Secondary generalization: In some cases, the seizure may spread to other parts of the brain, causing a loss of consciousness.

Specific symptoms can involve:

• Shaking or twitching of one part of the body
• Abnormal sensations in one part of the body
• Sudden onset of nausea
• Flashing lights or visual disturbances
• Forced turning of the eyes or head to one side

These symptoms can vary from person to person and may not be present in every individual with FFEVF. The severity and frequency of seizures also tend to differ among family members.

References:

• [4] - A “focus” is an area in the brain where cells develop differently, causing seizures.
• [6] - Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization.
• [7] - For example, symptoms can involve shaking of one part of the body, an abnormal sensation in one part of the body, sudden onset of nausea, flashing lights or ...
• [8] - For example, the seizure may start with a smell, feeling of nausea, or change in sensation or movement. The eyes or head may turn forcefully to one side.

Based on the provided context, here are the diagnostic tests for Familial Focal Epilepsy with Variable Foci (FFEVF) 2:

• Genetic testing: This is a crucial test for diagnosing FFEVF. It can help identify the cause of a person's epilepsy and lead to an accurate diagnosis and best possible medical management [7].
• DEPDC5 sequencing: This genetic test is recommended for patients with symptoms of FFEVF who have a family history of focal epilepsy consistent with autosomal dominant inheritance [5].
• Other testing: In addition to genetic testing, your healthcare team may also ask for other testing, such as seizure history and family history, to confirm the diagnosis [1].

It's worth noting that the diagnosis of FFEVF is made by genetic testing, and most cases are associated with mutations in the DEPDC5 gene [8]. However, not all individuals with a mutation will develop epilepsy, and not all individuals with epilepsy will have a mutation [9].

References:

[1] Mar 4, 2024 [5] Mar 1, 2017 [7] Mar 4, 2024 [8] Mar 1, 2017 [9] by S Gooley · 2022 · Cited by 4

Treatment Options for Familial Focal Epilepsy with Variable Foci

Familial focal epilepsy with variable foci (FFEVF) is a rare genetic epilepsy disorder that can be challenging to treat. While there are no specific treatments mentioned in the search results, we can discuss some general treatment options for focal epilepsies.

• Antiseizure medications (ASMs): Focal epilepsies, including FFEVF, are generally treated with ASMs. These medications can help control seizures and improve quality of life.
• Add-on clobazam: Clobazam may be useful as an add-on therapy for patients who do not respond to first-line treatments [4].
• Newer drugs: Levetiracetam, lamotrigine, and topiramate are newer antiepileptic drugs that may be effective in treating FFEVF. However, cognitive impairment due to topiramate is a potential concern [4].

It's essential to note that these treatment options are not specific to FFEVF but rather general approaches for focal epilepsies.

Rescue Medications

In some cases, rescue medications like benzodiazepines (e.g., diazepam, lorazepam, and midazolam) may be used to quickly control seizures [6].

Surgical Options

While not specifically mentioned in the search results, surgical options like laser interstitial thermal therapy (LITT) may be considered for patients with medically refractory FFEVF [8].

Please consult a healthcare professional for personalized advice on treating familial focal epilepsy with variable foci.

References:

[4] CP Panayiotopoulos · 2005 [6] Aug 13, 2024 [8] by S Abumurad · 2021

Familial focal epilepsy with variable foci (FFEVF) can be challenging to diagnose due to its unique characteristics and variability in clinical presentation. However, several conditions should be considered in the differential diagnosis:

• Focal Epilepsy Syndromes: Other familial focal epilepsy syndromes, such as Familial Focal Epilepsy with Spasms (FFES), should be ruled out.
• Generalized Epilepsy Syndromes: Conditions like Generalized Tonic-Clonic Seizures (GTCS) or Absence Seizures may present similarly to FFEVF, especially in the early stages of the disease.
• Sleep-related Hypermotor Epilepsy: This rare syndrome can mimic some features of FFEVF, such as focal seizures and preserved awareness during attacks.
• Epilepsy with Auditory Features: Some cases of epilepsy with auditory features may be misdiagnosed as FFEVF due to similar seizure characteristics.

It's essential to note that a comprehensive diagnostic evaluation, including clinical history, EEG, imaging studies, and genetic testing, is necessary to accurately diagnose FFEVF. A thorough differential diagnosis should consider these conditions and others that may present similarly.

References:

• [3] Familial focal epilepsy with variable foci (FFEVF) is a rare type of focal epilepsy syndrome; it is associated with NPRL3 variant.
• [7] FFEVF is a familial syndrome characterized by multiple family members with focal epilepsy, where the focus of seizures can differ between affected individuals.
• [9] Sleep-related hypermotor epilepsy · Familial focal epilepsy with variable foci; Epilepsy with auditory features.