Familial Focal Epilepsy with Variable Foci (FFEVF)


Familial focal epilepsy with variable foci (FFEVF) is a rare syndrome of focal seizures with varying degrees of severity and symptoms of seizures in different family members. Each family member will have a typical focal seizure type. These focal seizures vary, and what happens during a seizure depends on what part of the brain is affected. Sensory, motor, autonomic, (changes in color, heart rate, breathing), and cognition (changes in awareness) are possible. These seizures can occur when a person is awake or asleep. Some seizures are initially focal but can become generalized tonic-clonic seizures.

FFEVF usually presents between in adolescence but can appear between the ages of 1 to 52 years old. Both males and females are affected equally, and children usually have a normal development. However, mild intellectual disability and autism have been reported.

Your healthcare team will diagnose FFEVF based on seizure history, family history, and other testing. Your doctor may ask for a referral to an epilepsy geneticist or a genetics counselor for a detailed family history. During genetic testing for epilepsy, it’s possible that abnormalities may be found in genes like DEPDC5, NPRL2, NPRL3, TSC1, and TSC2. When testing for FFEVF, focal abnormalities will be shown on an EEG. MRI testing may appear normal or show focal cortical dysplasia.

Types of anti-seizure medications considered for treatment include levetiracetam, carbamazepine, oxcarbazepine, valproic acid, topiramate, zonisamide, lacosamide or clobazam. Epilepsy surgery with resection of cortical dysplasia is an option for patients with drug-resistant seizures, particularly . It’s also an option if their MRI shows focal abnormalities that can be safely removed. Neuromodulation with VNS, DBS or RNS are choices for patients who are not good surgical candidates. The ketogenic diet can also be considered in some patients.

Most patients with FFEVF respond well to anti-seizure medications. Drug-resistant seizures occur in up to 30% of patients. People whose seizures do not come under control after trying two or more anti-seizure medications should be referred to an epilepsy center to see if they could benefit from epilepsy surgery.


What You Need to Know
Epilepsy Surgery

Authored By:

Charuta Joshi MD

on Monday, March 04, 2024

Reviewed By:

Elaine Wirrell MD

on Monday, March 04, 2024


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