familial temporal lobe epilepsy 3

Familial Temporal Lobe Epilepsy: A Rare but Important Focal Epilepsy Syndrome

Familial temporal lobe epilepsy (FTLE) is a rare and important focal epilepsy syndrome that affects individuals across various age groups. The condition is characterized by recurrent seizures originating from the temporal lobe, often accompanied by distinct clinical features.

Clinical Features of FTLE

• Seizure semiology: Seizures in FTLE can manifest as simple or complex partial seizures with autonomic or psychic auras.
• Frequency and duration: Seizures occur infrequently, are of short duration, and are usually well-controlled with medication.
• Development and cognition: Development and cognitive functions remain normal.

Types of FTLE

Several forms of familial temporal lobe epilepsy have been identified, including:

1. Mesial form: Characterized by seizures originating from the medial or internal structures of the temporal lobe.
2. Lateral form: Associated with pathogenic variants in the LGI1 gene and characterized by focal seizures with prominent auditory features.

Genetic Predisposition

Growing evidence suggests that genetic predisposition plays a significant role in the development of FTLE. Several single-gene mutations or specific gene loci have been linked to this condition, highlighting its complex etiology.

References

• [3] The best definition of familial mesial temporal lobe epilepsy is based on the familial recurrence of mesial temporal lobe epilepsy, which is defined by clinical-EEG criteria according to the ILAE recommendations (28), in the absence of any suggestion of other focal or generalized epilepsy syndromes in other affected family members. Thus, the condition is characterized by recurrent seizures originating from the temporal lobe, often accompanied by distinct clinical features.
• [11] Temporal lobe epilepsy (TLE) is the most common focal epilepsy in adulthood. 1 Initially regarded as an acquired disorder, two forms of familial TLE are now widely recognized. 2 First, a lateral form, autosomal dominant epilepsy with auditory features (ADEAF), 3 associated with pathogenic variants in LGI1 is in about half the cases. 4 Second, the more common mesial form, familial mesial temporal lobe epilepsy, has been described.
• [13] Temporal lobe epilepsy is the commonest partial epilepsy of adulthood. Although generally perceived as an acquired disorder, several forms of familial temporal lobe epilepsy, with mesial or lateral seizure semiology, have been described. Descriptions of familial mesial temporal lobe epilepsy have varied, highlighting the complexity of this condition.

Common Signs and Symptoms of Familial Temporal Lobe Epilepsy

Familial temporal lobe epilepsy, also known as mesial temporal lobe epilepsy, is a rare genetic condition characterized by seizures that start in the temporal lobes of the brain. The symptoms can vary from person to person but often include:

• Aura/Focal Ware: A feeling of fear, anxiety, or a rising sensation coming from the stomach to the chest or throat
• Motionless Stare, Dilated Pupils, and Behavioral Arrest: A person may appear frozen in place with dilated pupils and no response to their surroundings
• Automatism - Oral-Facial, Eye Blinking, Alimentary: Automatic behaviors such as lip smacking, eye blinking, or swallowing without any conscious control

These symptoms can be a sign of an impending seizure, and it's essential for individuals with familial temporal lobe epilepsy to seek medical attention if they experience any of these signs.

According to [3], features such as a dreamlike sensation, fear, nausea, warmth, sweating, flushing, and pallor were frequent accompaniments in the absence of other symptoms. It's crucial to note that each person may experience different symptoms, and only a qualified medical professional can provide an accurate diagnosis and treatment plan.

References: [3] Dec 31, 2022 — Signs and symptoms · Aura/focal ware · Motionless stare, dilated pupils, and behavioral arrest · Automatism - Oral-facial, eye blinking, alimentary ...

Diagnostic Tests for Familial Temporal Lobe Epilepsy

Familial temporal lobe epilepsy (FTLE) is a rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. Diagnosing FTLE can be challenging, and multiple tests may be recommended to confirm the condition.

Recommended Diagnostic Tests:

• Genetic Testing: Comprehensive diagnostic genetic testing is often recommended to identify the underlying genetic cause of FTLE. This may involve testing for specific gene mutations associated with the condition.
• Clinical Evaluation: A thorough clinical evaluation by a neurologist or epilepsy specialist is essential to assess the individual's medical history, seizure characteristics, and other relevant factors.
• Imaging Studies: Imaging studies such as computed tomography (CT) scanning, positron emission tomography (PET), and magnetic resonance imaging (MRI) may be used to rule out other conditions that may mimic FTLE.

Other Relevant Information:

• Genetic testing from US labs and international labs around the world are available for diagnosing familial temporal lobe epilepsy.
• A clinical resource with information about Familial temporal lobe epilepsy 7 and its clinical features, RELN, is also available.

References:

1. [3] Clinical resource with information about Familial temporal lobe epilepsy 7 and its clinical features, RELN, available genetic tests from US and labs around the world.
2. [8] Testing Algorithm. Delineates situations when tests are recommended for familial mesial temporal lobe epilepsy.

Note: The above answer is based on the context provided, which includes information about diagnostic tests for familial temporal lobe epilepsy.

Treatment Options for Familial Temporal Lobe Epilepsy

For individuals with familial temporal lobe epilepsy, drug treatment is often the first line of therapy. According to various studies [5][8], carbamazepine monotherapy is frequently effective in controlling seizures. However, a significant proportion of patients (approximately one-third) may be resistant to this treatment.

In refractory cases, multiple anti-epileptic drugs (AEDs) are often ineffective [5]. The management of familial temporal lobe epilepsy is similar to that described for focal symptomatic epilepsies [8].

Medications Used

Several medications have been approved by the FDA for the treatment of partial seizures, including phenytoin, carbamazepine, valproate, and phenobarbital [3]. However, newer medications such as brivaracetam, cannabidiol oral solution, clobazam, clonazepam, diazepam nasal spray, levetiracetam, and perampanel have also been used to treat this condition.

Effectiveness of Medications

Studies have shown that levetiracetam is reported to be most effective among the second-generation AEDs [9]. It has a higher effect than all other AEDs, including first-generation ones. However, it's essential to note that individual responses to medications can vary greatly.

References: [3] For the longest time, 4 principal medications were used for partial seizures: phenytoin, carbamazepine, valproate, and phenobarbital. [5] The management is the same as that described for focal symptomatic epilepsies.

The differential diagnosis for familial mesial temporal lobe epilepsy (FMTLE) includes several conditions that can present with similar clinical and EEG features. Some of these conditions include:

• Autosomal dominant partial epilepsy with auditory features: This condition is characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia [8].
• Familial focal epilepsy with variable foci (FFEVF): FMTLE can be distinguished from FFEVF based on seizure semiology, genetic background, and MRI features [8].
• Nonfamilial cases of medial temporal lobe epilepsy: FMTLE cannot be distinguished from nonfamilial cases on the basis of clinical, EEG, or MRI findings [6].

It's worth noting that a thorough evaluation by a qualified healthcare professional is necessary to accurately diagnose and differentiate between these conditions.