familial temporal lobe epilepsy 4

Familial Mesial Temporal Lobe Epilepsy (FMTLE) Definition

Familial mesial temporal lobe epilepsy is a rare and complex condition characterized by the recurrence of mesial temporal lobe epilepsy within families. The best definition of FMTLE is based on the familial recurrence of mesial temporal lobe epilepsy, as defined by clinical-EEG criteria according to the International League Against Epilepsy (ILAE) recommendations [28].

Key Features

• Familial recurrence of mesial temporal lobe epilepsy
• Clinical-EEG criteria for diagnosis
• Absence of other focal or generalized epilepsy syndromes in affected family members

Citations

[4] The definition of FMTLE is based on the familial recurrence of mesial temporal lobe epilepsy, as defined by clinical-EEG criteria according to the ILAE recommendations [28].

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 originate in the temporal lobes of the brain. The symptoms can vary from person to person but often include:

• Aura/Focal Seizure: A warning sign or focal seizure that can manifest as a dreamlike sensation, fear, nausea, warmth, sweating, flushing, and pallor [4].
• Automatism: Repetitive behaviors such as oral-facial movements, eye blinking, and alimentary automatism [3].
• Rising Epigastric Sensation: A feeling of rising from the stomach to the chest or throat, often accompanied by nausea [5].

Other Possible Symptoms

In addition to these common symptoms, people with familial temporal lobe epilepsy may also experience:

• Auditory Features: Hearing sounds such as buzzing, humming, or ringing during seizures [7].
• Complex Partial Seizures: Simple or complex partial seizures that can affect various parts of the brain and body [8].

Causes

Familial temporal lobe epilepsy is often caused by genetic mutations or changes in brain structure. Other possible causes include infections, brain injury, tumors, or other underlying medical conditions [6].

Diagnostic Tests for Familial Temporal Lobe Epilepsy

Familial temporal lobe epilepsy (FTLE) is a rare genetic disorder that affects the temporal lobe of the brain, leading to seizures. Diagnosing FTLE can be challenging, but various tests can help confirm the condition.

• Magnetic Resonance Imaging (MRI): An MRI scan is often the first imaging test used to diagnose FTLE. It can show structural abnormalities in the temporal lobe, such as tumors or cysts [4].
• Computed Tomography (CT) Scanning: CT scans may also be used to rule out other conditions that could cause similar symptoms.
• Electroencephalogram (EEG): An EEG measures electrical activity in the brain and can help identify abnormal patterns associated with seizures.
• Blood Tests: Blood tests may be conducted to check for signs of infections, genetic conditions, blood sugar levels, or electrolyte imbalances [11].
• Genetic Testing: Comprehensive diagnostic genetic testing is useful to determine the molecular etiology of FTLE, which can assist in establishing long-term prognosis and identifying appropriate therapeutic and management strategies [12].

It's essential to note that no single test can diagnose all cases of FTLE. A combination of these tests may be recommended to confirm the diagnosis.

References: [4] Dec 31, 2022 — Other imaging modalities that can be used in the diagnosis of temporal lobe epilepsy include computed tomography (CT) scanning, positron ... [11] Your health care provider may test your behavior, motor abilities and mental function. This can let your provider know about the health of your brain and nervous system. Blood tests. Your provider may take a blood sample. The test can check for signs of infections, genetic conditions, blood sugar levels or electrolyte imbalances. [12] Familial mesial temporal lobe epilepsy. Febrile seizures. Focal cortical dysplasia. Focal epilepsy. GEFS+. Generalized epilepsy. ... Comprehensive diagnostic genetic testing is useful to determine the molecular etiology which in turn can assist in establishing long-term prognosis and identifying appropriate therapeutic and management strategies.

Treatment Options for Familial Temporal Lobe Epilepsy

Familial temporal lobe epilepsy, also known as lateral (autosomal dominant) familial temporal lobe epilepsy, is a rare form of epilepsy that can be challenging to treat. While there are various treatment options available, the effectiveness of these treatments can vary from person to person.

Medications

According to recent studies [4], many medicines are available to treat temporal lobe seizures in individuals with familial temporal lobe epilepsy. However, it's essential to note that some people may not achieve seizure control with medications alone [5].

Some commonly used anti-epileptic drugs (AEDs) for treating temporal lobe epilepsy include:

• Brivaracetam
• Cannabidiol oral solution
• Carbamazepine
• Cenobamate
• Clobazam
• Clonazepam
• Diazepam Nasal

Other Treatment Options

In addition to medications, other treatment options for familial temporal lobe epilepsy may include:

• Surgery: In some cases, surgery may be considered to remove the affected area of the brain.
• Dietary changes: Some people with epilepsy find that making dietary changes, such as following a ketogenic diet, can help reduce seizure frequency.
• Laser and electrical brain stimulator devices: These devices can be used to stimulate the brain and potentially reduce seizure activity.

It's essential to consult with a healthcare professional to determine the best course of treatment for an individual case of familial temporal lobe epilepsy.

Differential Diagnosis of Familial Temporal Lobe Epilepsy

Familial temporal lobe epilepsy (FTLE) can be challenging to diagnose, and it's essential to consider differential diagnoses to ensure accurate identification. According to various studies [4][8][13], the following conditions should be ruled out when diagnosing FTLE:

• Familial focal epilepsy with variable foci (FFEVF): This condition is characterized by seizures with mesial temporal lobe features, but it's distinguished from FTLE by the presence of a family history.
• Sporadic temporal structural brain abnormality: This condition involves structural abnormalities in the temporal lobe, which can cause seizures. However, it's not associated with a family history.
• Other forms of focal onset epilepsy: These include absence, frontal lobe, and parietal lobe epilepsies, which should be considered as differential diagnoses for FTLE.

It's crucial to note that the diagnosis of FTLE requires a comprehensive evaluation, including medical history, physical examination, and diagnostic tests such as EEG and imaging studies [15][17]. A thorough understanding of these differential diagnoses can help clinicians accurately diagnose and manage patients with familial temporal lobe epilepsy.