familial temporal lobe epilepsy 8

Familial Temporal Lobe Epilepsy-7 (ETL7) is a form of autosomal dominant lateral temporal lobe epilepsy characterized by focal seizures with prominent auditory hallucinations [8]. This condition is caused by mutations in the LGI1 gene, which encodes leucine-rich glioma-inactivated protein 1 [9].

The clinical manifestations of ETL7 can vary, but they often include:

• Focal seizures with lateral temporal lobe semiology
• Auditory hallucinations as a prominent feature
• Other symptoms may include fixed stare, confusion, fumbling with fingers, and rising epigastric sensation

ETL7 is an autosomal dominant condition, meaning that a single copy of the mutated gene is sufficient to cause the disorder. It is characterized by partial seizures with lateral temporal lobe semiology, which can be quite distinct from other forms of epilepsy.

References: [8] - This form of epilepsy is specifically mentioned in search result 8. [9] - The LGI1 gene mutation causing ETL7 is described in search result 9.

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 here are some common signs and symptoms associated with this condition:

• Rising epigastric sensation: A feeling of rising or warmth in the stomach area, which can spread to the chest or throat [5].
• Fear and anxiety: People with familial temporal lobe epilepsy may experience feelings of fear, panic, or anxiety during seizures [2].
• Nausea and vomiting: Some individuals may feel nauseous or vomit after a seizure [4].
• Automatism: This condition can cause automatism, which includes behaviors such as oral-facial movements, eye blinking, or other repetitive actions [3].
• Auditory features: People with this condition typically hear sounds during seizures, such as buzzing, humming, or ringing [6].

It's essential to note that these symptoms can vary in severity and may not be present in every individual with familial temporal lobe epilepsy. If you suspect someone has this condition, it's crucial to consult a medical professional for proper diagnosis and treatment.

References: [1] Not applicable (this is the user's query) [2] 2. Apr 7, 2023 [3] 3. Dec 31, 2022 [4] 4. by DE Crompton · 2010 · Cited by 111 [5] 5. Familial mesial temporal lobe epilepsy is characterized by seizures with mesial temporal semiology, including rising epigastric sensation, psychic and… [6] 6. People with this condition typically hear sounds (auditory features), such as buzzing, humming, or ringing, during seizures.

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 requires a comprehensive approach that takes into account the patient's seizure history, family history, and other testing results.

Clinical Evaluation

A thorough clinical evaluation is essential in diagnosing FTLE. This includes:

• Seizure History: A detailed account of the patient's seizure episodes, including their frequency, duration, and characteristics.
• Family History: An assessment of the patient's family history to identify any patterns or trends that may suggest a genetic component.

Diagnostic Tests

The following diagnostic tests are commonly used in diagnosing FTLE:

• Blood Tests: Blood tests can help rule out other conditions that may be causing the seizures, such as metabolic disorders.
• EEG Tests: Electroencephalogram (EEG) tests can help identify abnormal electrical activity in the brain that may be contributing to the seizures.
• Brain Imaging Tests: Computed tomography (CT) and magnetic resonance imaging (MRI) scans can help rule out other conditions that may be causing the seizures, such as tumors or structural abnormalities.

Genetic Testing

Genetic testing is also an important part of diagnosing FTLE. This can include:

• Comprehensive Genetic Testing: A comprehensive genetic test that evaluates multiple genes associated with FTLE.
• Targeted Genetic Testing: Targeted genetic tests that evaluate specific genes known to be associated with FTLE.

References:

• [8] Familial temporal lobe epilepsy ... A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras.
• [7] Comprehensive diagnostic genetic testing is ...
• [5] Tests that are used in diagnosing temporal lobe ...

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 research [5], medications are often used to treat familial temporal lobe epilepsy. However, it's essential to note that many people may not achieve seizure control with medicines alone [4]. Some commonly used anti-epileptic drugs (AEDs) for this condition include:

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

Combination Therapy

In some cases, combination therapy may be recommended to achieve better seizure control [7]. This involves using multiple medications or non-drug treatments in conjunction with each other.

Non-Drug Treatments

Non-conventional therapeutic strategies, such as non-drug treatment and combination therapy, have been discussed as potential options for treating familial temporal lobe epilepsy [7].

It's essential to consult a healthcare professional to determine the best course of treatment for an individual case. They can help weigh the pros and cons of different treatment options and develop a personalized plan.

References: [4] Apr 7, 2023 — Many medicines are available to treat temporal lobe seizures. However, many people don't achieve seizure control with medicines alone. [5] by CP Panayiotopoulos · 2005 · Cited by 2 — It is rare for seizures to continue after drug treatment (10–20% of cases). ... 'Lateral (autosomal dominant) familial temporal lobe epilepsy' is the same disease ... [7] by S Ghosh · 2021 · Cited by 69 — We have discussed different non-conventional therapeutic strategies, including combination therapy and non-drug treatment.

Differential Diagnosis of Familial Temporal Lobe Epilepsy

Familial temporal lobe epilepsy (FTLE) should be differentiated from other familial temporal epilepsies, particularly familial mesial temporal lobe epilepsy. Unlike FTLE, familial mesial temporal lobe epilepsy is characterized by seizures with mesial temporal semiology, including rising epigastric sensation, psychic and experiential phenomena, and sometimes déjà-vu and jamais-vu [4].

Other conditions that should be considered in the differential diagnosis of FTLE include:

• Hippocampal epilepsy: This condition involves seizures originating from the hippocampus, which can be distinguished from FTLE by its distinct semiology.
• Familial focal epilepsy with variable foci (FFEVF): FFEVF is a rare form of epilepsy that affects multiple family members and is characterized by seizures with varying foci. It should be considered in the differential diagnosis of FTLE, particularly if there are multiple affected individuals within a family [2].

It's essential to note that accurate diagnosis and differentiation from other conditions require comprehensive clinical evaluation, including detailed history, physical examination, and diagnostic tests such as EEG and imaging studies.

References:

[1] McIntosh A, Howell RA, Mitchell A, Sheffield LJ, Hopper JL. Familial temporal lobe epilepsy: a common disorder identified in twins. Ann Neurol. 1996 Aug. 40(2):227-35. [2] Acharya V, Acharya J ... [4] ... the differential diagnosis of familial focal epilepsy with variable foci should be considered (44).