familial temporal lobe epilepsy 7

Familial Temporal Lobe Epilepsy-7 (ETL7) is a form of autosomal dominant lateral temporal lobe epilepsy characterized by focal seizures with prominent auditory symptoms [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 or other sensory symptoms
• A range of seizure types and frequencies

ETL7 is an autosomal dominant condition, meaning that a single copy of the mutated gene is sufficient to cause the disorder. This means that if one parent has the mutation, each child has a 50% chance of inheriting it.

It's worth noting that ETL7 is a rare form of epilepsy, and more research is needed to fully understand its characteristics and implications for patients and their families.

References: [8] - Describes ETL7 as a form of autosomal dominant lateral temporal lobe epilepsy. [9] - Specifies the LGI1 gene mutation as the cause of ETL7.

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:

• Rising epigastric sensation: A feeling of fear or anxiety that starts in the stomach and rises up to the chest or throat [5].
• Fear and panic: People with this condition may experience feelings of fear, panic, or anxiety during seizures [2].
• Nausea and vomiting: Some individuals may feel nauseous or vomit during or after a seizure [4].
• Automatism: This can include behaviors such as oral-facial movements, eye blinking, or other repetitive actions that are not under conscious control [3].

It's essential to note that these symptoms can vary in severity and frequency from person to person. If you suspect someone has familial temporal lobe epilepsy, it's crucial to consult a medical professional for proper diagnosis and treatment.

References: [1] Not applicable (this is the context number) [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…

Diagnostic Tests for Familial Temporal Lobe Epilepsy

Familial temporal lobe epilepsy (FTLE) is a rare, genetic form of epilepsy that affects the temporal lobe of the brain. Diagnosing FTLE can be challenging, as there is no single test that can confirm the condition. However, several diagnostic tests and evaluations can help identify the presence of FTLE.

• Clinical Evaluation: A thorough clinical evaluation by a neurologist or an epileptologist is essential in diagnosing FTLE. This involves taking a detailed medical history, performing a physical examination, and assessing the patient's seizure history.
• Genetic Testing: Genetic testing can help identify genetic mutations associated with FTLE. However, as mentioned in [context 4], some reports have shown that TLE was clustered in some families, indicating a genetic etiology. Comprehensive diagnostic genetic testing is recommended for familial mesial temporal lobe epilepsy, as stated in [context 7].
• Imaging Studies: Imaging studies such as MRI (magnetic resonance imaging) and CT scanning can help identify structural abnormalities in the brain that may be associated with FTLE. An MRI is considered the neuroimaging modality of choice for temporal lobe epilepsy, especially coronal cuts, as stated in [context 9].
• EEG: An EEG (electroencephalogram) can help diagnose and monitor seizures, including those associated with FTLE.

It's essential to note that a combination of these tests and evaluations may be necessary to confirm the diagnosis of FTLE. A clinical resource, RELN, is available for information about Familial temporal lobe epilepsy 7 and its clinical features [context 3].

Treatment Options for Familial Temporal Lobe Epilepsy

According to various studies, drug treatment is a common approach for managing familial temporal lobe epilepsy.

• Medications: Several medications are available to treat this condition, including:
  • Brivaracetam [7]
  • Cannabidiol oral solution [7]
  • Carbamazepine [2][7]
  • Cenobamate [7]
  • Clobazam [7]
  • Clonazepam [7]
  • Diazepam Nasal [7]
• Effectiveness: Research suggests that some medications, such as levetiracetam, may be more effective than others in treating familial temporal lobe epilepsy [9].
• Combination therapy: Non-conventional therapeutic strategies, including combination therapy, have been discussed as potential treatment options for this condition [6].

It's essential to note that while drug treatment can be effective for many people with familial temporal lobe epilepsy, it may not work for everyone. In some cases, seizures may continue despite medication [5].

Differential Diagnosis of Familial Temporal Lobe Epilepsy

Familial mesial temporal lobe epilepsy (FMTLE) can be challenging to diagnose due to its similarities with other conditions. The differential diagnosis for FMTLE includes:

• Autosomal dominant partial epilepsy with auditory features: This condition is characterized by focal seizures associated with prominent ictal auditory symptoms, and/or receptive aphasia. While it shares some clinical features with FMTLE, the two conditions can be distinguished based on seizure semiology, genetic background, and MRI features [9].
• Other forms of temporal lobe epilepsy: FMTLE should also be differentiated from other forms of temporal lobe epilepsy, such as medial temporal lobe epilepsy (TLE), which is a clinical diagnosis that cannot be distinguished from nonfamilial cases on the basis of clinical, EEG, or MRI findings [6].
• Other genetic partial epilepsies: FMTLE should also be considered in the differential diagnosis with other genetic partial epilepsies, such as familial focal epilepsy with variable foci (FFEVF), which is characterized by all individuals in the family having seizures with mesial temporal lobe features [2].

It's essential to consider these conditions and perform a thorough clinical evaluation, including seizure semiology, genetic background, and MRI findings, to accurately diagnose FMTLE.

References: [6] - Context result 6 [9] - Context result 9