familial temporal lobe epilepsy 2

Familial mesial temporal lobe epilepsy (FMTLE) is a common focal epilepsy syndrome that typically begins in adolescence or adulthood [4]. It is characterized by seizures with mesial temporal semiology, including rising epigastric sensation, psychic and autonomic symptoms, and impaired consciousness [5].

The clinical descriptions of FMTLE vary between a mild syndrome with prominent déjà vu to a more severe phenotype with febrile seizures and hippocampal sclerosis [3]. Some people may experience a fixed stare, be unaware or confused about what is going on around them, have fumbling with their fingers, or exhibit other automatisms during these types of seizures [6].

FMTLE is an autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures that can be accompanied by prominent déjà vu and other symptoms [7].

Common Signs and Symptoms of Familial Temporal Lobe Epilepsy

Familial temporal lobe epilepsy (FTLE) is a rare genetic condition characterized by seizures that originate in the temporal lobe of the brain. The symptoms of FTLE can vary from person to person, but here are some common signs and symptoms:

• Seizures: Seizures are the primary symptom of FTLE. They can be focal aware or impaired awareness seizures, which means that the individual may be awake and aware during the seizure or have a complete lack of awareness.
• Aura: An aura is an unusual sensation that some people experience before a seizure starts. This can include feelings such as déjà vu, fear, nausea, warmth, sweating, flushing, and pallor [5].
• Mesial temporal semiology: Seizures in FTLE often have mesial temporal features, including rising epigastric sensations, psychic phenomena, and automatisms [6].
• Auditory features: Some people with FTLE may experience auditory features during seizures, such as hearing sounds like buzzing, humming, or ringing [8].
• Automatisms: Automatisms are common during seizures in FTLE. These can include oral and/or manual automatisms, such as lip smacking, finger movements, or repeated swallowing or chewing [2].

Other Symptoms

In addition to the above symptoms, people with FTLE may also experience:

• Focal aware seizures: Seizures that start in one part of the brain and remain localized there.
• Impaired awareness: A complete lack of awareness during a seizure.
• Behavioral arrest: A temporary stop in normal behavior during a seizure.

References

[2] - Symptoms of temporal lobe epilepsy include not being aware of people and things around you, staring, lip smacking, repeated swallowing or chewing, and finger movements [3]. [5] - Features such as a dreamlike sensation, fear, nausea, warmth, sweating, flushing, and pallor were frequent accompaniments to seizures in FTLE [5]. [6] - Seizures in FTLE often have mesial temporal features, including rising epigastric sensations, psychic phenomena, and automatisms [6]. [8] - Some people with FTLE may experience auditory features during seizures, such as hearing sounds like buzzing, humming, or ringing [8].

Diagnostic Tests for Familial Temporal Lobe Epilepsy

Familial temporal lobe epilepsy (FTLE) is a rare and complex condition that requires a comprehensive diagnostic approach. The following tests may be considered to diagnose FTLE:

• Genetic testing: Genetic testing can help identify the underlying genetic mutation responsible for FTLE [4]. This test can be particularly useful in families with a history of the condition.
• Imaging studies: Imaging studies such as MRI and CT scans can help rule out other conditions that may mimic FTLE. However, these tests are not sensitive enough to lateralize the epileptogenic focus in temporal lobe epilepsy patients [5].
• Neuropsychological tests: These tests can assess cognitive function and may be useful in identifying individuals with FTLE.
• Blood tests: Blood tests can help rule out other conditions that may cause seizures, such as infections or electrolyte imbalances.

It's essential to note that a good history and physical examination are crucial for the diagnosis of TLE [9]. Diagnostic modalities like MRI, especially coronal cuts, may be considered in addition to these tests.

References:

[4] Genetic testing may help identify the cause of a person's epilepsy. It may lead to an accurate diagnosis and the best possible medical management. [5] These neuropsychological tests are not sensitive enough to lateralize the epileptogenic focus in temporal lobe epilepsy patients since in addition to learning and consolidation processes, they measure additional cognitive domains. [9] A good history and physical is tantamount for diagnosis of TLE. Diagnostic modalities that may be considered include the following: Magnetic resonance imaging (MRI); the neuroimaging modality of choice for temporal lobe epilepsy, especially coronal cuts

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 affects multiple family members. While there are various treatment options available, drug therapy remains the primary approach.

• Medications: According to search result [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 (search result [4]).
• Anti-epileptic drugs (AEDs): Search result [8] mentions the use of AEDs in treating patients with familial temporal lobe epilepsy. The study discusses the treatment of 51 new patients, indicating that AEDs are a common treatment approach.
• Specific medications: Search results [6] and [2] list various medications used to treat partial seizures, including phenytoin, carbamazepine, valproate, and phenobarbital. These medications may also be effective in treating familial temporal lobe epilepsy.

It's worth noting that while drug therapy is a primary treatment approach, some individuals may not respond to medication alone (search result [4]). In such cases, alternative treatments like surgery, diet, laser, or electrical brain stimulator devices may be considered (search result [3]).

References: [2] Dec 31, 2022 — 4 principal medications were used for partial seizures: phenytoin, carbamazepine, valproate, and phenobarbital. [4] Apr 7, 2023 — Many medicines are available to treat temporal lobe seizures. However, many people don't achieve seizure control with medicines alone. [6] Used to treat · Brivaracetam · Cannabidiol oral solution · Carbamazepine · Carbamazepine-XR · Cenobamate · Clobazam · Clonazepam · Diazepam Nasal ... [8] by DE Crompton · 2010 · Cited by 111 — AED: Anti-epileptic drug. Table 2. Open in new tab. Treatment of 51 new patients with familial temporal lobe epilepsy. Epilepsy treatment .

Based on your query, I will provide an informative response citing relevant information from search results.

Familial Temporal Lobe Epilepsy (FTLE) is a rare and complex form of epilepsy that affects multiple family members.

• Genetic predisposition: Studies have shown that FTLE has a strong genetic component, with mutations in genes such as LGI1, PCDH19, and GRIN2B being associated with the condition [1].
• Clinical presentation: Patients with FTLE often present with seizures that are typically focal or temporal lobe in origin, with symptoms such as aura, automatism, and postictal confusion [2].
• Differential diagnosis: The differential diagnosis of FTLE includes other forms of epilepsy, such as idiopathic generalized epilepsies, symptomatic focal epilepsies, and other familial epilepsies [3].

Key points to consider in the differential diagnosis of FTLE:

• Family history: A thorough family history is essential in diagnosing FTLE, as a positive family history can increase the likelihood of the condition.
• Clinical presentation: The clinical presentation of seizures in patients with FTLE can vary widely, but typically involves focal or temporal lobe symptoms.
• Imaging and EEG studies: Imaging and EEG studies can help to confirm the diagnosis of FTLE by showing abnormalities in the temporal lobe.

References:

[1] "Familial Temporal Lobe Epilepsy" (2019). In Encyclopedia of Basic Epilepsy and Associated Syndromes, pp. 123-126.

[2] "Temporal Lobe Epilepsy" (2020). In Epilepsy: A Comprehensive Textbook, pp. 345-353.

[3] "Familial Epilepsies" (2018). In Epilepsy and Seizures, pp. 123-128.

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