familial temporal lobe epilepsy 5

Familial Mesial Temporal Lobe Epilepsy (FMTLE) Description

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].

Some of the key features of FMTLE include:

• Seizures that often begin in adolescence or adulthood
• Mesial temporal lobe involvement, which can cause a range of symptoms
• Rising epigastric sensation, which is a feeling of nausea or discomfort in the stomach area
• Psychic and autonomic symptoms, such as déjà vu, fear, or anxiety
• Impaired consciousness during seizures

It's worth noting that FMTLE can vary in severity, with some individuals experiencing mild symptoms while others may have more severe phenotypes [3].

Common Features of Familial Temporal Lobe Epilepsy

Familial temporal lobe epilepsy, a rare genetic epilepsy, is characterized by various symptoms that can occur during seizures. Some common features include:

• Dreamlike sensation: Many individuals experience a dreamlike or altered state of consciousness during seizures.
• Fear: Fear and anxiety are frequent accompaniments to seizures in people with familial temporal lobe epilepsy.
• Nausea: Nausea and vomiting may also occur during seizures.
• Warmth, sweating, flushing, and pallor: Some individuals experience changes in skin temperature, sweating, or flushing, accompanied by a pale complexion.

These symptoms can vary from person to person and may not be present in every individual with familial temporal lobe epilepsy. However, they are common features that have been reported in many cases [5].

References:

[5] Crompton DE (2010). Features of Familial Temporal Lobe Epilepsy. Cited by 111.

Diagnostic Tests for Familial Temporal Lobe Epilepsy

Familial temporal lobe epilepsy, a rare genetic condition, requires a comprehensive diagnostic approach to confirm the diagnosis. The following tests are commonly used to diagnose and evaluate this condition:

• MRI (Magnetic Resonance Imaging): A high-resolution MRI scan with at least a 1.5-Tesla MRI is recommended for all patients with newly diagnosed temporal lobe epilepsy [3]. This test helps identify structural problems in the brain, such as tumors.
• EEG (Electroencephalogram): An EEG is essential in diagnosing temporal lobe epilepsy, including familial forms. It can show abnormal electrical activity in the brain, which may indicate seizure activity or other neurological issues [4].
• Genetic Testing: Next-generation sequencing tests, such as those that detect single nucleotide and copy number variants in 319 genes associated with epilepsy [6], can help identify genetic mutations responsible for familial temporal lobe epilepsy.
• Clinical Evaluation: A thorough clinical evaluation, including a detailed medical history and neurological examination, is crucial to confirm the diagnosis of familial temporal lobe epilepsy [1].

These diagnostic tests work together to provide a comprehensive understanding of the condition, enabling healthcare professionals to develop an effective treatment plan.

References: [1] Context 2 [3] Context 3 [4] Context 4 [6] Context 6

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.

According to research [5], it is rare for seizures to continue after drug treatment, with only 10-20% of cases experiencing persistent seizures. This suggests that medication can be effective in managing familial temporal lobe epilepsy.

Some medications commonly used to treat this condition include:

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

These medications can help control seizures and improve quality of life for individuals with familial temporal lobe epilepsy. However, it's essential to note that each person may respond differently to treatment, and a healthcare professional should be consulted to determine the best course of action.

References:

[5] 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 ...

Differential Diagnosis of Familial Temporal Lobe Epilepsy

Familial mesial temporal lobe epilepsy (FMTLE) cannot be distinguished from non-familial cases on the basis of clinical, EEG, or MRI findings [5]. This means that it can be challenging to diagnose FMTLE based solely on these factors.

However, some families have a distinct subgroup with antecedent febrile seizures, hippocampal atrophy, and drug-resistant seizures. In such cases, direct questioning of relatives may provide valuable information for diagnosis [6].

It's also worth noting that FMTLE can be distinguished from other conditions, such as autosomal dominant partial epilepsy with auditory features or familial focal epilepsy with variable foci (FFEVF), based on seizure semiology, genetic background, and MRI features [8].