familial temporal lobe epilepsy 1

Familial Temporal Lobe Epilepsy (FTLE) Description

Familial temporal lobe epilepsy, also known as mesial temporal lobe epilepsy (MTLE), 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].

Clinical Variations

The clinical descriptions of FTLE vary between a mild syndrome with prominent déjà vu to a more severe phenotype with febrile seizures and hippocampal sclerosis [3]. Some individuals 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 the seizure [6].

Genetic Aspects

A form of autosomal dominant lateral temporal lobe epilepsy, known as familial temporal lobe epilepsy-7 (ETL7), has been linked to mutations in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1 [9]. This condition is characterized by partial seizures with prominent lateral temporal lobe features.

Key Points

• Familial temporal lobe epilepsy is a common focal epilepsy syndrome.
• Seizures often have mesial temporal semiology.
• Clinical descriptions vary from mild to severe phenotypes.
• A form of autosomal dominant lateral temporal lobe epilepsy, ETL7, has been linked to LGI1 gene mutations.

References: [3] RV Harris · 2023 · Cited by 7 [4] (no specific citation) [5] (no specific citation) [6] (no specific citation) [9] (no specific citation)

Common Signs and Symptoms of Familial Temporal Lobe Epilepsy

Familial temporal lobe epilepsy, a rare genetic condition, is characterized by seizures with distinct semiology, including autonomic or psychic auras. The symptoms can vary from person to person but often include:

• Rising epigastric sensation: A feeling of rising stomach upset or nausea [5]
• Psychic and emotional experiences: Feelings of fear, panic, anxiety, déjà-vu, or other unusual sensations [1][2]
• Automatism: Repetitive behaviors such as oral-facial movements, eye blinking, or alimentary automatism [3]
• Motionless stare and dilated pupils: A person may become motionless with dilated pupils during a seizure [3]

These symptoms can be accompanied by other features such as a dreamlike sensation, fear, nausea, warmth, sweating, flushing, and pallor [4]. It's essential to note that the specific signs and symptoms can vary from individual to individual.

References:

[1] Auras are the same as focal aware seizures. · The most common auras are feelings of déjà-vu or some stomach upset. [2] Apr 7, 2023 — These seizures begin in the temporal lobes of the brain. They can trigger a variety of symptoms such as odd feelings, fear and ... [3] Dec 31, 2022 — Signs and symptoms · Aura/focal ware · Motionless stare, dilated pupils, and behavioral arrest · Automatism - Oral-facial, eye blinking, alimentary ... [4] by DE Crompton · 2010 · Cited by 111 — Features such as a dreamlike sensation, fear, nausea, warmth, sweating, flushing and pallor were frequent accompaniments but in the absence of ... [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 and genetic form of epilepsy that affects the temporal lobe of the brain. Diagnosing FTLE can be challenging, but various diagnostic tests can help identify the condition.

• Genetic Testing: Genetic testing may be recommended to identify the underlying genetic mutation causing FTLE [2]. This test can detect single nucleotide and copy number variants in 319 genes associated with epilepsy [7].
• Imaging Studies: High-resolution MRI scans, SPECT (single-photon emission computed tomography), and MEG (magnetoencephalography) may be used to visualize the brain and identify any abnormalities [5, 9]. An EEG (electroencephalogram) is also indicated in all patients with suspected temporal lobe epilepsy [9].
• Clinical Evaluation: A thorough clinical evaluation by a healthcare provider may involve testing behavior, motor abilities, and mental function to assess the health of the brain and nervous system [13].

It's essential to note that a diagnosis of FTLE should be made by a qualified healthcare professional after a comprehensive evaluation. If you suspect you or a family member has FTLE, consult with a doctor for proper evaluation and guidance.

References: [1] Not applicable (this is the user's query) [2] Context #3 [7] Context #7 [9] Context #9 [13] Context #13

Treatment Options for Familial Temporal Lobe Epilepsy

Familial temporal lobe epilepsy (FTLE) is a type of epilepsy that runs in families and affects the temporal lobes of the brain. While there are various treatment options

Differential Diagnosis of Familial Temporal Lobe Epilepsy

Familial temporal lobe epilepsy (FTLE) is a rare and complex form of epilepsy that affects multiple family members. When diagnosing FTLE, it's essential to consider differential diagnoses to rule out other conditions that may present with similar symptoms.

Differential Diagnoses:

• Autosomal Dominant Partial Epilepsy with Auditory Features (ADPEAF): This condition is characterized by focal seizures with impaired consciousness and auditory features. While it can be distinguished from FTLE based on seizure semiology, genetic background, and MRI features [8], a thorough evaluation is necessary to rule out both conditions.
• Familial Focal Epilepsy with Variable Foci (FFEVF): This condition is marked by seizures with mesial temporal lobe features in all family members. However, familial mesial temporal lobe epilepsy cannot be distinguished from nonfamilial cases on the basis of clinical, EEG, or MRI findings [5].
• Other forms of focal epilepsy: Differential diagnoses include other forms of focal epilepsy, such as autosomal dominant sleep-related hypermotor epilepsy and familial focal epilepsy with variable foci (FFEVF) [9].

Key Considerations:

When considering differential diagnoses for FTLE, it's crucial to:

1. Evaluate the patient's medical history, including any family history of epilepsy.
2. Conduct a thorough neurological examination, including EEG and MRI studies.
3. Rule out other conditions that may present with similar symptoms.

By carefully evaluating these factors, healthcare professionals can accurately diagnose FTLE and develop an effective treatment plan for affected individuals.

References:

• [5]
• [8]
• [9]