familial temporal lobe epilepsy 6

Characteristics of Familial Temporal Lobe Epilepsy

Familial temporal lobe epilepsy, also known as familial mesial temporal lobe epilepsy (FMTLE), is a common focal epilepsy syndrome that typically begins in adolescence or adulthood. This type of epilepsy is characterized by seizures with mesial temporal semiology, including:

• Rising epigastric sensation
• Psychic and emotional disturbances
• Focal seizures originating from the medial temporal lobe

During these seizures, a person 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. These symptoms are often accompanied by a rising epigastric sensation, which can be a distinctive feature of this type of epilepsy.

References:

• [4] Overview of familial mesial temporal lobe epilepsy
• [5] Characteristics of familial mesial temporal lobe epilepsy
• [6] Description of seizure manifestations in familial temporal lobe epilepsy

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:

• Rising epigastric sensation: A feeling of rising or fluttering sensations in the stomach, which can spread to the chest or throat [5].
• Fear and anxiety: Many people experience feelings of fear, panic, or anxiety during seizures [2].
• Nausea and vomiting: Some individuals may feel queasy or vomit after a seizure [4].
• Auditory features: People with this condition often hear sounds such as buzzing, humming, or ringing during seizures [6].

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: [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 ... [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… [6] People with this condition typically hear sounds (auditory features), such as buzzing, humming, or ringing, during seizures. Some people hear more complex ...

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 can be challenging due to its rarity and the fact that there isn't one specific test for it. However, several diagnostic tests can help confirm the condition.

• Clinical evaluation: A thorough clinical evaluation is essential in diagnosing FTLE. This includes a detailed medical history, physical examination, and neurological assessment.
• Genetic testing: Genetic testing may be recommended to identify genetic mutations associated with FTLE. This can include tests such as DNA sequencing or chromosomal microarray analysis.
• Imaging studies: Imaging studies like magnetic resonance imaging (MRI) and computed tomography (CT) scans can help rule out other conditions that may cause similar symptoms. MRI is the neuroimaging modality of choice for temporal lobe epilepsy, especially coronal cuts [9].
• Electroencephalogram (EEG): An EEG can be used to record electrical activity in the brain and may show abnormal patterns associated with FTLE.
• Other diagnostic tests: Other diagnostic tests such as positron emission tomography (PET) scans or single-photon emission computed tomography (SPECT) scans may also be used to help diagnose FTLE.

It's essential to note that a combination of these tests, along with clinical evaluation and genetic testing, can provide a more accurate diagnosis of FTLE. However, the diagnostic process for FTLE is often complex and requires a multidisciplinary approach involving neurologists, geneticists, and other healthcare professionals [7].

References: [6] Temporal lobe epilepsy starts in your temporal lobe ... Genetic factors (family history) or genetic mutations. ... Tests that are used in diagnosing temporal lobe ... [8] Familial temporal lobe epilepsy ... A rare, genetic epilepsy characterized by mostly benign simple or complex partial seizures with autonomic or psychic auras. [9] Dec 31, 2022 — Other imaging modalities that can be used in the diagnosis of temporal lobe epilepsy include computed tomography (CT) scanning, positron ... [7] Testing Algorithm. Delineates situations when tests ... Familial mesial temporal lobe epilepsy. Febrile ... Comprehensive diagnostic genetic testing is ...

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 inherited. While there are various treatment options available, drug therapy remains the primary approach.

According to medical literature [5], it is rare for seizures to continue after drug treatment, with only 10-20% of cases experiencing persistent seizures. However, in some individuals, medication alone may not be sufficient to achieve seizure control.

The following medications have been used to treat familial temporal lobe epilepsy:

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

It's essential to note that each individual may respond differently to these medications, and a healthcare professional can help determine the most effective treatment plan [4].

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 ...

[6] Used to treat · Brivaracetam · Cannabidiol oral solution · Carbamazepine · Carbamazepine-XR · Cenobamate · Clobazam · Clonazepam · Diazepam Nasal ...

Differential Diagnosis of Familial Temporal Lobe Epilepsy

Familial temporal lobe epilepsy (FTLE) can be challenging to diagnose, and it's essential to consider differential diagnoses to ensure accurate identification. According to various sources [4, 8, 9], the following conditions should be considered in the differential diagnosis of FTLE:

• Other forms of focal epilepsy: These include autosomal dominant sleep-related hypermotor epilepsy (ADHRE) and familial focal epilepsy with variable foci (FFEVF).
• Hippocampal epilepsy: This condition is characterized by seizures originating from the hippocampus, which can be a key differentiating feature from FTLE.
• Structural brain abnormalities: Congenital or acquired structural abnormalities in the temporal lobe can also cause seizures and should be considered in the differential diagnosis.

It's crucial to note that misdiagnosis of seizures as benign nocturnal parasomnias, night terrors, nightmares, or psychiatric and medical disorders is common [11], highlighting the importance of accurate differential diagnosis.