autosomal dominant nocturnal frontal lobe epilepsy 1

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) is a rare genetic disorder that affects the brain's frontal lobe, causing seizures to occur predominantly at night. This condition is characterized by clusters of brief motor seizures arising in sleep with hyperkinetic or tonic manifestations.

• Seizure characteristics: Seizures in people with ADNFLE are typically short-lived (lasting from a few seconds to a few minutes) and can vary in intensity, ranging from simple arousal from sleep to dramatic muscle spasms and movements [1][2].
• Age of onset: This disorder often begins in childhood, with frequent violent and brief motor seizures occurring at night. It may be misdiagnosed as night terrors or other sleep-related disorders [3].
• Genetic inheritance: ADNFLE is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is sufficient to cause the condition [4][5].

References: [1] - Context result 6: This disorder causes seizures that usually occur at night (nocturnally) while an affected person is sleeping. [2] - Context result 7: Seizures in people with SHE are characterized by frequent brief hypermotor seizures in sleep. · The seizures can look like a simple arousal from sleep, at times ... [3] - Context result 4: It is characterized by childhood onset of frequent violent and brief motor seizures occurring at night. The disorder may be misdiagnosed as night terrors, ... [4] - Context result 5: Autosomal-dominant nocturnal frontal lobe epilepsy is a familial epilepsy characterized by frontal lobe seizures that typically occur at night. [5] - Context result 8: by SK Hwang · 2011 · Cited by 16 — Autosomal dominant nocturnal frontal lobe epilepsy is a familial partial epilepsy syndrome and the first human idiopathic epilepsy known to ...

Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a rare form of epilepsy that causes seizures during sleep. The symptoms of ADNFLE can vary from person to person, but here are some common signs and symptoms:

• Violent seizures: People with ADNFLE often experience violent seizures during sleep, which can involve complex motor movements such as hand clenching, arm raising/lowering, and knee bending [8].
• Complex motor movements: Seizures in ADNFLE can also involve other complex motor movements, such as vocalizations like shouting, moaning, or crying [8].
• Short-lasting seizures: Frontal lobe seizures associated with ADNFLE usually last a short time (less than 20 seconds), but they can happen in clusters [6].
• Increased risk of inheritance: If one of your parents has ADNFLE, you have a 50% chance of inheriting the disorder [4].

It's worth noting that the age of onset for ADNFLE varies between 3 and 47 years (usually 20 years), with a peak during childhood [5]. Additionally, people with ADNFLE may experience clusters of brief nocturnal motor seizures, with hyperkinetic or tonic manifestations arising from the frontal regions [12].

References:

[4] - Context #4 [5] - Context #5 [6] - Context #6 [8] - Context #8 [12] - Context #12

Based on the provided context, here are the diagnostic tests for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE):

Initial Evaluation

• A complete history and examination of a child or adult with suspected sleep-related hypermotor epilepsy is the first step [4].
• An EEG should be done to confirm the diagnosis [4].

Diagnostic Tests

• Video-EEG may be diagnostic when demonstrating electroclinical seizures of frontal lobe origin [6].
• Molecular genetic testing can reveal mutations in three genes: CHRNA4, CHRNB2, and CHRNA2 [8]. This test is used to confirm the diagnosis and identify the underlying genetic cause.

Additional Testing

• CNV analysis for the gene(s) on the panel may be performed as part of molecular genetic testing [5, 9].
• Exome-wide CNV analysis can also be done, but it requires an optional add-on [5].

It's worth noting that a clinical diagnosis of ADNFLE is established based on the presence of clinical features, EEG findings, and family history [1]. The diagnostic tests mentioned above are used to support this clinical diagnosis.

References: [1] H Kurahashi · 2023 [4] Apr 1, 2009 [6] [8] by SK Hwang · 2011 [5] [9]

Treatment Options for Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)

ADNFLE is a rare form of epilepsy characterized by seizures that occur during sleep. While the exact cause of ADNFLE is unknown, various treatment options are available to manage the condition.

• Anti-seizure medications: These are usually the first line of treatment for ADNFLE. Medications such as carbamazepine, oxcarbazepine, and topiramate have been shown to be effective in controlling seizures [1][3][7].
• Carbamazepine: This medication is particularly effective in treating nocturnal motor/dystonic frontal lobe seizures [6]. It has a remission rate of about 70% in patients with ADNFLE [1].
• Topiramate: Studies have shown that topiramate is an effective treatment for NFLE, with a high efficacy and tolerability profile [7][4].
• Other anti-seizure medications: Newer medications such as gabapentin, lamotrigine, levetiracetam, zonisamide, pregabalin, lacosamide, and eslicarbazepine have also been used to treat ADNFLE [8].

It's essential to note that each individual may respond differently to these treatment options. A healthcare professional can help determine the best course of treatment for a person with ADNFLE.

References: [1] by H Kurahashi · 2023 · Cited by 2 [3] by AM Kanner · 2007 · Cited by 5 [6] Sep 25, 2018 [7] by A Oldani · 2006 · Cited by 54 [8] Sep 25, 2018

Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE) can be challenging to diagnose, and it often requires a differential diagnosis with other conditions that present similar symptoms. Here are some key points to consider:

• Misdiagnosis as nightmares: ADNFLE is often misdiagnosed as nightmares or parasomnias due to the brief seizure clusters occurring during light sleep [5]. This highlights the importance of polysomnography (PSG) and video-EEG monitoring in diagnosing ADNFLE.
• Differential diagnosis with NFLE: There is no difference between sporadic nocturnal frontal lobe epilepsy (NFLE) and ADNFLE in terms of video-polysomnography findings [3]. This suggests that a correct differential diagnosis can be achieved through the use of video-PSG.
• Misdiagnosis as mental health disorders or sleep disorders: ADNFLE is often misdiagnosed as a mental health disorder, such as schizophrenia, or a sleep disorder due to its unusual behavioral and motor manifestations [9]. This emphasizes the need for a comprehensive evaluation, including PSG and video-EEG monitoring.
• Importance of nocturnal video-polysomnography: Nocturnal video-polysomnography is considered most helpful in differential diagnosis, as it can accurately diagnose ADNFLE and differentiate it from other conditions [7].

In summary, the differential diagnosis of ADNFLE involves considering a range of conditions that present similar symptoms. A comprehensive evaluation, including PSG and video-EEG monitoring, is essential to accurately diagnose ADNFLE and rule out other potential causes.

References: [3] Combi R (2004) Video-polysomnography allows a correct differential diagnosis. [5] [1,2] [7] [9]