Epilepsy Syndromes and Causes
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Questions and Answers

What is the first-line medication recommended for a patient experiencing seizures?

  • IV Flumazenil
  • IV Lorazepam (correct)
  • IV Levetiracetam
  • Sublingual Nitrate
  • What is the maximum dose of IV Lorazepam that can be administered for a patient during a seizure?

  • 10 mg
  • 2 mg
  • 6 mg
  • 4 mg (correct)
  • If IV access is not available, which alternative medication can be considered for seizure management?

  • Flumazenil IV
  • Oral Diazepam
  • Buccal Midazolam (correct)
  • Sublingual Nitrate
  • During the initial management of a seizure, what is an important step to take besides medication?

    <p>Take blood for various profiles</p> Signup and view all the answers

    What should be done first when a patient is seizing for the first time?

    <p>Stabilize the patient and secure the airway</p> Signup and view all the answers

    Which genetic mutation is associated with Dravet syndrome?

    <p>SCN1A</p> Signup and view all the answers

    What is a common cause of acute symptomatic seizures?

    <p>Metabolic encephalopathy</p> Signup and view all the answers

    Which of the following factors is NOT typically recognized as a seizure trigger?

    <p>Regular exercise</p> Signup and view all the answers

    How do acute seizures generally differ from epilepsy in terms of causation?

    <p>Acute seizures can be provoked but epilepsy is always unprovoked.</p> Signup and view all the answers

    What is one way that hypoxia can contribute to the development of epilepsy?

    <p>It leads to an imbalance between excitation and inhibition in neuronal networks.</p> Signup and view all the answers

    Which syndrome is associated with autosomal dominant epilepsy with auditory features?

    <p>Autosomal dominant epilepsy with auditory features</p> Signup and view all the answers

    What risk factor is commonly linked to increased seizures in individuals with epilepsy?

    <p>Stress</p> Signup and view all the answers

    Which of the following correctly describes the characteristics of the neurons in the epileptogenic focus?

    <p>They are characterized by hyperexcitation.</p> Signup and view all the answers

    What step should be taken if a patient is still seizing after 10 minutes?

    <p>Contact ICU for further management and consider infusions.</p> Signup and view all the answers

    When should chronic treatment with anti-epileptic drugs be initiated?

    <p>After two or more unprovoked seizures or one seizure with specific criteria.</p> Signup and view all the answers

    Which condition does NOT warrant the start of chronic anti-epileptic medication after a first seizure?

    <p>Daily occurrence of intense headaches.</p> Signup and view all the answers

    What should patients be educated about regarding their medications?

    <p>The side effects of medications and management of triggers.</p> Signup and view all the answers

    What specific activity should patients be counseled about to avoid danger due to potential sudden loss of consciousness?

    <p>Working at heights.</p> Signup and view all the answers

    What is the initial intravenous dose of Magnesium Sulphate for treatment?

    <p>4g over 5 to 15 minutes</p> Signup and view all the answers

    What is the maximum dose of Lorazepam per administration?

    <p>4 mg</p> Signup and view all the answers

    What alternative administration route is recommended for midazolam if IV access is unavailable?

    <p>Intramuscular</p> Signup and view all the answers

    What is the maximum infusion rate for Phenytoin?

    <p>50 mg/min</p> Signup and view all the answers

    What should be done if the patient continues to experience seizures after the second therapy phase?

    <p>Call ICU/Anaesthesia</p> Signup and view all the answers

    Which of the following is an alternative option for second line therapy for ongoing seizures?

    <p>IV sodium valproate</p> Signup and view all the answers

    What is the recommended volume of Normal Saline for a Phenytoin dose greater than 1g?

    <p>250 ml</p> Signup and view all the answers

    How should Levetiracetam be infused?

    <p>In a 100ml bag of Normal Saline over 15 minutes</p> Signup and view all the answers

    What is the minimum seizure-free period required for Group 1 drivers in Ireland after a first unprovoked seizure?

    <p>6 months</p> Signup and view all the answers

    What is the primary goal in the treatment of epilepsy?

    <p>Control seizures without side effects</p> Signup and view all the answers

    Which of the following may benefit from epilepsy surgery?

    <p>Patients with seizures that are poorly controlled on medical treatment</p> Signup and view all the answers

    What type of epilepsy is characterized by stiffness and nighttime incontinence in a 45-year-old with intellectual disability?

    <p>Generalized epilepsy</p> Signup and view all the answers

    Which co-morbidity is mentioned for a 29-year-old with focal epilepsy and memory issues?

    <p>Depression</p> Signup and view all the answers

    What is one consideration when treating epilepsy in women of childbearing age?

    <p>Potential drug interactions during pregnancy</p> Signup and view all the answers

    Which of these would be indicated for epilepsy with a clearly defined focus?

    <p>Epilepsy surgery</p> Signup and view all the answers

    At what age is a 6-year-old child indicated for treatment of typical absence seizures?

    <p>6 years</p> Signup and view all the answers

    Which factor is NOT typically considered when treating a patient with epilepsy?

    <p>Height of the patient</p> Signup and view all the answers

    What is one future development in the treatment of epilepsy mentioned?

    <p>Focus on parenteral formulations</p> Signup and view all the answers

    Which genetic mutation is primarily associated with autosomal dominant nocturnal frontal lobe epilepsy?

    <p>CHRNA2</p> Signup and view all the answers

    What best defines epilepsy?

    <p>Recurrent unprovoked seizures or one with EEG evidence</p> Signup and view all the answers

    What factor is NOT recognized as a common seizure trigger?

    <p>Bright sunlight</p> Signup and view all the answers

    Which of the following types of seizure onset indicates bilateral brain involvement?

    <p>Generalized onset</p> Signup and view all the answers

    Which of these is a cause of unprovoked seizures leading to epilepsy?

    <p>Cerebrovascular disease</p> Signup and view all the answers

    Which statement about provoked seizures is accurate?

    <p>They may not imply a future risk of epilepsy.</p> Signup and view all the answers

    What is commonly considered a potential outcome of hypoxia related to seizure activity?

    <p>Increased neurotransmitter release</p> Signup and view all the answers

    Which of the following is most likely to contribute to the hyperexcitation of neurons in the epileptogenic focus?

    <p>Alkalosis</p> Signup and view all the answers

    How is awareness classified in seizure types?

    <p>Awareness level can be either impaired or preserved.</p> Signup and view all the answers

    What describes the typical characteristic of neurons within the epileptogenic focus?

    <p>Lower thresholds for stimulation</p> Signup and view all the answers

    Which of the following correctly describes unprovoked seizures?

    <p>They occur in relation to underlying neurological disorders.</p> Signup and view all the answers

    What is a common feature of remote symptomatic seizures?

    <p>They are determined to be linked to underlying brain lesions.</p> Signup and view all the answers

    Which syndrome is associated with various de novo mutations including DNM1?

    <p>Lennox-Gastaut syndrome</p> Signup and view all the answers

    Which of the following factors is considered a direct cause of acute symptomatic seizures?

    <p>Metabolic encephalopathy</p> Signup and view all the answers

    What does the term 'cerebral cortex' refer to in relation to epilepsy?

    <p>The region responsible for the electrical discharges causing seizures.</p> Signup and view all the answers

    Which of the following is NOT a typical characteristic of epilepsy as a disorder?

    <p>Fixed, unchanging prognoses.</p> Signup and view all the answers

    What is the gold standard for confirming a diagnosis of epilepsy?

    <p>Inpatient video-EEG monitoring</p> Signup and view all the answers

    Which medication is first-line for the emergency management of a seizure lasting more than five minutes?

    <p>Diazepam PR</p> Signup and view all the answers

    If a patient is suspected to have meningitis, which procedure is essential to perform before a lumbar puncture (LP)?

    <p>Non-contrast CT scan</p> Signup and view all the answers

    Which factor is critical in the management of a patient in status epilepticus?

    <p>Providing supplemental oxygen</p> Signup and view all the answers

    What is a potential result of a normal EEG following a patient's first seizure?

    <p>Common in initial evaluations of first seizures</p> Signup and view all the answers

    During which testing phase can sleep deprivation be used for increased yield in EEG results?

    <p>Provocation testing</p> Signup and view all the answers

    In what situation is MRI considered more sensitive than CT imaging?

    <p>When evaluating for intracranial lesions</p> Signup and view all the answers

    Which condition may progress to seizures if not treated appropriately during pregnancy?

    <p>Pre-eclampsia</p> Signup and view all the answers

    What is the maintenance dose of Magnesium Sulphate after the initial intravenous administration?

    <p>1 g/hour</p> Signup and view all the answers

    Which option represents the correct administration route for midazolam for patients weighing less than 40kg if IV access is not available?

    <p>Intramuscular</p> Signup and view all the answers

    What is the maximum dose of IV Levetiracetam that can be administered during the second therapy phase?

    <p>4.5 g</p> Signup and view all the answers

    What is the minimum infusion rate for Phenytoin during the second therapy phase?

    <p>50 mg/min</p> Signup and view all the answers

    If a patient continues seizing after administering the secondary therapies, which specialty should be contacted?

    <p>ICU/Anaesthesia</p> Signup and view all the answers

    For a seizure requiring Levetiracetam infusion, what is the recommended volume of Normal Saline for an infusion of 1 g?

    <p>100 ml</p> Signup and view all the answers

    What is the maximum dose of IV sodium valproate that can be administered during the second therapy phase?

    <p>3 g</p> Signup and view all the answers

    What is the correct administration time for Levetiracetam IV infusion?

    <p>15 minutes</p> Signup and view all the answers

    What is a significant reason for starting chronic treatment with anti-epileptic drugs after a single seizure?

    <p>The patient has a brain tumor identified through neuroimaging.</p> Signup and view all the answers

    Which intervention should be undertaken if a patient continues to seize after 20-60 minutes of therapy?

    <p>Contact the ICU for further management considerations.</p> Signup and view all the answers

    What critical aspect should be included in patient education regarding the management of seizures?

    <p>Discuss the importance of sleep hygiene and medication compliance.</p> Signup and view all the answers

    Which of the following factors generally does NOT necessitate the start of chronic anti-epileptic medication after a single seizure?

    <p>The patient has a transient stress-induced seizure with no additional risk factors.</p> Signup and view all the answers

    What should be indicated for a patient after experiencing recurrent seizures if no immediate pharmacological intervention was effective?

    <p>Perform continuous EEG monitoring in hospital.</p> Signup and view all the answers

    Study Notes

    Epilepsy Syndromes

    • Epilepsy syndromes are classified by age of onset, seizure type, EEG patterns, causes, and associated conditions.
    • Many syndromes arise from specific gene mutations.
    • Examples of epilepsy syndromes and their associated genes include:
      • Autosomal dominant nocturnal frontal lobe epilepsy (NFLE) - CHRNA2 gene
      • Autosomal dominant epilepsy with auditory features - LGI1 gene
      • Juvenile myoclonic Epilepsy - Complex gene mutations
      • Childhood Absence Epilepsy - Complex gene mutations
      • Dravet syndrome - SCN1A gene
      • Lennox-Gastaut syndrome - Various de novo mutations, including DNM1 and SLC6A1 genes

    Epilepsy Causes and Risk Factors

    • Acute symptomatic seizures (provoked seizures):
      • Acute hemorrhagic and ischemic stroke
      • Metabolic encephalopathy
      • Drugs and alcohol
      • Other factors like head trauma, active intracranial infections
    • Epilepsy (unprovoked seizures):
      • Cerebrovascular disease (stroke, vascular malformations)
      • Dementia
      • Brain tumors, remote head trauma, prior intracranial infections
    • Unknown causes: A significant portion of epilepsy cases have undetermined causes.

    Seizure Triggers and Risk Factors

    • Lack of sleep
    • Alcohol abuse
    • Medications: missed doses, new medications causing interactions with anti-seizure medications (ASMs)
    • Stress
    • Acute illnesses and fever
    • Dehydration
    • Head injury
    • Stroke
    • Flashing lights (photosensitive epilepsy occurs in 3-5% of all epilepsy cases)
    • Loud noise or music (reflex epilepsy)

    Epilepsy Pathophysiology

    • Seizures and epilepsy are caused by an imbalance between excitation and inhibition in the central nervous system.
    • This imbalance arises from hyperexcitation and hypersynchronization of neuronal networks.
    • Hypoxia, alkalosis, hypoglycemia, and abnormal neurotransmitter properties contribute to this imbalance, leading to seizure activity.

    Epilepsy Management

    • First-line treatment: Benzodiazepines (diazepam, midazolam, lorazepam)
    • Second-line treatment: Levetiracetam or phenytoin
    • Third-line treatment: Midazolam, propofol, or barbiturate agents
    • Non-convulsive status epilepticus: Commonly seen in critically ill patients in the ICU
    • Chronic Treatment with Anti-epileptic Drugs (AEDs):
      • Usually not necessary after a single seizure, especially if provoked by resolved factors.
      • Started in patients with a high risk of recurrent seizures.
      • Generally started after two or more unprovoked seizures.
      • May be started after one seizure if:
        • Epileptiform abnormalities on EEG
        • Remote symptomatic cause of epilepsy
        • Abnormal neurological examination
        • First seizure during sleep
    • Patient Education:
      • Side effects of medications
      • Management of triggers (sleep hygiene, alcohol, medication compliance)
      • Counseling regarding unsupervised activities that could pose danger with sudden loss of consciousness (working at heights, machinery, hot surfaces, swimming alone)
      • Information on SUDEP (sudden unexplained death in epilepsy)
      • Driving restrictions:
        • Group 1 drivers (car, motorcycle, tractor) must stop driving for one year after a seizure.
        • After one unprovoked seizure, Group 1 drivers must be seizure-free for six months before driving and must undergo a medical evaluation to determine fitness to drive.
    • Treatment Approaches:
      • Ideally, one drug appropriate to the diagnosis should be used.
      • About two-thirds of new epilepsy diagnoses are successfully controlled with the first AED.
      • Goal is to achieve seizure-free status without adverse side effects.
      • Treatment considerations include:
        • Interactions with other medications
        • Co-morbid medical conditions (renal, hepatic disease)
        • Age of the patient
        • Women of childbearing age/pregnancy
        • Lifestyle and patient preferences
        • Cost
    • Other Treatment Options:
      • Epilepsy surgery: Considered for patients with poorly controlled seizures. Requires a clearly defined seizure focus. Especially helpful for seizures from structural abnormalities. Can potentially cure some forms of epilepsy.
      • Vagal nerve stimulation/Devices: Implanted device that sends regular electrical pulses to the vagus nerve, helping to regulate brain activity and prevent seizures.
      • Dietary therapies: Ketogenic diet is a high-fat, low-carbohydrate diet that can help control seizures in some individuals.

    Future Developments in Epilepsy Treatment and Management

    • Newer AEDs
    • Parenteral formulations
    • Direct comparison trials
    • Cost considerations
    • Pharmacogenetics (personalized treatment based on individual genetic makeup)
    • Laser surgery
    • Neurostimulation
    • Precision medicine

    Common Epilepsy Syndromes

    • Case 1: 16-year-old with morning jerks, daydreaming spells, and generalized tonic-clonic seizures (GTC) after alcohol consumption.
      • Epilepsy type: Generalized
      • Seizure types: Myoclonic, Absence, GTC
      • Cause: Genetic
      • Co-morbidity: Migraine
    • Case 2: 29-year-old with febrile seizures as an infant, déjà vu and fear auras, and GTC seizures from sleep.
      • Epilepsy type: Focal
      • Seizure types: Psychic aura, automatism, GTC
      • Cause: Mesial temporal sclerosis
      • Co-morbidities: Memory loss, depression
    • Case 3: 45-year-old with intellectual disability, autism, nocturnal stiffening episodes, and other episodes of unawareness, restlessness, and agitation.
      • Epilepsy type: Generalized and Focal
      • Seizure types: Generalized tonic, atypical absence, atonic seizures
      • Cause: Unknown, DNM1 gene mutation
      • Co-morbidities: Intellectual disability (ID)
    • Case 4: 6-year-old with episodes of zoning out, difficulty keeping up in school, and eye fluttering/activity arrest.
      • Epilepsy type: Generalized
      • Seizure types: Typical absence
      • Cause: Genetic
      • Co-morbilities: ADHD
    • Case 5: 78-year-old with a left frontal stroke 18 months ago. Experiences right arm jerking and confusion.
      • Epilepsy type: Focal
      • Seizure type: Right arm clonic seizure
      • Cause: Post-stroke epilepsy
      • Co-morbidities: Right hemiparesis

    What is Epilepsy?

    • Epilepsy is a disorder of the central nervous system (CNS) characterized by recurrent seizures.
    • Seizures are caused by excessive electrical discharge from the cerebral cortex.
    • The International League Against Epilepsy (ILAE) defines epilepsy as at least two unprovoked seizures, or one seizure with electrographic (EEG) evidence of epileptiform activity.
    • Epilepsy affects approximately 1% of the population worldwide.
    • Epilepsy is a heterogeneous disorder with variable causes, seizure types, syndromes, and prognoses.

    Types of Epilepsy

    • Epilepsy can have either focal or generalized onset.
    • Focal onset seizures begin in a specific area of the brain.
    • Generalized onset seizures involve both sides of the brain.
    • Unknown onset seizures have unclear origins.
    • Awareness level during a seizure determines if the individual is aware of their surroundings.
    • Motor or non-motor describes whether movement is involved in a seizure.

    Causes of Epilepsy

    • Acute symptomatic seizures (provoked seizures) can be triggered by:
      • Acute hemorrhagic and ischemic stroke
      • Metabolic encephalopathy
      • Drug and alcohol intoxication/withdrawal
      • Recent head trauma
      • Active intracranial infections
    • Epilepsy (unprovoked seizures) can be caused by:
      • Cerebrovascular disease
      • Dementia
      • Brain tumors
      • Remote head trauma
      • Prior intracranial infection
    • Unknown causes are also common.

    Seizure Triggers and Risk Factors

    • Lack of sleep
    • Alcohol abuse
    • Missed doses or starting a new medication that interacts with anti-seizure medication (ASM)
    • Stress
    • Acute illnesses and fever
    • Dehydration
    • Head injury
    • Stroke
    • Flashing lights (photosensitive epilepsy)
    • Loud noise or music (reflex epilepsy)

    Chronic Treatment with Anti-Epileptic Drugs

    • Anti-epileptic drugs (AEDs) are usually not necessary after a single seizure, especially if provoked by factors that resolve.
    • AEDs are typically prescribed after:
      • Two or more unprovoked seizures
      • One seizure with:
        • Epileptiform abnormalities on EEG
        • A remote symptomatic cause (e.g., brain tumor, brain malformation)
        • Abnormal neurologic examination
        • A first seizure that occurs during sleep

    Management of Epilepsy

    • Investigations
      • Neuroimaging: Non-contrast CT Brain followed by MRI brain
      • EEG: Used to support the diagnosis of epilepsy, but a normal EEG does not exclude epilepsy.
      • LP: Suspected intracranial infection or inflammatory disease
      • Metabolic/Genetic studies: Help determine potential causes and guide treatment.
    • Patient Education:
      • Side effects of medication
      • Management of triggers (e.g., sleep hygiene, alcohol)
      • Counseling about activities that might pose danger with sudden loss of consciousness.

    Status Epilepticus

    • Prolonged seizure lasting over 5 minutes, or a series of seizures with incomplete recovery of consciousness.
    • A medical emergency requiring immediate intervention.
    • May be caused by acute symptomatic (metabolic/structural) factors.
    • Emergency management includes:
      • 1st Line: Benzodiazepines (diazepam PR, midazolam buccal, lorazepam IV)
      • 2nd Line: Levetiracetam IV, phenytoin IV, valproate IV
      • 3rd Line: Phenobarbital and propofol infusion, general anesthesia

    Support for Status Epilepticus

    • Maintain the patient's airway, breathing, and circulation (ABCs).
    • Provide oxygen via a non-rebreather mask. 
    • Position the patient on their left side to reduce the risk of aspiration.

    Management of Status Epilepticus: Step-by-Step Guide

    • Initial Phase: Give IV Magnesium Sulfate (4g over 5-15 min, followed by 1g/hr for 24 hours). Repeat IV Lorazepam (0.1mg/kg; max 4mg). If no IV access, give IM midazolam (10mg; 5mg for patients under 40kg and elderly).
    • Second Phase: Give Levetiracetam IV (60mg/kg; max 4.5g) or Phenytoin IV (20mg/kg; max 2g).
    • Third Phase: If seizures continue, contact ICU/anesthesia for infusion of midazolam, propofol, or barbiturate agents.

    Key Terms

    • Provoked seizure: Seizure caused by a known trigger.
    • Unprovoked seizure: Seizure with no identifiable cause.
    • Remote symptomatic seizure: Seizure associated with a previous brain injury or disorder.
    • Onset: Point in the brain where the seizure originates.
    • Awareness level: Whether the individual is conscious during a seizure.
    • Motor or non-motor: Whether movement occurs during a seizure.
    • Electroencephalography (EEG): A test that records electrical activity in the brain.
    • Anti-seizure medication (ASM): Medication used to prevent or reduce seizures.
    • Status epilepticus: A medical emergency characterized by a prolonged seizure or continuous series of seizures.

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    7 Med Epilepsy PDF

    Description

    This quiz covers various epilepsy syndromes, their genetic causes, and risk factors associated with seizures. Explore the classification of epilepsy based on age, seizure type, and EEG patterns, along with examples of syndromes and their related genes. Test your knowledge on acute and unprovoked seizures.

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