Epilepsy Syndromes

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Epilepsy Syndromes

• Maja Ilic, MD
• Epileptologist
• Northeast Regional Epilepsy Group

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What is seizure and what is epilepsy?

• SEIZURE
• - Physiological Manifestation of an abnormal
  and excessive synchronized discharge of a set of
  neurons
• - Clinical Stereotypical, usually unprovoked,
  disturbance of consciousness, behavior, emotion,
  motor function or sensation as a result of the
  cortical neuronal discharge
• EPILEPSY 2 or more seizures

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• Provoked seizures
• High fever, febrile seizures
• Massive sleep deprivation
• Excessive use of stimulants
• Withdrawal from sedative drugs or alcohol
• Electrolyte disturbance
• Hypoxia
• Acute neurological illness

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Epidemiology

• gt 2 million people in US
• 125,000 new cases per year
• Cumulative incidence of epilepsy by age 80 3.1
• Cumulative incidence of seizures by age 80 11
• Many patients outgrow their epilepsy

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Historical background

• In an attempt to encompass a broader range of
  clinical features than is possible in a
  classification of seizure type
• ILAE published a Classifications of Epilepsies
  and Epileptic Syndromes in 1985 and revised it in
  1989

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Epilepsy syndromes

• Syndrome is a cluster of signs and symptoms that
  occur together but unlike a disease do not have a
  single known cause or pathology.
• Epileptic syndrome integrates all data, seizure
  type, EEG findings, age of onset, cause, family
  history, imaging studies, precipitating factors,
  etc. in order to make a final diagnosis of
  epilepsy.

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Most Common Epilepsy Syndromes in Children

• Childhood Absence Epilepsy
• Juvenile Absence Epilepsy
• Juvenile Myoclonic Epilepsy
• Benign Epilepsy of Childhood with Centrotemporal
  Spikes
• (Benign Rolandic Epilepsy)

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Childhood Absence Epilepsy
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Absence Epilepsy

• Generalized seizures
• Most common in the first decade, particularly
  ages 5-7 years of age

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• Clinical features
• Usual duration 10 seconds
• Ongoing activities cease
• Motionless with a fixed blank stare
• Attack ends suddenly, activity resumes
• Clinical features
• Occasionally mild clonic activity of
  eyelids, corner of mouth
• Automatisms elevation of eyelids, licking,
  swallowing, scratching movements of hands

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Absence Epilepsy

• Most patients with typical absence have normal
  development and normal neurological exam
• Generalized spikes on EEG
• Precipitated by hyperventilation in all untreated
  patients
• - Photic stimulation 15

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Absence Epilepsy

• 10 family history
• Average age when seizures stop is 10 years old
• Generally have a good prognosis
• resolves in 80 percent of cases

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• Treatment
• Ethosuximide
• Depakote
• Suppress absence in 80
• Lamotrigine

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Absence Epilepsy

• Atypical
• Complex automatisms
• Slower, 2.5 Hz spike-slow wave
• Focal and GTC seizures
• Developmental delay
• Abnormal background EEG

• Typical
• Simple automatisms
• 3 Hz spike-slow wave
• No other seizure type
• Normal exam
• Normal background EEG

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• Juvenile Absence Epilepsy

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Juvenile Absence Epilepsy

• Age of onset
• Near or after puberty
• Between 10-17 years
• Normal intelligence neurological exam

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Juvenile Absence Epilepsy

• Seizures types
• Absences
• Generalized tonic-clonic seizures- in 80
• (often shortly after waking)
• Myoclonic seizures- in 15
• GTC and myoclonic seizure more common and most
  likely to happen with awakening

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Juvenile Absence Epilepsy

• EEG
• Normal background
• Generalized spike wave discharges (faster, 4
  Hz)
• Induced by HV, not photic stimulation
• Treatment
• Depakote
• Lamictal

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Juvenile Absence Epilepsy

• Prognosis
• At least 80 of patients can be treated with
  Depakote alone
• Absences and GTC usually respond well to
  pharmacotherapy
• Unlike CAE (in which most patients become seizure
  free) the long term evolution of JAE has not been
  properly characterized

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Juvenile Myoclonic Epilepsy
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Juvenile Myoclonic Epilepsy

• Incidence
• 10 of all epilepsies
• Age of onset
• 1218 years
• Age of onset differs from age of diagnosis

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Juvenile Myoclonic Epilepsy

• Myoclonic jerks, generalized tonic-clonic
  seizures, and sometimes absence seizures
• Myoclonic seizures
• Jerks of neck, shoulder, arm or leg extensors
• Usually bilaterally symmetric synchronous
• More in upper extremities
• Drop objects, interfere in morning activities

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Juvenile Myoclonic Epilepsy

• Usual age at onset
• - Absence seizures is 7 -13 years
• - Myoclonic jerks, 12- 18 years
• - Generalized convulsions, 13 - 20 years

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Juvenile Myoclonic Epilepsy

• More likely to have seizures with sleep
  deprivation and alcohol ingestion
• Risk for seizures is lifelong
• Seizures recur when AEDs withdrawn
• Photic stimulation often provokes a discharge
• Seizures are usually well-controlled (Depakote,
  Lamictal)

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Benign Epilepsy of Childhood with Centrotemporal
Spikes Benign Rolandic Epilepsy
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BECT

• Age of onset
• Range 2 13 years
• 80 between 5 10 years (Peak 9 years)
• Typically resolves by age 16 years
• Normal intelligence and neurological exam
• Seizures usually happen after falling asleep or
  before awakening (75)

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BECT

• Most characteristic symptoms
• Sensorimotor phenomena of face
• Oropharyngeal Hypersalivation, guttural sounds,
  contraction of jaw, difficulty moving the tongue
  etc
• Speech arrest
• Clonic jerks at corner of mouth
• Clonic jerks of one arm
• No loss of consciousness
• Can have secondarily generalized convulsions

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BECT

• EEG Spikes in midtemporal and central head
  region
• More spikes in drowsiness and sleep
• 30 of cases show spikes only during sleep

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BECT

• BECTS spontaneously stop with or without
  treatment (good prognosis)
• If seizures are frequent and/or disturbing to
  patient and family, treatment with Tegretol or
  Trileptal (until 14-16, response)
• AEDs given in about 50 of cases
• Features suggesting risk of repeated seizures
• Short interval between 1st 2nd attacks
• Early onset

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Febrile Seizures

• Up to 4 of children
• Not epilepsy
• Often a family history, 10
• (chromosomes 8q, 19p)
• Seizures only occur with fever in children age 6
  months 6 years

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Febrile Seizures

• Simple
• - 1 brief seizure (generalized)
• Complex
• Prolonged
• More than 1
• Focal

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Febrile seizures

• 13 incidence of epilepsy if at least 2 factors
• History of non-febrile seizure
• Abnormal neurological exam or development
• Prolonged febrile seizure
• Focal febrile seizure

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Febrile seizures

• Recurrence risk
• Children with simple FS 30
• Children with complex FS 50
• Risk of epilepsy
• - With history of simple FS 2-4
• - With history of complex FS 6

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Febrile Seizures

• Increase risk of recurrence if 1st before 18
  months or lower temperature
• Focal need MRI, EEG
• Testing unnecessary with simple
• Treatment usually not necessary

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Epilepsy Prognosis

• Depends on seizure type
• Typical Absence 80 resolve
• JME- respond well to treatment but need meds for
  life
• Neurologically abnormal often difficult to
  control seizures

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Drug Refractoriness of Different Seizure Types

• Idiopathic partial 0-2
• Childhood absence 10-30
• Juvenile absence 10-35
• Primary GTCS 20-30
• Secondary GTCS 30-60
• CPS 40-60
• LGS 60-80
• Infantile spasms 60-80

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• Most patients (gt70) will have excellent seizure
  control with medications
• Some patients will continue to have seizures
  despite good medical therapy
• Ketogenic diet
• Vagal nerve stimulator
• Epilepsy surgery

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Treatment Goals

• Prevent recurrence of seizures
• Avoid side effects from AEDs
• Attain therapeutic levels
• Ensure compliance

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General Guidelines for Use of AEDs

• Select AED specific for seizure type and EEG
  findings
• Start with single drug
• Optimize AED
• Balance seizure control vs. toxicity
• Add second drug if first fails
• Anticipate medication interactions

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When to Treat After Single Seizure?

• Definitely
• With structural lesion
• Brain tumor
• Arteriovenous malformation
• Infection, such as abscess, herpes encephalitis
• Without structural lesion
• EEG with definite epileptic pattern
• History of previous seizure
• History of previous brain injury
• Status epilepticus at onset

• Possibly
• Unprovoked seizure
• Probably not (although short-term therapy may be
  used)
• Alcohol withdrawal
• Drug abuse
• Seizure in context of acute illness
• Postimpact seizure
• Specific benign epilepsy syndrome
• Seizure provoked by excessive sleep deprivation

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Medications

• Trileptal, Tegretol, Keppra, Depakote, Lamictal,
  Phenobarbital,Topamax, Ethosuximide
• Choice based on type of seizures, EEG findings,
  side effects, age and sex
• 2nd AED may be added if seizures not controlled

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Newer antiepiletic medications

• Lacosamide (Vimpat)
• Vigabatrin (Sabril)
• Rufinamide (Banzel)
• Perampanel (Fycompa)

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Conclusion

• Seizure type and diagnosis are only one element
  of a more comprehensive patient assessment that
  should result in a precise epilepsy syndrome
  diagnosis
• Only an accurate diagnosis of a specific epilepsy
  syndrome allows patients and physicians to
  examine all treatment options

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• www.epilepsyfoundation.org
• www.epilepsyadvocate.com
• www.paceusa.org
• www.epilepsy.com