1. PEDIATRIC EPILEPSY SYNDROMES
KAZI I. MAJEED, MD

2. SYNDROME
A combination of symptoms occurring together as to constitute a distinct clinical picture.

3. EPILEPSY SYNDROME
A combination of seizure type, seizure location (for partial seizures), EEG features, age of onset and related symptoms.

4. NEONATAL EPILPESY SYNDROMES
BENIGN NEONATAL CONVULSIONS
Onset day 5 (5th day fits)
Seizures are clonic. May present as status epilepticus.
Associated with apnea.
Diagnosis of exclusion.
Normal development.

5. BENIGN FAMILIAL NEONATAL EPILEPSY
Onset 2nd or 3rd day of life but may be delayed for a few weeks.
Autosomal dominant.
Multiple seizure types which are very frequent.
Inter ictal EEG normal.
KCNQ2/KCNQ3 mutations.
Remit in a few months.

6. ONSET IN INFANCY
EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY (OHTAHARA SYNDROME)
Tonic spasms are the dominant type.
10->100 in a day.
Burst suppression on EEG.
High rate of mortality.

7. KCNQ2 ENCEPHALOPATHY Onset within first few months.
Myoclonic or tonic seizures.
Burst suppression on EEG.
Neurodevelopmental decline.

8. GENETIC EPILEPSY WITH FEBRILE SEIZURES PLUS
Febrile seizures initially but continue to have seizures triggered with fever after age 6.
Also develop afebrile GTC seizures.
SCN1A/1B mutation.

9. WEST SYNDROME Onset 4-6 months.
Unique type of seizures. Sudden, tonic contractions of trunk and limbs.
Usually flexor.
Maybe asymmetric.
Could be very subtle.
Occur in clusters.
Predominantly occur on arousal.
Occasionally focal seizure may be associated with a cluster.

10. INTER ICTAL EEG: Hypsarrhythmia.
Disorganized background, very high voltage slowing and multifocal spikes.
ICTAL EEG:
Most common pattern is a high voltage, generalized slow wave followed by generalized attenuation (decremental response)
Multiple causes.
Prognosis depends on the etiology.

11. BENIGN MYOCLONIC EPILEPSY
Onset between 6 months to 2 years of age.
Myoclonic jerks are the only type of seizures.
Generalized epileptiform discharges on EEG. Must record during sleep as awake EEG can be normal.
Development of children is normal.
Usually remit within 6 months to 5 years from the onset.

12. DRAVET SYNDROME (Severe Myoclonic Epilepsy of Infancy)
Develops in normal children during first year of life.
Progressive epileptic encephalopathy.
SCN1A mutation
Usually start with febrile seizures which are atypical because:
Early onset
Clonic
Can be unilateral

13. Subsequently develop myoclonic, atypical absence and complex partial seizures.
Seizures sensitive to raised body temperature.
EEG progressive slowing. Both generalized and focal epileptiform discharges.
Seizures are intractable.
Decline in cognitive and neurological function.

14. ONSET IN CHILDHOOD ABSENCE EPILEPSIES CHILDHOOD ABSENCE
Onset 4-7 years of age.
Otherwise normal children.
Episodes of sudden impairment of consciousness manifesting as staring.
May have automatisms.
Average duration 4-10 seconds.
Induced by hyperventilation.
Generalized 3 Hz spike wave
Favorable prognosis.

15. MYOCLONIC ABSENCE
Rare.
Boys predominate.
Impairment of consciousness with rhythmic myoclonic jerks of shoulders and arms.
Generalized rhythmic 3 Hz spike wave.
Difficult to treat.

16. EARLY ABSENCE Onset before 4 years of age.
Seizures could be refractory.
Generalized spike wave.
SLC2A1 mutation

17. JUVENILE ABSENCE Usual onset 9-13 years
Start with typical absence seizures.
Almost all develop GTCS within a few years.
20% may have mild myoclonic jerks.
Lifelong disorder.

18. BENIGN FOCAL EPILEPSIES
BENIGN CHILDHOOD EPILEPSY WITH CENTROTEMPORAL SPIKES (BENIGN ROLANDIC EPILEPSY)
Majority start having seizures between 7-9 years of age.
Usually nocturnal.
Hemifacial clonic contractions with preserved consciousness.
Hypersalivation.
Speech arrest.

19. Half of children may have GTC seizures.
Occasional simple partial sensory seizures pertaining to oropharynx.
EEG shows high amplitude spikes in central/mid temporal electrodes.
Spikes can be unilateral/bilateral.
Marked activation in sleep.
Some children may develop language and behavioral abnormalities.
For vast majority prognosis is good as remission occurs by age 16.

20. BENIGN OCCIPITAL EPILEPSY
Onset around 8 years of age.
Elementary visual hallucinations (colored patterns) moving in visual field.
At times there may be temporary blindness.
Consciousness is preserved.
Half of patients develop a migraine like headache afterward.
Majority achieve remission in a few years.

21. PANAYIOTOPOULOS SYNDROME
Peak age of onset 3-6 years.
Predominantly autonomic symptoms.
Usually start in sleep. Manifest as nausea, retching and vomiting. Turn pale.
Consciousness preserved.
Episodes are prolonged, 30 minutes to > an hour.
Ictal syncope.
May progress to more conventional seizure symptoms.

22. EEG occipital/multifocal spikes.
Probably under diagnosed.
Remission in a few years.

23. LENNOX-GASTAUT SYNDROME
Combination of multiple seizure types, slow spike wave with abnormal background.
Preexisting developmental/neurological abnormalities
West syndrome usually evolves into LGS.
TONIC seizures are the hallmark.
Could be subtle; raising of eye brows or tonic upward deviation of eyes.

24. Or involve axial and limb muscles.
ATYPICAL ABSENCE
Clouding of consciousness which may be difficult to detect clinically.
ATONIC SEIZURES
Sudden loss of postural tone for a few seconds.
MYOCLONIC JERKS

25. DROP ATTACKS
Falls resulting from atonic or tonic seizures.
EEG slow <2.5 Hz generalized spike wave, paroxysmal fast activity on a slow background, multifocal spikes.
Seizures are intractable.

26. EPILEPSY WITH MYOCLONIC ATONIC SEIZURES (DOOSE SYNDROME)
Predominantly in boys.
Onset 2-4 years of age.
Normal development.
May have febrile seizures.
Myoclonic jerks immediately followed by loss of tone.
Absence seizures also occur frequently.
EEG shows generalized Hz SW/PSW.
SLC2A1 mutation.
Prognosis is variable.

27. LANDAU-KLEFFNER SYNDROME (Acquired Epileptic Aphasia)
Onset 3-6 years of age.
Boys affected more.
Normal cognitive and language development prior to onset.
Language regression in all.
Verbal auditory agnosia (word deafness)

28. Misdiagnosed as having Autism or Hearing Loss.
Seizures occur in half of the patients.
Seizures are infrequent.
EEG shows posterior temporal discharges with marked activation in sleep.
Prognosis is variable.

29. EPILEPSY WITH CONTINUOUS SPIKE WAVE DURING SLOW WAVE SLEEP (CSWS/ESES)
One third have pre existing neurological abnormalities.
Infrequent nocturnal focal motor seizures 4-5 years of age.
Over time seizures become more frequent and of different types.
Associated with neuropsychological impairment.

30. EEG shows bilateral continuous spike wave as patient enters sleep and persist during non REM sleep.
Over time seizures remit but neuropsychological problems persist.

31. AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY
Onset 7-12 years of age.
Frequent , almost daily clusters of second long nocturnal motor seizures.
No post ictal state.
EEG not helpful.
Mutation CHRNA4

32. ONSET IN ADOLESCENCE JUVENILE MYOCLONIC EPILEPSY (JANZ SYNDROME)
Myoclonic jerks years of age. Usually on awakening
GTCS follow in 90%.
1/3 have absence seizures also.
Generalized irregular 3-6Hz SW/PSW.
Focal spikes are common.
Most patients can be well controlled.
Usually a life long disorder.

33. HOW DOES IT HELP?
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PHYSICIANS