This document provides an overview of various epilepsy syndromes classified by onset in the brain and cause of seizures. It describes several generalized and focal epilepsy syndromes including childhood absence epilepsy, juvenile myoclonic epilepsy, benign epilepsy with centrotemporal spikes, Panayiotopoulos syndrome, autosomal dominant nocturnal frontal lobe epilepsy, Doose's syndrome, Dravet's syndrome, infantile spasms/West syndrome, Lennox-Gastaut syndrome, and Ohtahara syndrome. For each syndrome, it covers key characteristics, EEG findings, treatment approaches, and typical prognosis.

1. S A B A H M A D , M D
EPILEPSY SYNDROMES

2. EPILEPSY CLASSIFICATION
• International League Against Epilepsy (ILAE) 2010
revised the classification scheme
• Seizures are classified by ONSET in the brain and the
cause of the seizures

3. ONSET IN THE BRAIN (EEG)
• Generalized
• Absence
• Myolconic
• Tonic
• Clonic
• Atonic
• Generalized tonic-
clonic
• Focal
• Seizure semiology is
critical
• Secondary
generalization
• Epileptic spasms
• Unknown
• All other seizure
type/not categorized

4. ETIOLOGY
• Genetic (or presumed genetic)-SPECIFIC EPILEPSY
GENES, where EPILEPSY is the primary manifestation
like SCN1A, ADNFLE (this category does not include
many SYNDROMES like TS, or some genetic causes
of cortical malformations)
• Structural/Metabolic-tubers (caused by TS), cortical
malformations (possibly caused by a genetic
disorder), strokes, abscess, tumors, etc
• Unknown cause
• COMMON EPILEPSY SYNDROMES are NOT insisted
upon by the official classifications (but they are still
clinically very useful

5. GENERALIZED SEIZURES
• On EEG-these start in the WHOLE BRAIN all at once
• Examples-Childhood absence epilepsy, Juvenile
myoclonic epilepsy
• Sometimes there are features on EEG to help
distinguish epilepsy syndromes

6. FOCAL SEIZURES
• On EEG, seizures CLEARLY start in one part of the
brain
• Seizures can stay focal or spread
• Sometimes there is secondary generalization

7. CHILDHOOD ABSENCE EPILEPSY (CAE)
• GENERALIZED EPILEPSY
• Onset between 4-10 years (peak onset 5-7 years)
• Frequent typical absence seizures: short staring spells
(less than 20 seconds), occasionally with other features:
automatisms of hands or mouth, eye fluttering
• Neurological development is normal
• More prevalent in girls (60-70% affected patients are
girls)
• Onset of seizures often accompanies a decline in school
performance
• Seizures brought out by hyperventilation

8. EEG CHARACTERISTICS: VERY REGULAR 3 HERTZ
SPIKE-SLOW WAVE DISCHARGES

9. TREATMENT OF CAE
• Ethosuximide (only useful in this disorder)
• Lamotrigine
• Valproic acid
These are considered equivalent (pick your side
effect profile)
• Can try in refractory cases: clobazam,
levetiracetam, topiramate, zonisamide

10. PROGNOSIS OF CAE
• Generally good. Seizures remit in up to 95% of cases
• Increased risk of other epilepsies
• Children can have learning/cognitive difficulties
even after seizure remission occurs

11. JUVENILE MYOCLONIC EPILEPSY (JME)
• GENERALIZED EPILEPSY
• 3 seizure types: ***myoclonic jerks (cardinal
symptom), absences, convulsions
• Myoclonic jerks are more typical in the morning
• Onset between 8-24 years (peak onset 12-18)
• Patients are very sensitive to sleep deprivation and
alcohol consumption

12. EEG IN JME-IRREGULARLY
GENERALIZED POLY-SPIKE SLOW WAVE

13. TREATMENT OF JME
• First line:
• Valprioc acid
• Lamotrigine (may make myoclonus worse)
Other agents: Levetiracetam is useful of convulsions
and myoclonus, Topirmate and zonisamide are useful
for convulsions, clobazam is good for everything

14. PROGNOSIS OF JME
• Usually people are on medication lifelong
• Occasionally seizures do remit, but most people
elect to stay on medications
• If seizures are poorly controlled, it can cause
cognitive impairments, but if well controlled, many
people can live normal lives
• Advise against sleep deprivation/alcohol

15. A WORD ABOUT JUVENILE ABSENCE
EPILEPSY (JAE)
• GENERLIZED EPILEPSY
• Typical absences, like CAE
• Onset after age 10
• Higher risk for evolving into JME like picture

16. EEG IN JAE

17. BENIGN EPILEPSY WITH CENTRO-TEMPORAL SPIKES
(BECTS), FORMERLY KNOWN AS BENIGN ROLANIDIC
EPILEPSY
• FOCAL EPILEPSY
• Onset between 2-13 years (peak onset 5-10 years)
• Seizures occur around sleep (falling asleep or
waking up)
• Typical seizure: face pulling/drooling, inability to
speak, sometimes ipsilateral hand involvement,
sometimes secondary generalization
• At onset of seizure, children typical have preserved
awareness

18. EEG IN BECTS: BILATERAL CENTRO-TEMPORAL
SPIKES THAT INCREASE WITH SLEEP

19. PROGNOSIS
• These seizures may not need treatment (some
patients only have 1-2 seizures in their life separated
by many years)
• Treat when seizures are recurrent (greater than 2),
prolonged, or if thy generalize to convulsions
• Benign is a misnomer: even though the seizures
remit, there can be long term learning/cognitive
issues

20. PANAYIOTOPOULOS SYNDROME
• FOCAL EPILEPSY
• Childhood onset (between 1-14, median onset 5 years)
• Autonomic seizures, 2/3 of them out of sleep
• Common clinical features: emesis with eye deviation. At
onset children can have preserved awareness
• Can secondarily generalize
• Can have other autonomic features: pallor/flushing,
cyanosis, mydriasis or miosis, hypersalivation,
incontinence, penile erection
• Events can be long: 10-30 minutes
• Interictal eeg can be normal

21. EEG IN PANAYIOTOPOULOS
SYNDROME

22. PROGNOSIS
• Generally good
• Treatement is not typically needed, especially if
events are rare
• Treat if there are convulsions or cardiorespiratory
instability

23. AUTOSOMAL DOMINANT NOCTURNAL
FRONTAL LOBE EPILEPSY (ADNFLE)
• FOCAL EPILEPSY
• Onset between 1-64 (median onset 14)
• Frontal lobe seizures out of sleep
• Nocturnal arousals out of non-REM sleep with bizarre
behavior, wanderings, dystonia
• Some well described genetic associations with
incomplete penetrance
• Video EEG is very useful to help distinguish from REM
sleep behaviors disorder, sleep waling, etc

24. PROGNOSIS OF ADNFLE
• Very treatable
• Early recognition improves outcomes

25. DOOSE’S SYNDROME (MYOCLONIC-
ASTATIC EPILEPSY OR MAE)
• GENERALIZED EPILEPSY
• Clinical hallmark is myoclonic-astatic seizures (or
myoclonic atonic seizures)
• Can also have absences, convulsions
• Onset between ages 2-4
• Normal development up to the age of onset, then
during the active phase of seizures-regression can
occur
• Differential includes Dravet’s syndrome or Lennox-
Gastaut syndrome

26. TREATMENT/PROGNOSIS
• Lamotrigine, valproic acid, the ketogenic diet
• Prognosis can actually be good, when the seizures
go into remission-many children have an
improvement in development

27. DRAVET’S SYNDROME (SEVERE MYOCLONIC
EPILEPSY OF INFANCY OR SMEI)
• MIXED EPILEPSY (both focal and generalized
features)
• Seizures begin in the first year of life
• There severe encephalopathy with developmental
regression or plateau with onset of seizures
• Seizures can be myoclonic, clonic, focal, convulsive
• Well described genetic associations

28. TREATMENT/PROGNOSIS
• Typically refractory seizures/medication resistant.
Due to mixed epilepsy type: broad spectrum agents
(valprioc acid, lamotrigine, topiramate) indicated.
Avoid carbemazepine/oxcarbazepine
• Stiripentol, has orphan drug approval to treat
Dravet’s in the EU
• Severe long term encephalopathies
• Cannabidiol oil??? Research is ongoing

29. INFANTILE SPASMS/WEST SYNDROME
(IS)
• Has its own classification
• Epileptic encephalopathy
• Clinical triad of clinical spasms (myoclonic tonic),
hypsarrhythmia on EEG, developmental regression
• Can be idiopathic or caused by
structural/metabolic defect: TS, perinatal stroke,
Sturge Weber, cortical migration abnormalities
• Typical age of onset 3-18 months (peak incidence
6-9 months)

30. EEG IN IS

31. ELECTRODECREMENT

32. TREATMENT/PROGNOSIS
• ACTH, Vigabitrin (first line in TS), topirmate (if there
are focal seizures as well), clobazam
• Most children have long term neurodevelopmental
problems, which are worse the longer it takes to
initiate treatment
• Some evolve to a Lennox-Gastaut picture as they
get older

33. OHTAHARA SYNDROME
• Catastrophic form of an early epileptic
encephalopathy
• Onset between birth and 3 months
• Various structural and genetic causes
• Very poor psychomotor outcome

34. LENNOX-GASTAUT SYNDROME (LGS)
• MIXED EPILEPSY
• Often severe epileptic encephalopathy
• Multiple seizure types: tonic, myoclonic, atonic,
atypical absence, focal seizures that can generalize
• EEG hallmark: “slow” generalized spike-wave 2
hertz-usually at onset of disease, EEG can evolve
over time, can also have other focality
• Many children with LGS have evolved to that from
IS

35. LGS EEG

36. TREATMENT/PROGNOSIS
• Can be medication resistant
• Broad spectrum agents preferred: lamotrigine,
valproic acid, topiramate, clobazam, runfinamide
• Long term neuro-developmental
problems/encephalopathy