1. Epilepsy Syndromes

2. Epilepsy is a disease of the brain
defined by any of the following
conditions
• At least two unprovoked (or reflex) seizures
occurring >24 h apart
• One unprovoked (or reflex) seizure and a
probability of further seizures similar to the general
recurrence risk (at least 60%) after two unprovoked
seizures, occurring over the next 10 years
• Diagnosis of an epilepsy syndrome

4. Syndromes in Neonates
A. Self-Limited Epilepsy Syndromes
1. Self-Limited (Familial) Neonatal Epilepsy
2. Benign Neonatal Seizures
B. Developmental and Epileptic Encephalopathies (DEE)
1. Early-Infantile Developmental and Epileptic
Encephalopathy (Ohtahara syndrome and Early
Myoclonic Encephalopathy (EME))

5. Self-Limited (Familial) Neonatal
Epilepsy
Benign Familial Neonatal Epilepsy
Benign Neonatal Seizures
Age of onset days 2 and 3 fifth-day fits
Seizures • Focal clonic or focal tonic seizures
• may alternate sides
• may evolve to bilateral tonic-clonic seizure
unifocal clonic and rarely focal tonic
EEG minor non-specific abnormalities such as mild
discontinuity or slowing
EEG background may be normal or
nonspecific, an ictal pattern called theta
pointu alternant
Development
at onset
normal
Neurological
exam
Imaging To exclude structural lesion
Other studies –
genetics, etc
AD mutations of the KCNQ2 gene including hypoglycemia, sepsis, and
meningitis, are excluded.
treatment Short term of BZD, phenytoin
Long Term
outcome
Seizures typically remit by 6 months of age, the
majority ceasing by 6 weeks of age
events tend to dissipate after 2 days.

6. Other self limited in neonate or at
infantile
1. Self-Limited (Familial) Neonatal-Infantile Epilepsy
(1 day to 23 months)
• Focal seizures are mandatory for diagnosis
• usually remit within 1 year

8. Early-Infantile Developmental and
Epileptic Encephalopathy
Early-onset Epileptic Encephalopathies
(Ohtahara syndrome)
early myoclonic encephalopathy
Age of onset neonatal period (Birth to 3 months)
Seizures Tonic and/or myoclonic seizures myoclonic and/or tonic seizures
EEG persistent burst-suppression pattern
during both the awake and sleep states
burst-suppression pattern during the sleep
Development at
onset
developmental impairment
Neurological
exam
Imaging MRI is not required but for exclude structural causes
Other studies –
genetics, etc
structural malformations > metabolic
disorders
metabolic disorders>structural
malformations
treatment • etiology-specific treatment is available (eg, hemispherectomy for
hemimegalencephaly or pyridoxine for pyridoxine dependency)
• West syndrome with infantile spasms or Lennox-Gastaut syndrome
Long Term
outcome

10. Syndromes in Infancy
A. Self-Limited Epilepsy Syndromes
1. Benign Myoclonic Epilepsy in Infancy
2. Genetic Epilepsy with Febrile Seizures Plus (GEFS+)
spectrum: including Febrile Seizures Plus
B. Developmental and Epileptic Encephalopathies (DEE)
1. Epilepsy of Infancy with Migrating Focal Seizures (EIMFS)
2. Infantile Spasms Syndrome
3. Dravet Syndrome
4. Etiology-Specific Syndromes

11. Benign Myoclonic Epilepsy in Infancy
Age of onset 4 months and 3 years of age
Seizures myoclonic seizures that triggered by sensory stimuli,
whether tactile, auditory, or photic
may be very subtle, especially at onset, with brief
head nods or eye rolling
EEG 3 Hz to 4 Hz generalized spike- or polyspike
Development at onset
Neurological exam
Imaging
Other studies – genetics,
etc
treatment
Long Term outcome Generalized tonic-clonic seizures may be seen later in
childhood

13. Genetic Epilepsy with Febrile Seizures Plus (GEFS+)
spectrum: including Febrile Seizures Plus
Age of onset infancy or childhood (6 month-6 years)
Seizures simple febrile seizures to mixed febrile and afebrile
seizures that may be prolonged, focal, or occur in
clusters
generalized and focal seizures
EEG
Development at onset
Neurological exam
Imaging
Other studies – genetics,
etc
SCN1A gene
treatment sodium channel blockers such as may be deleterious
otherwise pharmacoresponsive epilepsy that typically
remits by adolescenc
Long Term outcome

15. Epilepsy of Infancy With Migrating Focal Seizures
Age of onset before 12 months
Seizures focal seizures with multiple topographic origins that
migrate within and between cerebral hemispheres
have a “ping-pong” or migratory quality
EEG Ictal recording shows a migrating pattern
Development at onset Developmental plateauing or regression with frequent
seizures
Neurological exam
Imaging diagnosis to exclude a causal structural etiology
Other studies – genetics,
etc
SCN1A or KCNT1
treatment AEDs, the ketogenic diet, and vagal nerve stimulation
Long Term outcome Neurodevelopmental delay (rare and poor prognosis
syndrome)

16. West Syndrome
Epilepsy of Infantile Spasms Syndrome
Age of onset 1-24 months
Seizures Clusters of flexor, extensor or mixed epileptic spasms
EEG hypsarrhythmia, multifocal or focal epileptiform
discharges
Development at onset Psychomotor retardation
Neurological exam
Imaging MRI is not required for diagnosis but is strongly
recommended to exclude structural causes
Other studies – genetics,
etc
Some genetic disorders have a strong association with
infantile spasms (eg, tuberous sclerosis complex and
Down syndrome)
treatment adrenocorticotropic hormone (ACTH), prednisolone,
or the g-aminobutyric (GABA)-transaminase inhibitor
vigabatrin
Long Term outcome A high risk exists that patients will develop cognitive
impairment, autism spectrum disorder, and chronic
epilepsy, including Lennox-Gastaut syndrome

19. Severe Myoclonic Epilepsy of Infancy (Dravet Syndrome)
Age of onset 1-20 months
Seizures hemiclonic seizures febrile seizures and go on to have
recurrent febrile and afebrile myoclonic, focal, and
generalized (atypical absence and convulsive) seizures
The hemiclonic seizures aspect alternates sides
EEG
Development at onset cognitive decline and motor deficits
Neurological exam
Imaging MRI is not required for diagnosis but is strongly
recommended to exclude structural causes
Other studies – genetics,
etc
sodium channel gene SCN1A
treatment valproate, clobazamas well as the ketogenic diet
Long Term outcome Drug resistant epilepsy Intellectual disability
status epilepticus as well as sudden unexpected death
in epilepsy (SUDEP)

20. Etiology-Specific Syndromes
1. KCNQ2-DEE
2. Early-onset Vitamin-dependent
3. CDKL5-DEE
4. PCDH19 Clustering Epilepsy
5. Glucose Transporter 1 Deficiency Syndrome
6. Sturge-Weber syndrome
7. Gelastic Seizures with Hypothalamic Hamartoma
(gelastic or dacrystic)
• Focal clonic or focal tonic
• Epileptic encephalopathy
• Pharmacoresistant

21. Epilepsy Syndromes with Onset
in Childhood
• (1) Self-Limited Focal Epilepsies of Childhood
• (2) Idiopathic Generalized Epilepsy Syndromes
• (2) Genetic Generalized Epilepsies
• (3) Developmental and/or Epileptic
Encephalopathies of Childhood.

22. • Self-Limited Focal Epilepsies of Childhood
1) Self-Limited Epilepsy with Centrotemporal Spikes
(SeLECTS) (rolandic epilepsy)
2) Self-Limited Epilepsy with Autonomic Seizures
(SeLEAS) (Panayiotopoulos syndrome)
3) Childhood Occipital Visual Epilepsy (COVE) (Gastaut
type)
4) Photosensitive Occipital Lobe Epilepsy (POLE)

23. Self-Limited Epilepsy with Centrotemporal Spikes (SeLECTS) (rolandic epilepsy)
Age of onset 3 to 11 years
Seizures • Focal seizures wakefulness or sleep and/or
nocturnal: paresthesia on one side of the tongue or
mouth, followed by dysarthria or gagging-type
noises, jerking of the ipsilateral face, and excessive
drooling.
• focal to bilateral tonic clonic seizures in sleep only
EEG High amplitude, centrotemporal biphasic spike-wave
discharge
Development at onset
Neurological exam
Imaging
Other studies – genetics,
etc
treatment pharmacoresponsive epilepsy (carbamazepine,
oxcarbazepine, levetiracetam, lamotrigine, and
valproate)
Remission by mid to late adolescence
Long Term outcome

25. Self-Limited Epilepsy with Autonomic Seizures (SeLEAS) (Panayiotopoulos
syndrome)
Age of onset between 3 and 6 years of age
Seizures Focal autonomic seizures, with or without impaired
awareness during sleep.
Autonomic symptoms often involve prominent
retching and vomiting, but may also include malaise,
pallor, flushing, abdominal pain, pupillary or
cardiorespiratory changes
EEG High amplitude, focal or multifocal discharges which
increase in drowsiness and sleep
with the occipital regions involved in about half of
recordings
Development at onset
Neurological exam
Imaging
Other studies – genetics,
etc
treatment Remission by early to mid adolescence
No developmental regression
Long Term outcome

27. Childhood Occipital Visual Epilepsy (COVE) (Gastaut type)
Age of onset 6 and 11 years
Seizures Focal sensory visual seizures with elementary visual
phenomena (multicolored circles), with or without
impaired awareness, and with or without motor signs
(deviation of the eyes or turning of the head) with
postictal migrain.
EEG Occipital spikes or spikes-and-wave discharges (awake
or sleep).
fixation off phenomenon: precipitated by eye closure
and attenuated by eye opening
Development at onset
Neurological exam
Imaging
Other studies – genetics,
etc
treatment
Long Term outcome

28. Photosensitive Occipital Lobe Epilepsy (POLE)
Age of onset 4 and 17
Seizures Focal sensory visual seizures, which may evolve to
bilateral tonic-clonic seizures.
Seizures are triggered by photic stimuli, such as
flickering sunlight
EEG normal. Interictal occipital spike or spike
Development at onset
Neurological exam
Imaging
Other studies – genetics,
etc
treatment
Long Term outcome variable

29. • Idiopathic Generalized Epilepsy Syndromes
1. Childhood Absence Epilepsy

30. Childhood Absence Epilepsy
Age of onset 4-10 years girl more
Seizures • typical absence seizure, meaning abrupt impairment of
consciousness, often with associated behavioral arrest,
staring, eye fluttering, or automatisms
• At least daily to multiple per day but may be under-
recognized by family
• Typical duration 3-20 seconds
EEG generalized 3 Hz to 4 Hz spike-and-wave
IPS triggers generalized spike-wave in 15%
hyperventilation
Development at onset Typically normal, but may have
learning difficulties or ADHD
Neurological exam NAD
Imaging NAD
Other studies – genetics, etc
treatment • ethosuximide, valproic acid,
• epilepsy is associated with seizure freedom and long-term
remission in up to 75% of patients
Long Term outcome

32. • The Genetic Generalized Epilepsy Syndromes of
Childhood
1. Epilepsy with Myoclonic Absence (Tassinari
Syndrome)
2. Epilepsy with Eyelid Myoclonia (Jeavons
Syndrome)

33. Epilepsy with Myoclonic Absence (Tassinari Syndrome)
Age of onset 1 to 12 years, and males predominate
Seizures prominent rhythmic myoclonic or clonic activity
during absence seizures
EEG generalized 3 Hz spike-and-wave
Development at onset
Neurological exam intellectual disability may preset
Imaging May needed
Other studies – genetics polygenic
treatment Remission in approximately 40% of patients..
Prognosis is variable
Long Term outcome

34. Epilepsy with Eyelid Myoclonia (Jeavons Syndrome)
Age of onset 2 to 14 years, female predominate2:1
Seizures triad of frequent eyelid myoclonia, with or without
absences, induced by eye closure and photic
stimulation. Eyelid myoclonia is often most prominent
on awakening
Additional generalized tonic-clonic
EEG EEG is similar to the generalized 3 to 6 Hz polyspike
and wave complex
Development at onset
Neurological exam intellectual disability may preset
Imaging May needed
Other studies – genetics,
etc
Polygenic or monogenic
treatment • Remission in not rule
• .Prognosis is variable
Long Term outcome

36. • Developmental and/or Epileptic Encephalopathies of
Childhood.
1. Myoclonic-Atonic Epilepsy(Doose syndrome).
2. Lennox-Gastaut syndrome
3. Developmental and Epileptic Encephalopathy with
Spike-Wave Activation in Sleep.
4. Febrile Infection-Related Epilepsy Syndrome (FIRES)
5. Hemiconvulsion Hemiplegia-Epilepsy (HHE) syndrome

37. Myoclonic-Atonic Epilepsy (Doose syndrome)
Age of onset 2-6 years. Boys are more commonly affected
Seizures Myoclonic followed by atonic seizures
other seizure types occur, including absence, tonic-
clonic, and tonic as well as myoclonic or
nonconvulsive status epilepticus
EEG Generalized 3-6 Hz spikewave or polyspike-andslow-
wave discharges
Development at onset
Neurological exam intellectual disability may preset
Imaging May needed
Other studies – genetics,
etc
Polygenic or monogenic as SCN1A
treatment • Remission in not rule
• Prognosis is variable
• AED, ketogenic diet
• Vagus nerve stimulation corpus callosotomy
unclear role
Long Term outcome

39. Lennox-Gastaut syndrome
Age of onset < 18 years
Seizures Tonic seizures In addition
Atypical absences • Atonic • Myoclonic • Focal
impaired awareness • Generalized tonic clonic •
Nonconvulsive status epilepticus • Epileptic spasms
EEG slow spike-wave <2.5 Hz
Generalized paroxysmal fast activity in sleep
Development at onset Usually mentally retarded
Neurological exam
Imaging
Other studies – genetics,
etc
Usually structural lesions, (eg, focal cortical dysplasia,
subcortical band heterotopia, perisylvian
polymicrogyria) as well as phakomatoses (eg, tuberous
sclerosis complex, hypomelanosis of Ito), meningitis or
encephalitis, hypoxic-ischemic encephalopathy, and
genetic epilepsies
treatment Drug resistant epilepsy
Long Term outcome Poor

42. • Acquired Epileptic Aphasia (Landau-Kleffner
Syndrome)

43. Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep.
(D/EE-SWAS)
Age of onset 2 and 12 years
Seizures electroclinical syndrome
mixed generalized seizures,
cognitive deterioration
No seizure specific according to etiology.
EEG Continuous, slow (<2 HZ spike-wave in >50% of non-REM
sleep)
Development at onset Cognitive, behavioral or motor regression or plateauing
temporally related to SWAS on EEG
Neurological exam
Imaging
Other studies – genetics, etc malformations such as bilateral perisylvian
polymicrogyria are associated with this syndrome
treatment valproate, levetiracetam, benzodiazepines, corticosteroids, or
other antiseizure medicines. Epilepsy surgery may be
indicated if the patient has a resectable lesion.
Long Term outcome Remission of SWAS pattern on EEG by mid adolescence,
although EEG often remains abnormal

45. Febrile Infection-Related Epilepsy Syndrome (FIRES)
Age of onset a rare syndrome, which is likely under-recognized,
Seizures 2 week of febrile illness ----focal multifocal evolve to bilateral
tonic clonic seizure
Within tow week progress to super refractory seizure
EEG Slowing of the background
with multifocal discharges
Development at onset
Neurological exam
Acute encephalopathy with onset of frequent seizures
Imaging Approximately one third may show bilateral T2 hyperintense
affect temboral lobe, basal ganglia and thalmi
Other studies – genetics, etc
treatment
Long Term outcome Poor mortality is approximately 10%

46. Hemiconvulsion Hemiplegia-Epilepsy (HHE) syndrome
Age of onset less than 4 years of age
Seizures • Acute stage: Episode of febrile,---- hemiclonic status
epilepticus-----permanent hemiparesis
• Chronic stage: After a variable time<3 years unilateral
focal motor or focal to bilateral tonic clonic seizures
appear
EEG • Acute: Slowing of background activity over the affected
• chronic : hemisphere Focal or multifocal epileptiform
discharges over the affected hemisphere in the chronic
phase
Development at onset
Neurological exam
Imaging • Acute: hyperintensity subcortical region of the affected
hemisphere, often with severe edema.
• chronic stage: there is atrophy of the affected hemisphere
Other studies – genetics, etc
treatment Drug-resistant epilepsy Permanent focal motor deficit
Long Term outcome

47. ILAE Classification and Definition of Epilepsy
Syndromes with Onset at a Variable Age
I. generalized epilepsy syndromes, with presumed
polygenic etiologies
II. focal epilepsy syndromes with genetic, structural
or genetic-structural etiologies
III. generalized and focal epilepsy syndrome with
polygenic etiology
IV. a specific group of developmental and/or
epileptic encephalopathies
V. etiology-specific epilepsy

48. generalized epilepsy syndromes, with presumed
polygenic etiologies
1. juvenile absence epilepsy
2. juvenile myoclonic epilepsy
3. epilepsy with generalized tonic-clonic seizures
alone

49. generalized epilepsy syndromes, with presumed
polygenic etiologies
juvenile absence epilepsy juvenile myoclonic
epilepsy
epilepsy with generalized
tonic-clonic seizures alone
Adolescent or early adulthood
At 15 12-18 5-40
absence myoclonic seizure generalized tonic-clonic
seizures 2hours after
awakening, trigger by
sleep deprivation
3-5.5 Hz generalized spike-wave
Normal development
Pharmacoresponsive but complete remission may not occur
ethosuximide, valproate
or lamotrigine
Valproate, Levetiracetam or lamotrigine

51. • focal epilepsy syndromes with genetic, structural or
genetic-structural etiologies
1. sleep related hypermotor epilepsy
2. familial focal epilepsy with variable foci
3. epilepsy with auditory features

52. • focal epilepsy syndromes with genetic, structural or
genetic-structural etiologies
sleep related hypermotor
epilepsy
familial focal epilepsy with
variable foci
epilepsy with auditory
features
At adolescent but may in childhood or adulthood
Night focal seizure
(hyperkinetic-tonic or
dystonic)
Day time focal seizure
(motor, autonomic or
cognitive)
Focal auditory
If unilateral have
lateralization value
EEG non specific EEG non specific show intermittent
midtemporal slowing
MRI may Normal or focal cortical dysplasia
Normal development
KCNT1 mutations of the
mechanistic target of
rapamycin (mTOR)
pathway inhibitor gene
LGI AD mutation in half of
cases
Pharmacoresponsive but may need polytheraby also may be refractory

54. • generalized and focal epilepsy syndrome with
polygenic etiology
1. reading-induced seizures

55. Reflex Epilepsies
Now Epilepsy with reading-induced seizures
Age of onset late teens,
Male more than female 2:1
Seizures reflex myoclonic seizures affecting orofacial
muscles triggered by reading
if reading continues these may worsen and a
generalized tonicclonic seizure may occur
EEG NAD
Development at onset
Neurological exam
Imaging MRI is required for diagnosis to exclude a
structural cause.
Other studies – genetics, etc
treatment good response to specific ASM
With good remission
Long Term outcome

56. • a specific group of developmental and/or epileptic
encephalopathies

57. Progressive Myoclonus Epilepsies
Age of onset Up to 50 Yrs
Seizures myoclonus (cortical and subcortical)
Generalized tonic-clonic seizures can
also occur.
EEG generalized spike- or polyspike-and-
wave
Development at onset Progressive cognitive decline,
progressive cerebellar signs
Neurological exam
Imaging
Other studies – genetics, etc
treatment Poor tend to pharmacoresistant
Long Term outcome

58. Unverricht-Lundborg disease • AR
• point mutations in the cystatin B gene
• onset is between 6 and 16 years a
Lafora body disease • AR
• NHLRC1 encodes for laforin
• vision loss may present
• intracellular neuronal inclusions that are positive
using histologic periodic acid-Schiff staining.
MERRF • mitochondrial disorder
• Second decade
• Vision and hearing loss may affected
• Muscle biopsy reveals so-called ragged red fibers
on Gomori trichrome staining
Neuronal ceroid lipofuscinoses
lysosomal storage diseases
• AR
• range from infantile to adolescent and adult onset
• vision loss, pyramidal and extrapyramidal
dysfunction, and seizures
sialdosis • red spots (cherry-red macules)

59. Etiology-specific epilepsy
• Mesial Temporal Lobe Epilepsy With Hippocampal
Sclerosis
• Rasmussen encephalitis

60. Mesial Temporal Lobe Epilepsy With Hippocampal Sclerosis
Age of onset early childhood but is frequently in adolescence or early
adulthood
Seizures Focal aware or impaired awareness seizures with initial
semiology referable to medial temporal lobe
EEG 5 Hz to 9 Hz theta to alpha frequency range, maximally present at
the anterior temporal region
Development at onset
Neurological exam
Imaging Hippocampal sclerosis (unilateral or
bilateral) on MRI
Other studies – genetics
Treatment Long Term
outcome
unlikely to respond to antiseizure
medicines

61. • autonomic or abdominal auras behavioral
arrest Automatisms accompany these events,
such as lip smacking, swallowing, chewing, or picking
• dystonic posturing of the upper extremity
contralateral to the temporal lobe focus
• “ictal speech,” meaning the patient has the ability to
speak during the seizure, lateralizes the seizure focus
to the nondominant (usually right)
• Postictal nose wiping is done by the hand ipsilateral to
the focus

62. Rasmussen encephalitis
Age of onset children, adolescents and young adults
Seizures Focal/hemispheric seizures which often increase in
frequency over weeks to month
epilepsia partialis continua
EEG Hemispheric slowing and interictal discharges
Development at onset
Neurological exam immune-mediated epilepsy
progressive neurological impairment (hemiparesis,
homonymous hemianopia, cognitive impairment)
Imaging Progressive hemiatrophy
Other studies – genetics, etc
treatment Drug resistant epilepsy Progressive neurological
Deficits
hemispherectomy are the only known
Long Term outcome