1. Syndromic Diagnosis and Interictal Correlation of Epilepsies
Dr.Ashraf.V.V
Consultant Neurologist
MIMS Hospital, Calicut

2. Electro-clinical Syndrome
Group of clinical entities that are reliably identified by a cluster of electro-clinical and developmental characteristics
Largely genetic in origin
Tend to have a strong relationship to developmental aspects of brain
ILAE Commission 2009

3. Concept of Epileptic Syndromes
Factors taken into consideration include
Seizure type(s)
Age of Onset
Precipitating factors
Severity, Chronicity
Diurnal/circadian cycling
Etiology: genetics, structural pathology
Associated neurological problems
Interictal EEG

4. Advantages of a syndromic diagnosis
Provide information about
Age of onset
Etiology
Seizure type
Precipitating factors
Chronicity
Prognosis
Choice of treatment

5. Epileptic Encephalopathy
Electro-clinical syndrome associated with a very high probability of encephalopathic features that present or worsen after the onset of epilepsy
Pharmaco-resistant

6. Neonatal Epileptic syndromes
Early Myoclonic encephalopathy
Ohtahara syndrome
Benign familial neonatal seizures

7. Early Myoclonic Encephalopathy (Aicardi et al 1978)
Onset: first weeks of life
Erratic, focal, rarely generalized myoclonic and clonic seizures
High incidence of consanguinity
Sometimes IEMs: (NKHG)
EEG: Burst- Suppression Pattern, persists for months; awake & sleep
Intractable to therapy - seizure pattern may change over time
Severe disability; early death

9. 3 months later

10. Early Infantile Epileptic Encephalopathy (Ohtahara 1976)
Onset in the first weeks of life
Characteristic repetitive ‘tonic spasms’ - focal or generalized
Commonly associated with structural brain abnormalities
EEG burst suppression pattern, > in sleep, evolves to hypsarrythmia
Intractable to AEDs
Neurological outcome is very poor, early death
Evolves to WS, LGS

11. Fp1-F3
F3 –C3
C3 – P3
P3 – O1
Fp2 F4
F4 – C4
C4 – P4
P4 – O2
Fp1 –F7
F7 – T3
T3 – T5
T5 – O1
Fp2 F8
F8 – T4
T4 – T6
T6 – O2
EKG

12. Benign familial neonatal Seizures
Second or third day of life
Repetitive isolated seizures
Autosomal dominant
10-15% develop epilepsy later
No psychomotor deficit
EEG: Non specific, focal abnormalities

13. Electro-clinical syndromes of Infancy
West syndrome
Febrile seizures plus
Dravet syndrome
Migrating partial seizures of infancy
Myoclonic epilepsy in infancy
Myoclonic encephalopathy in nonprogressive disorders
Benign familial infantile seizures

14. WEST SYNDROME : INFANTILE (EPILEPTIC) SPASMS
Myoclonic < Spasms < Tonic
Flexor , Extensor, Flexor-extensor
Subtle spasm
Asymmetrical spasm in symptomatic
Onset 3-12 m (4 months); till 2 yrs
Occipital lesions---- early onset
Frontal lesions -----later onset

15. West Syndrome Symptomatic , Cryptogenic, Idiopathic
Symptomatic- cortical malformations, HIE, tuberous sclerosis,infections, genetic and chromosomal abnormalities etc
Focal lesions ++
Autistic regression / visual agnosia
Evolution LGS / partial seizures

18. Inter-ictal Hypsarrthymmia (50-60%): Chaotic background with high amplitude delta,asynchronous multifocal spikes, polyspikes and electrodecremental activity
Awake

19. Hypsarrhythmia with focal slowing (Left temporo-occipital FCD )

20. Spasms & hypsarrhythmia resolve by 2y Evolve to focal seizures (R occipital lesion)

21. Ictal- Generalised sharpwaves/slow waves with attenuation

22. WHEN FEBRILE SEIZURES ARE NOT FEBRILE SEIZURES
GEFS + (Gen. Epilepsy febrile seizures plus)
Common under-recognised disorder
Autosomal dominant with high penetrance
Typical FS, FS + lasting longer, Afebrile GTCs most common
Occasionally absence, myoclonic, atonic
Focal seizures of frontal or temporal lobe in origin
Dravet’s syndrome overlap
Remits in adolescence 80%
Sodium channelopathy

23. Dravet’s syndrome (SMEI)
1st year febrile / afebrile unilateral / GTCs; status epilepticus
Later myoclonus, atypical absence, complex focal
Resistant to AEDs
Cognitive regression, ataxia 2nd year
FH %
Severe idiopathic generalised epilepsy of infancy (SIGEI) with GTCs: No myoclonus

24. EEGs normal ; later generalized epileptic photosensitivity
Consider this syndrome when febrile / illness provoked seizures start in infancy and EEG is persistently NORMAL

25. EM-AS
GEFS +
SCN1A mutations
DRAVETs SIGEI

26. Malignant migrating partial epilepsy of Infancy
Epileptic encephalopathy
Mean age 3 months
Continuous multifocal seizures arising independently from multiple regions
Psychomotor deterioration
Seizure control is exceptional

27. Migrating seizures of infantile
Malignant migrating partial epilepsy of infancy
Migrating seizures of infantile

28. Migrating seizures of infantile

29. Childhood epilepsy syndromes
Benign epilepsy with centrotemporal spikes
Early onset Benign childhood occipital epilepsy (Panayiotopoulos Syndrome)
Late onset childhood occipital epilepsy (Gastaut type)
Epileptic encephalopathy with CSWS
Landau-Kleffner syndrome
Lennox-Gastaut syndrome
Autosomal dominant nocturnal frontal lobe epilepsy
Childhood Absence epilepsy
Epilepsy with myoclonic absence

30. BECTS [Benign Rolandic Epilepsy]
Most common partial epilepsy in childhood
Onset 2-14 years; ¾ 7-10 yrs
Seizure frequency-
10-20% have a single seizure
20% have frequent seizures
< 2% have seizures into adulthood
“No other” neurological issues
Let me quickly run through some of the common apparently benign epileptic syndromes in childhood adolescence. The first and foremost

31. Ictal Semiology Focal facial sensorimotor 70% nocturnal
60% retained awareness
Lasts 1-2 min
Sec. Generalized %
Oro-pharyngo-laryngeal
Hyper salivation
Speech arrest
Clonic upperlimb

33. Panayiotopoulos Syndrome
Tonic eye
deviation
70% nocturnal
Peak- 4 to 5 years
Lasts longer; 44% > 30 min
EEG focus-commonly occipital,
variability ++
N, R, Vomiting
Pallor +
other autonomic
Ictal syncope

35. Idiopathic childhood occipital epilepsy of Gastaut
Mean age : 8 years
Elementary visual hallucinations
Ictal blindness
Deviation of eyes
Severe headache
EEG shows occipital paroxysms, often demonstrating fixation-off sensitivity

37. Epileptic Encephalopathy of Late Childhood
A spectrum of diseases
Landau- Kleffner syndrome
CSWS Syndrome
Gradual cognitive/behavior deterioration
Acquired language impairment
Seizures
Dramatic activation of epileptiform abnormalities in slow wave sleep
LKS
CSWS

38. Landau Kleffner Syndrome
Our son was normal in every way until the age of 2 years. At first he seemed to be losing his hearing but not for environmental sounds. We thought that he was going deaf, but the hearing test was normal… When he was 3 years old he didn’t say anything for over a month. He improved for a few months and then he had a minor seizure
From the internet description by a mother

39. LKS Vs Epilepsy with CSWS
Spikes Temporal
Seizures 75%
Symptomatic rare
Verbal auditory agnosia
Behavioural deficit common
50% reach near normal life
Epilepsy with CSWS
CSWS %
Frontal spikes
Seizures -100%
One third symptomatic
Expressive aphasia
Nearly all
One-quarter reach normal

41. Fp1-F3
F3 –C3
C3 – P3
P3 – O1
Fp2 F4
F4 – C4
C4 – P4
P4 – O2
Fp1 –F7
F7 – T3
T3 – T5
T5 – O1
Fp2 F8
F8 – T4
T4 – T6
T6 – O2
EKG

43. Lennox Gastaut Syndrome
Polymorphic seizures
Tonic Seizures - Commonest
Atypical absences – 2/3rd of patients
Atonic seizures (Drop attacks)
Myoclonic jerks
Cognitive and behavioural abnormalities
EEG Slow spike and wave,
Paroxysms of fast activity

44. Lennox-Gastaut Syndrome
Peak age 3-5 years
Symptomatic form most common
One third idiopathic
No genetic predisposition
Half of the West syndrome and others progress to LGS
Poor prognosis

47. EVOLUTION OF SYNDROMES
OTAHARA’S (neonate)
WEST (infant)
LENNOX GASTAUT (toddler)

48. EE with suppression – burst (OTOHARA’s )
D 15 infant refractory tonic / partial seizures; BH N
MRI N / Metabolic N
EE with suppression – burst (OTOHARA’s )

49. Epileptic spasms a few months later
HYPSARRYTHMIA MODIFIED BY SLEEP

50. 2.5 y; MR, Tonic seizures in sleep; Drop attacks with injuries; Episodes of atypical absence status & regression
SLOW SPIKE WAVE-LGS

51. Epilepsy with Myoclonic-Astatic Seizures( Doose Syndrome)
Normal development prior to the onset
Onset peaks at 2-4 years
Two-thirds of children have febrile and afebrile GTCS to begin with
Myoclonic astatic seizures (post myoclonic atonia)
Normal background EEG with 2-3 Hz GSWD

52. Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)
Hypermotor seizures
Consciousness is usually preserved
Postictal state is entirely normal
Common in hypnagogic state or shortly before awakening
Interictal EEG is usually normal
Video-polysomnographic EEG – frontal ictal rhythms in 30% of cases

53. Childhood Absence Epilepsy
Brief staring spells (“petit mal”) with impairment of awareness
3-20 seconds
Sudden onset and sudden resolution
Often provoked by hyperventilation
Onset typically between 4 and 14 years of age
Often resolve by 18 years of age
 Normal development and intelligence
 EEG: Generalized 3 Hz spike-wave discharges

54. OIRDA

55. 3 Hz GSWD, Higher voltage in the anterior region, No marked variation in intradischarge frequency, no fragmentation in the ictal discharge

56. Epilepsy with Myoclonic Absences

57. Syndromes in Adolescence-Adults
Juvenile Myoclonic epilepsy
Juvenile absence epilepsy
Epilepsy with GTCS alone
Autosomal dominant partial epilepsy with auditory features (ADPEAF)
Progressive myoclonic epilepsies

58. Juvenile Myoclonic Epilepsy
Most common among IGEs: 4-6%
Genetically determined
40-50 %: family history of epilepsy
Myoclonic seizures (MSs): 100%
Generalized tonic-clonic seizures: 90%
Absence seizures: 35%
EEG-3-6 Hz spike/polyspike-slow waves with intradischarge fragmentation and unstable frequency
One third of patients have photoparoxysmal responses

60. Juvenile Absence Epilepsy
Usual age of onset years
Typical Absences- impairement of consciousness
GTCS – In nearly 80% of patients
Myoclonic jerks -random
Absences>GTCS>Myoclonic jerks
Ictal EEG shows 3-4 Hz GSWD

61. Progressive Myoclonic Epilepsies
Symptomatic generalized epilepsies
• Myoclonic seizures
• Progressive neurological abnormalities
MERRF: early childhood or as late as 65 yr of age
Unverricht-Lundborg disease: 6-15 yr (mean 11 yr)
Lafora’s disease: yr
Neuronal ceroid lipofuscinosis
Sialidosis

64. Reflex Epilepsies Reading Epilepsy
Idiopathic photosensitive occipital epilepsy
Startle Epilepsy
Eyelid Myoclonia with absences (Jeavons Syndrome)

65. Reading Epilepsy
Stimulus: reading, talking (fast or argumentative), writing.
Manifests as myoclonic jerks of the jaw muscles
Other types of seizures is exceptional
Symptomatic form can have focal seizures manifesting with alexia and dysphasia
Interictal EEG is usually normal

66. Idiopathic photosensitive occipital epilepsy
Visual hallucinations
Blurring of vision and blindness
Seizures induced by photic stimuli
Commonly induced by video games
Photic stimulation elicits PPR spikes

68. Jeavons Syndrome Age group : 6-8years F>M
Eyelid myoclonia with and without absences
Eye closure induced seizures or EEG paroxysms
Photosensitivity

70. Diagnosis of epileptic syndromes- problems
Exact diagnosis may not be possible on first contact
Needs periodic follow up
Evolution of syndrome
eg: west syndrome LGS
Overlapping features

71. THANK YOU