1. Epileptic syndromes
Dr Muhammed Arshad

2. • Infantile-onset epilepsies.
• Childhood-onset epilepsies.
• Adolescent-onset epilepsies.
• Important Genetic and Metabolic Causes.

3. Infantile-onset epilepsies
• West Syndrome
• Dravet Syndrome
• Genetic Epilepsy With Febrile Seizures Plus

4. West syndrome
• The most common epileptic encephalopathy with
an incidence of 3 to 4.5 per 10,000 live births.
• Clinical features:
TRIAD :
-epileptic spasms
-hypsarrhythmia
-arrest or regression of psychomotor development

5. Epileptic spasms
• flexion, extension, or mixed flexion-extension
movements that last 1 to 2 seconds in the
proximal and truncal muscles and occur in
clusters that last several minutes often shortly
after waking.
• clusters are seen several times per day.
• Focal seizures may precede or follow spasms
and should suggest an underlying focal
pathology.

6. Hypsarrhythmia
• high-amplitude asynchronous slow waves,
multifocal spikes, and polyspikes.
• most prominent during quiet sleep, often
attenuated during wakefulness

8. Treatment
• ACTH
• Vegabatrine

9. Dravet Syndrome
• previously called severe myoclonic epilepsy of
infancy.
• relatively rare intractable childhood epilepsy
syndrome with an estimated prevalence of 1
in 40,900 live births.

10. Clinical features
• Epilepsy onset is before age 18 months.
• prolonged hemiconvulsive seizures (with or
without secondary generalization)
• triggered by fever or hyperthermia.
• Classically, seizures switch sides, starting on
the right with some events and the left with
others

11. • Seizures may be falsely generalized.
• In the early preschool years, other seizure
types emerge, including myoclonic, atypical
absence, and focal seizures.
• Obtundation status, in which the child appears
poorly responsive for several hours.

12. • erratic myoclonus predominantly affecting the
fingers and orobuccal muscles, and discrete
interspersed massive myoclonic jerks that may
interfere with sleep.

13. • Development is normal at epilepsy onset but
slows around the time of onset of myoclonus
and nonconvulsive seizures.

14. Investigations
• SCN1A mutations are found in 80% of
patients.
• EEG findings in Dravet syndrome are not
specific.

15. Treatment
• extremely pharmacoresistant.
• Sodium channel blocking agents, including
carbamazepine, oxcarbazepine, lamotrigine,
and phenytoin, should be avoided as they
exacerbate seizures.

16. • valproic acid or clobazam, although
topiramate, levetiracetam, and possibly
zonisamide may also have efficacy.

18. Genetic Epilepsy With Febrile Seizures
Plus
• GEFS+ is a common familial electroclinical
syndrome in which two or more family
members have symptoms consistent with this
diagnosis.
• Age at onset is between 6 months and 6 years,
and boys and girls are equally affected.

19. Clinical features
• The mild phenotype are children with febrile
seizures alone.
• may be recurrent, prolonged, focal, or
clustered.
• Other children have febrile seizures plus, in
which febrile seizures either continue beyond
the age of 6 years or afebrile seizures coexist
with febrile seizures.

20. • At the severe end of the spectrum are
individuals with either myoclonic-atonic
epilepsy or Dravet syndrome.
• Some individuals may also present with
temporal lobe epilepsy with or without
hippocampal sclerosis.

21. • With the exception of rare cases on the severe
end of the phenotypic spectrum, children with
GEFS+ are typically neurologically and
developmentally normal. Antecedent birth
and developmental histories are
unremarkable.

22. Investigations
• GEFS+ is usually inherited in an autosomal
dominant manner with incomplete
penetrance.
• SCN1A, SCN1B, SCN2A, GABRG2, and GABRD
• EEG not spesefic.

23. Treatment
• Prophylactic AEDs are not indicated for simple
febrile seizures.
• If they are prolonged or clustered, a home
dose of rescue benzodiazepine therapy could
be administered.

24. Prognosis
• Generally, most seizures in GEFS+ are
pharmacoresponsive and self-limited, in most
cases resolving before puberty. Development
remains normal.

25. Childhood-onset epilepsies
• Panayiotopoulos Syndrome (Early-Onset Benign
Occipital Epilepsy)
• Benign Epilepsy With Centrotemporal Spikes
(Benign Rolandic Epilepsy)
• Electrical Status Epilepticus in Slow Sleep
• Myoclonic-Atonic Epilepsy (Doose Syndrome)
• Lennox-Gastaut Syndrome

26. Panayiotopoulos Syndrome (Early-
Onset Benign Occipital Epilepsy)
• Panayiotopoulos syndrome accounts for 1% to
2% of pediatric focal epilepsy cases with a
peak age at onset of 5 years.
• The condition is slightly more common in girls
and affects neurologically normal children.

27. Clinical features
• Seizures are characterized by prominent
autonomic features (eg, nausea, retching, and
vomiting).
• usually occur at night
• Tonic eye deviation is common
• visual hallucinations are rare

28. • Seizures often become dyscognitive and may
evolve to hemiconvulsions or generalized
convulsions.
• Duration can be prolonged; up to one-third
develop focal status epilepticus.
• seizure frequency is low with 33% of patients
having only a single seizure.

29. Investigations
• EEG show:
high-amplitude, frequent, focal, or multifocal
spikes that typically increase in sleep.
Location is often, but not always, in the
occipital region

30. Treatment
• prophylactic AED treatment may not be
needed if seizures are infrequent.

31. Prognosis
• Remission of active epilepsy typically occurs
within 1 or 2 years from onset, and children
can then discontinue prophylactic
medications. Cognitive and social outcome is
excellent.

32. Benign Epilepsy With Centrotemporal
Spikes (Benign Rolandic Epilepsy)
• Benign epilepsy with centrotemporal spikes
accounts for 6% to 10% of all childhood
epilepsies
• peak age at onset of 7 to 8 years.
• resolving by age 16.
• Boys are more commonly affected.

33. Clinical features
• Focal seizures with clonic or tonic activity of
one side of the lower face or tongue.
• paresthesia of the tongue, lips, gum, and
cheek.
• drooling; and dysarthria are classic features of
the condition.
• Hemiconvulsions are more common in young
children.

34. • evolution to bilateral convulsive activity is
frequent in sleep.
• Seizures typically occur shortly after falling
asleep or before awakening.
• 15% of patients have seizures in both sleep
and wakefulness and
• 20% to 30% in the waking state alone.
• Seizures are typically brief and often occur in
clusters .

35. • Frequent seizures are seen in only 6%, while
13% to 21% will have only a single event.
• Postictal Todd paresis is seen in 7% to 16% and
may suggest focal onset.

36. Investigations
• EEG shows:
• high-amplitude, diphasic, unilateral or
bilateral, centrotemporal spikes or sharp
waves, which have a characteristic horizontal
dipole.

38. Treatment
• Prophylactic medication may not be required
for children with infrequent nocturnal focal
seizures.
• What is the best choice if you want to give
treatment ?

39. Prognosis
• remission occurs in essentially all children:
50% by age 6 years, 92% by age 12 years, and
99.8% by age 18 years.
• long-term psychosocial outcome is excellent
with no increase in psychiatric or personality
problems and excellent occupational status.
• Rarely, this syndrome evolves atypically to
electrical status epilepticus in slow sleep
(ESES)

40. Electrical Status Epilepticus in Slow
Sleep
• ESES comprises two similar but distinct
syndromes:
-Continuous spike and wave in slow sleep
(CSWS).
-Landau-Kleffner syndrome

41. Clinical features
• In both CSWS and Landau-Kleffner syndrome,
marked activation of epileptiform discharges
occurs during non-REM sleep to the point that
they become nearly continuous.
• Children experience developmental regression,
which is more global in CSWS and predominantly
affects receptive language in Landau-Kleffner
syndrome.

42. Investigations
• GRIN2Amutations have been identified to play
a role in a significant minority of epilepsy-
aphasia spectrum disorders.
• EEG

44. Treatment
• Medications that can exacerbate such activity,
including oxcarbazepine and carbamazepine,
should be discontinued.
• Selected AEDs, including valproate, ethosuximide,
levetiracetam, lamotrigine.
• High-dose benzodiazepines or steroids are often
used as first-line agents.
• Surgery can also be considered, particularly in
children with CSWS with neuroimaging
abnormalities.

45. Prognosis
• Seizures ultimately resolve or markedly
decrease in frequency by puberty.
• The electrographic pattern of ESES also
resolves in puberty.
• the neuropsychological prognosis is more
worrisome with less than half of children
achieving normal intelligence and language
function.

46. Myoclonic-Atonic Epilepsy (Doose
Syndrome)
• Doose syndrome, is a rare syndrome (1% to
2% of childhood epilepsy).
• Onset between 2 and 5 years of age and has a
male preponderance.
• Most children are developmentally normal
prior to the onset of seizures.
• Family history is frequently positive for either
epilepsy (15% to 37%) or febrile seizures (50%)

47. Clinical features
• Febrile or afebrile generalized tonic-clonic
seizures, followed by other generalized
seizures after weeks to months.
• The myoclonic-atonic seizure is characteristic,
seen in nearly all cases, consists of a brief
generalized myoclonic jerk affecting proximal
muscles, and is followed by an atonic
component that can be very subtle (head nod)
or more prominent (abrupt fall).

48. • Myoclonic, atonic, atypical absences, and,
rarely, tonic seizures may also occur.
• One or more periods of nonconvulsive status
epilepticus can be seen in 40% of patients and
may be induced by inappropriate AEDs such as
carbamazepine.

49. Investigations
• EEG:
-Centroparietal theta rhythms.
-Amplitude increases, and a 2-Hz to 3-Hz
generalized spike, polyspike, and wave
discharge
- Photosensitivity is common.

51. Treatment
• valproic acid, ethosuximide, lamotrigine,
topiramate, levetiracetam, zonisamide, and, in
refractory cases, ACTH.
• seizures are frequently pharmacoresistant,
and the ketogenic diet is one of the most
efficacious therapies.

52. Prognosis
• Seizures remit in 54% to 89% of cases.
• half of children have normal development
long term or only mild cognitive delay.

53. Lennox-Gastaut Syndrome
• Lennox-Gastaut syndrome is a relatively rare
epilepsy syndrome with an incidence of 1.9 to
2.1 per 100,000 children.
• Accounts for approximately 6% to 7% of
children with intractable epilepsy.
• Onset is typically in the preschool years, and
males are preferentially affected.

54. • Two-thirds of cases occur in children with
preexistent brain abnormalities, one-third of
whom have a history of West syndrome.

55. Clinical features
• Triad of :
-Multiple generalized seizure types, including
tonic, atonic, myoclonic, and atypical absence.
-Interictal EEG pattern of diffuse slow spike-
wave complexes.
-Cognitive dysfunction.

56. • Nocturnal tonic events are most characteristic
of Lennox-Gastaut syndrome.
• Daytime tonic and atonic seizures often lead
to problematic falls.
• Nonconvulsive status epilepticus is also
common but often difficult to detect in a
timely manner

57. Investigations
• EEG:
-Interictally high-amplitude 1.5-Hz to 2.5-Hz
generalized and multifocal polyspike and
spike-wave discharges.
-Low-voltage frontally predominant greater
than 10-Hz generalized paroxysmal fast
activity is seen in slow-wave sleep

59. Treatment
• Seizures in Lennox-Gastaut syndrome are
pharmacoresistant.
• Valproic acid and its derivatives are
commonly used.
• Carbamazepine may lessen tonic seizures but
worsen atypical absences.
• Ethosuximide may be helpful for refractory
atypical absences.

60. • Given the poor response to AEDs, the
ketogenic diet should be considered early in
the course of Lennox-Gastaut syndrome.
• Corpus callosotomy is a possible treatment for
intractable drop seizures.
• Vagus nerve stimulation reduce seizures by
approximately 50% in nearly half of children

61. Adolescent-onset epilepsies.
Juvenile Absence Epilepsy
Juvenile Myoclonic Epilepsy

62. Progressive Myoclonic Epilepsy
• Progressive myoclonic epilepsies are most
commonly due to neurometabolic or
neurodegenerative disorders.
• Present with cognitive regression, progressive
medically intractable myoclonus, and slowing
of the EEG background

64. Genetically important syndromes

66. • Thanks