This document discusses various epileptic syndromes categorized by age of onset - infantile, childhood, adolescent. Key syndromes described in detail include West syndrome, Dravet syndrome, GEFS+, Panayiotopoulos syndrome, Benign epilepsy with centrotemporal spikes, Electrical status epilepticus in slow sleep, Myoclonic-atonic epilepsy, Lennox-Gastaut syndrome. For each syndrome, the document outlines clinical features, investigations such as common EEG findings and genetic causes, treatment approaches, and typical prognosis.

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