IGE (part 2) Epilepsy with GTCs Only IGE with Absences of early childhood perioral myoclonia Autosomal dominant cortical tremor, myoclonus and epilepsy IGE with phantom absences jeavon syndrome IGE treatment

1. Doaa Abdellatif M Al Elwany
Neurology Resident
March 2018

2. Epilepsy with GTCs Only
15% of IGE
70 % start with abscences and/or myoclonic jerks many years before
GTCs
+FH genetic
93% lifelong disease
ONSET any age peak 16/17
80% 1st GTC 2nd decade of life
EGTCSA (epilepsy GTCs upon awakening)
1-2 hrs after awakening
Seizure PF
1. Sleep deprivation
2. Fatigue
3. Excessive alcohol consumption

3. Other probable syndromes of
IGE
IGE with Absences of early
childhood
Perioral myoclonia with absences
IGE with phantom absences
Jeavon syndrome

4. IGE with abscences of early childhood
Absence + 2/3 1st presentation GTCs + 40% Myoclonic Jerks
May overlap with other syndrome
So it not specific syndrome
Absence status epilepticus is common
Strong FH

6. Other probable syndromes of
IGE
IGE with Absences of early
childhood
Perioral myoclonia with absences
IGE with phantom absences
Jeavon syndrome

7. Perioral myoclonia with absences
GTCs before or at the same time of typical absence
Brief duration of perioral absence / myoclonia (depressor
anguli /jaw jerking/orbicularis oris)
Frequent absence status epilepticus
50%FH
Resistance to ttt
Persistance in adult life

10. Other probable syndromes of
IGE
IGE with Abscences of early
childhood
Perioral myoclonia with abscences
IGE with phantom absences
Jeavon syndrome

11. IGE With phantom absences
Phantom Absence : typical absence with mildest form of impairment of
conscious level
GTCs
Absence status epilepticus
Recent ILAE report phantom absence a result of Brain maturation
How to detect it
Video EEG
Breath counting during hyperventilation
Interruption/delay/errors of counting

12. Atiology genetically determined
EEG 50% Normal
Life long
Without medications

13. Other probable syndromes of
IGE
IGE with Absences of early
childhood
Perioral myoclonia with absences
IGE with phantom absences
Jeavon syndrome

14. It is one of the most distinctive reflex
syndromes of idiopathic generalized epilepsy
characterized by the triad of eyelid myoclonia
with and without absences, eye-closure-
induced seizures, EEG paroxysms, or both, and
photosensitivity.

16. Include benign familial adult myoclonic epilepsy, familial adult
myoclonic epilepsy, familial essential myoclonus and epilepsy, familial
cortical tremor and epilepsy, and autosomal dominant cortical
myoclonus and epilepsy
ADCME is probably the most common of all autosomal IGE syndromes
Common in Japanese and Italian families
Single relatively benign non-progressive autosomal dominant
IGE syndrome with high penetrance and genetic heterogeneity

17. Clinical picture
1.Cortical tremors + myoclonus
2. 80%) also have infrequent GTCSs
3.Mentally/neurologically NL
4. Rare CPS
5.Reported concurrent migraine and blindness
Prognosis
non-progressive disorder
Differential diagnosis
Ess tremors (regular rhythmic)

19. AEDs that have anti-myoclonic activity, such as
valproate, phenobarbital, clonazepam and levetiracetam.
Piracetam in high doses is often beneficial for the cortical
tremor.
Lamotrigine, gabapentin, tiagabine and pregabalin,
because of pro-myoclonic action, are contraindicated

20. Nearly half of patients with IGEs are treated
with inappropriateAEDs

21. The IGEs are usually easy to treat, i.e., they respond to medications
in about 90% of patients.
Diagnosis may be difficult, and at times impossible, to make a precise
diagnosis of
epilepsy type and it is imp Because treatment options are not exactly the
same for IGE Also, surgery is never an option for this type of epilepsy
IGEs have a better prognosis, and a more favourable response to,
appropriate AEDs than symptomatic and focal epilepsies , refractory is
rare

23. Many AEDs licensed for the treatment of focal
epilepsies are contraindicated in IGEs (Table 13.7).
1. tiagabine and vigabatrin are major pro-absence
agents
2. carbamazepine, oxcarbazepine and phenytoin
exacerbate absences and myoclonic jerks
3.gabapentin and pregabalin are ineffective in all types
of idiopathic epileptic seizures and may exacerbate
some of them, particularly myoclonic jerks.

25. Valproate first-choice AED in IGEs for men
Female teratogenicity-polycystic ovary-weight gain
Levetiracetam the most
probable substitute for valproate in at least JME and
women
Acetazolamide has been used for treating primarily
GTCSs in cases resistant to conventional treatment

27. Refractory is rare Prevalence of intractable IGE may be in the order of
10–30% and this is mostly due to delayed or inappropriate treatment.
Compliance
1.Revise the diagnosis
2. ppt factors
3. Circadian distribution
1) seizures – which are the more pre dominant and more
disturbing; and (2) AEDs – which are definitely or possibly
effective combination

28. ALL IGE have normal intelligence, normal neurological examina-
tion, and normal MRIs
The term
“idiopathic” is misleading
(genetic)
How long does treatment last?
With the exception of juvenile myoclonic epilepsy (JME), these are
often
outgrown (roughly 50% of the time) in young adulthood, so weaning
may be tried.
JME is the only type that is not outgrown, so attempts to stop drugs in
JME usually fail.

29. Thank you