Epilepsy Syndromes in Children - Childhood Onset

Question 1

epilepsy syndromes of childhood

Answer 1

range from relatively common and more benign disorders (including focal-onset seizure type as in benign rolandic epilepsy and the early- and late-onset forms of benign occipital epilepsy and generalized-onset forms such as childhood absence epilepsy) to epileptic encephalopathies raging from Lennox-Gastaut syndrome to epileptic encephalopathy with continuous spike and wave in slow sleep (CSWS)

Question 2

genetic epilepsy with febrile seizures plus

Answer 2

familial electroclinical syndrome that can have onset in infancy or childhood

Question 3

genetic epilepsy with febrile seizures plus - genetics

Answer 3

associated in at least some cases with mutations of the SCN1A gene encoding for a voltage-gated sodium channel subunit

Question 4

genetic epilepsy with febrile seizures plus - seizure types

Answer 4

both generalized and focal seizures may occur

Question 5

genetic epilepsy with febrile seizures plus - diagnosis

Answer 5

at least 2 family members should be affected to establish the diagnosis clinically

Question 6

genetic epilepsy with febrile seizures plus - phenotypes

Answer 6

range from simple febrile seizures to mixed febrile and afebrile seizures that may be prolonged, focal, or occur in clusteres

Question 7

genetic epilepsy with febrile seizures plus - clinical distinction between Dravet and Doose syndromes

Answer 7

may be challenging

hippocampal sclerosis may occur (sign of prolonged febrile seizure)

Question 8

genetic epilepsy with febrile seizures plus - onset

Answer 8

usually between 6mo and 6 years of age

boys and girls affected equally

Question 9

genetic epilepsy with febrile seizures plus - development

Answer 9

develop normally

Question 10

genetic epilepsy with febrile seizures plus - inheritance

Answer 10

autosomal dominant with incomplete penetrance

Question 11

genetic epilepsy with febrile seizures plus - gene mutations

Answer 11

identified in a minor of affected families and are usually of missense type
SCN1A, SCN1B, and GABA-A receptor geen GABRG2
truncation mutations more likely associated with more severe phenotypes

Question 12

genetic epilepsy with febrile seizures plus - treatment

Answer 12

recognition helps guide treatment since sodium channel blockers may be deleterious in this otherwise pharmacoresponsive epilepsy
no phenytoin, carbamazepine, oxcarbazepine, and lamotrigine

Question 13

genetic epilepsy with febrile seizures plus - prognosis

Answer 13

remits by adolescence

Question 14

panayiotopoulos syndrome

Answer 14

early onset childhood occipital epilepsy

Question 15

panayiotopoulos syndrome - onset

Answer 15

usually between 3 and 6 years of age, although a wide range from 1 to as late as 14yrs has been described

Question 16

panayiotopoulos syndrome - features

Answer 16

autonomic component - bowel or bladder incontinence, pallor, pupillary changes, and syncope
can be prolonged (at least 5mins and sometimes even hrs) and feature nausea, vomiting, and eye deviation with preserved consciousness

Question 17

panayiotopoulos syndrome - classic scenario

Answer 17

seizure with recurrent vomiting with onset during sleep

Question 18

panayiotopoulos syndrome - seizures

Answer 18

may secondarily generalize into convulsions

ddx of focal seizure

Question 19

panayiotopoulos syndrome - EEG

Answer 19

spikes that can be shifting and multifocal

Question 20

panayiotopoulos syndrome - etiology

Answer 20

unknown

no positive family history

Question 21

panayiotopoulos syndrome - treatment

Answer 21

episodes infrequent

intermittent benzodiazepine use

Question 22

panayiotopoulos syndrome - prognosis

Answer 22

long-term remission occurs within 2 years after onset, although there is a crossover with benign epilepsy with centrotemporal spikes (BECTS)

Question 23

myoclonic-atonic epilepsy (Doose syndrome)

Answer 23

characteristic initial myoclonic component followed by a fall

Question 24

myoclonic-atonic epilepsy (Doose syndrome) - symptoms

Answer 24

myoclonus manifests as large-amplitude symmetric jerks of the arms, legs, neck, and shoulders that may result in a head drop and upper limb flexion or abduction
followed by loss of muscle tone and a fall

Question 25

myoclonic-atonic epilepsy (Doose syndrome) - seizure types

Answer 25

myoclonic-atonic events absence, tonic-clonic, and tonic myoclonic or non convulsive status epilepticus

Question 26

myoclonic-atonic epilepsy (Doose syndrome) - onset

Answer 26

between 18 months and 5 years of age | peak at 3 years

Question 27

myoclonic-atonic epilepsy (Doose syndrome) - EEG

Answer 27

recurrent paroxysms of generalized spike or polyspike and wave, typically without clinical correlate and satisfactory background parasagittal theta frequency slowing photoparoxysmal response

Question 28

myoclonic-atonic epilepsy (Doose syndrome) - myoclonic events on EEG

Answer 28

bursts of 2 Hz to 4 Hz epileptiform activity

Question 29

myoclonic-atonic epilepsy (Doose syndrome) - genetics

Answer 29

family history positive for epilepsy | phenotype associated with the GEFS+ syndrome

Question 30

myoclonic-atonic epilepsy (Doose syndrome) - mutations

Answer 30

SCN1A, SCN1B, GABRG2, SLC6A1

Question 31

myoclonic-atonic epilepsy (Doose syndrome) - treatment

Answer 31

standard AED: valproic acid, ethosuximide, or benzodiazepines - topiramate, lamotrigine, rufinamide, and levetiracetam may also show benefit ketogenic diet vagus nerve stimulator or corpus callosotomy unclear

Question 32

myoclonic-atonic epilepsy (Doose syndrome) - prognosis

Answer 32

long-term remission in majority of patients | remainder develop intractable epilepsy with intellectual impairment

Question 33

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy)

Answer 33

25% of all childhood epilepsies | nonlesional focal epilepsy with an excellent outcome

Question 34

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - onset

Answer 34

4-11 years peak 7-8 male predominance

Question 35

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - timing

Answer 35

shortly after sleep onset or just before awakening | 1/4 have seizures during active state

Question 36

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - seizure symptomology

Answer 36

begin with paresthesia on one side of the tongue or mouth, followed by dysarthria or gagging-type noises, jerking of the ipsilateral face, and excessive drooling secondary generalization may occur

Question 37

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - duration

Answer 37

brief, ranging from seconds to minutes | status epilepticus as well as Todd paresis may occur

Question 38

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - EEG background

Answer 38

normal punctuated by high-voltage sharp or blunt spike discharges involving either centrotemporal region (ie. rolandic spikes) potentiation during the drowsy and non-REM sleep states

Question 39

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - EEG classic finding

Answer 39

tangential electrical dipole with anterior positivity and centrotemporal negativity

Question 40

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - development

Answer 40

cognition normal range | neuropsych deficits in language, visuospatial skills, verbal and nonverbal memory, and executive function skills

Question 41

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - etiology

Answer 41

suspected genetic | complex inheritance

Question 42

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - mutations

Answer 42

glutamate receptor GRIN2A | RBFOX1, RBFOX3, DEPDC5

Question 43

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - who needs treatment?

Answer 43

reserved for patients with very frequent events or daytime events interfering with functioning or if secondary generalization occurs

Question 44

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - treatment

Answer 44

generally pharmacoresponsive | carbamazepine, oxcarbazepine, levetiracetam, lamotrigine, and valproate

Question 45

benign epilepsy with centrotemporal spikes (benign rolandic epilepsy) - prognosis

Answer 45

long-term remission almost universally attained by the age of 14-16 years

Question 46

late-onset childhood occipital epilepsy (Gastaut type) - onset

Answer 46

later in childhood | peak between 8 and 11 years

Question 47

late-onset childhood occipital epilepsy (Gastaut type) - symptomology

Answer 47

visual hallucinations, eye deviation, eye flutters, transient vision loss, and ocular pain postictal headache common and prominent secondary generalization with loss of consciousness and convulsive activity

Question 48

late-onset childhood occipital epilepsy (Gastaut type) - EEG

Answer 48

bilateral occipital spike-and-wave discharges precipitated by eye closure and attenuated by eye opening 'fixation off' phenomenon (visual fixation will abort the spike-wave discharges)

Question 49

late-onset childhood occipital epilepsy (Gastaut type) - treatment

Answer 49

meds typically used for focal-onset seizures are partly effective in producing seizure control

Question 50

late-onset childhood occipital epilepsy (Gastaut type) - prognosis

Answer 50

half the patients experience long-term remission

Question 51

epilepsy with myoclonic absences (Tassinari syndrome)

Answer 51

very prominent rhythmic myoclonic or clonic activity during absence seizures

Question 52

epilepsy with myoclonic absences (Tassinari syndrome) - onset

Answer 52

peaks at 7 years of age range from 1-12 years male predominates

Question 53

epilepsy with myoclonic absences (Tassinari syndrome) - associations

Answer 53

additional GTCs and cognitive impairment associated

Question 54

epilepsy with myoclonic absences (Tassinari syndrome) - EEG

Answer 54

similar to generalized 3 Hz spike-and-wave discharges of typical absence seizures with myoclonia occurring coincident with the spikes

Question 55

epilepsy with myoclonic absences (Tassinari syndrome) - genetics

Answer 55

family history positive for epilepsy

Question 56

epilepsy with myoclonic absences (Tassinari syndrome) - development

Answer 56

cognitive impairment

Question 57

epilepsy with myoclonic absences (Tassinari syndrome) - treatment

Answer 57

tend to be pharmacoresistant | medications used are similar for those of childhood absence epilepsy and generalized epilepsy with eyelid myoclonus

Question 58

Lennox-gastaut syndrome

Answer 58

constellation of multiple generalized seizure types, with tonic being predominant, slow (less than 3 Hz) spike-and-wave discharges, plus paroxysmal fast activity during sleep, and cognitive impairment with regression

Question 59

Lennox-gastaut syndrome - EEG background

Answer 59

slow (less than 3 Hz) spike-and-wave discharges, plus paroxysmal fast activity during sleep

Question 60

Lennox-gastaut syndrome - onset

Answer 60

by age of 8 peak incidence 3-5 years male predominance may be preceded by West syndrome

Question 61

Lennox-gastaut syndrome - etiology

Answer 61

many have no discernible etiology others assoc with structural lesions (focal cortical dysplasia, subcortical band heterotopia, perisylvian polymicrogyria) as well as phakomatoses (tuberous sclerosis complex, hypomelanosis of Ito), meningitis or encephalitis, HIE, and genetic epilepsies

Question 62

epileptic encephalopathy with continuous spike and wave in slow sleep

Answer 62

mixed generalized seizures, cognitive deterioration, and EEG pattern of electrical status epilepticus in slow sleep (ESES)

Question 63

epileptic encephalopathy with continuous spike and wave in slow sleep - onset

Answer 63

between 3 and 5 years of age | ESES pattern may not be present and diagnosis not established until years later

Question 64

epileptic encephalopathy with continuous spike and wave in slow sleep - EEG

Answer 64

ESES: spike-wave activity occupying 85% of slow-wave sleep, usually manifested by slow (1.5 Hz to 2.5 Hz) spike-wave discharges having a diffuse distribution

Question 65

epileptic encephalopathy with continuous spike and wave in slow sleep - etiologies

Answer 65

range from cryptogenic to structural brain abnormalities (cortical dysplasia or polymicrogyria) to long-standing thalamic lesions

Question 66

epileptic encephalopathy with continuous spike and wave in slow sleep - treatment

Answer 66

attempted to improve EEG valproate, levetiracetam, benzodiazepines, corticosteroid, or other anti seizure medications epilepsy surgery may be indicated if patient has a resectable lesion

Question 67

epileptic encephalopathy with continuous spike and wave in slow sleep - prognosis

Answer 67

seizures typically remit by adolescence, but neurocognitive sequelae persist

Question 68

acquired epileptic aphasia (landau-kleffner syndrome)

Answer 68

acquired auditory agnosia as a presenting symptom - loss of understanding of previously familiar words or sounds

Question 69

acquired epileptic aphasia (landau-kleffner syndrome) - onset

Answer 69

2:1 male predominance peak 3-7 years range 2-14 years

Question 70

acquired epileptic aphasia (landau-kleffner syndrome) - characterized by

Answer 70

loss of previously acquired language skills can be rapid or prolonged associated attention and behavior problems and irritability are common

Question 71

acquired epileptic aphasia (landau-kleffner syndrome) - seizure types

Answer 71

both generalized and focal (infrequently)

Question 72

acquired epileptic aphasia (landau-kleffner syndrome) - EEG

Answer 72

may be represented by ESES, although predilection for the perisylvian and posterior temporal regions is typical

Question 73

acquired epileptic aphasia (landau-kleffner syndrome) - etiology

Answer 73

unknown

Question 74

acquired epileptic aphasia (landau-kleffner syndrome) - mutations

Answer 74

NMDA-R subunit gene GRIN2A

Question 75

acquired epileptic aphasia (landau-kleffner syndrome) - treatment

Answer 75

valproate or benzodiazepines and possibly steroids or IVIG | early therapeutic invervention may be related to improved outcomes

Question 76

childhood absence epilepsy (pyknolepsy) - onset

Answer 76

typical age of onset 4-10 years peak 5-7 years girls > boys

Question 77

childhood absence epilepsy (pyknolepsy) - earlier onset?

Answer 77

before age 4 | concern regarding underlying glucose transporter type 1 deficiency

Question 78

childhood absence epilepsy (pyknolepsy) - later onset?

Answer 78

after age 11 | unusual

Question 79

childhood absence epilepsy (pyknolepsy) - characterized by

Answer 79

typical absence seizures with generalized 3 Hz to 4 Hz spike-and-wave discharges with an otherwise normal background on EEG

Question 80

childhood absence epilepsy (pyknolepsy) - typical absence seizures

Answer 80

abrupt impairment of consciousness, often with associated behavioral arrest, staring, eye fluttering, or automatisms

Question 81

childhood absence epilepsy (pyknolepsy) - duration

Answer 81

usually about 10 seconds, although longer episodes may occur

Question 82

childhood absence epilepsy (pyknolepsy) - exacerbating factors

Answer 82

hyperventilation

Question 83

childhood absence epilepsy (pyknolepsy) - EEG

Answer 83

generalized bilateral synchronous and symmetric regular 3 Hz spike-and-wave paroxysms of abrupt onset and offset tend to be frontal dominant

Question 84

childhood absence epilepsy (pyknolepsy) - genetics

Answer 84

voltage-gated calcium channel - CACNA1A | GABA-A receptor - GABRG2 and GABRG3

Question 85

childhood absence epilepsy (pyknolepsy) - treatment

Answer 85

ethosuximide is first line | valproic acid is secondary and if absence also has GTCS

Question 86

childhood absence epilepsy (pyknolepsy) - prognosis

Answer 86

often good, with seizure freedom reported in 57-74% of patients comorbidities: inattention, learning disabilities involving verbal and visuospatial skills, depression, anxiety, low self-esteem, and social isolation

Question 87

generalized epilepsy with eyelid myoclonia (Jeavons syndrome)

Answer 87

brief absences (usually less than 10 seconds) with prominent eye blinking and upward eye deviation, often triggered by eye closure

Question 88

generalized epilepsy with eyelid myoclonia (Jeavons syndrome) - symptoms

Answer 88

blending of features of absence and myoclonic epilepsy

Question 89

generalized epilepsy with eyelid myoclonia (Jeavons syndrome) - EEG

Answer 89

ictal EEG reveals diffuse 3 to 6 Hz polyspike-and-wave complexes that may be precipitated by eye closure occasional preceding occipital bursts generalized photo paroxysmal response - can be ameliorated by using blue-colored or polarized lenses

Question 90

generalized epilepsy with eyelid myoclonia (Jeavons syndrome) - treatment

Answer 90

usually ones used for primary generalized seizures (valproic acid, ethosuximide, and benzodiazepines)

Question 91

generalized epilepsy with eyelid myoclonia (Jeavons syndrome) - prognosis

Answer 91

variable | eyelid myoclonia can be frequent, GTCS may occur, and long-term remission is not the rule