Epilepsy syndromes
Name/Age
Class
Neonatal
Benign Familial
Neonatal Epilepsy
(BFNE)
Day 2-15
Focal familial
(like BNC or
fifth day fits)
Early Myoclonic
Encephalopathy
(EME)
first month, up to 3
months
Otahara Syndrome
(IEE with
suppression bursts)
10 days to 3
months
Mechanism
AD KCNQ 2-3
Potassium
Channel,
Nicotinic Ach
20q13, 8q24
Epileptic
Glycine
encephalopathy encephalopathy,
other metabolic
syndromes, (csf
and serum
neurotransmitter,
amino/organic
acid) pyridoxine
Epileptic
Structural lesions,
encephalopathy Aicardi syndrome,
Porencephaly
Semiology
EEG
Treatment
Prognosis
Clusters of focal
clonic seizures,
apnea, sec
generalization,
last 3-4 months
Erratic
progressive
myoclonus,
Apnea, tonic
spasms, partial
motor sz
Normal
interictal, theta
pointu
alternant,
suppress to SW
Suppressionburst EEG
None, or
phenobarb
Spontaneous
recovery, 10-15%
have later epilepsy
Many AEDs
DPH, PB,
Benzos,
lignocaine
(pyridox/biotin
creatine PRN)
Poor response to
AEDs,
developmental
arrest,
microcephaly,
atrophy, 50% die
by 1 year (severe)
Tonic spasms
Suppressionburst EEG
ACTH, KD
Phenobarb,
Benzos, TPM,
lignocaine,
ZNM
Developmental
arrest, often go on
to West
Syndrome, can die
(surgery can help)
ACTH, KD
Infantile
West syndrome
4-7 months
Epileptic
Various mostly
encephalopathy structural, or
genetic or
metabolic causes
Clusters of
infantile spasms,
increasing in
drowsiness,
myoclonic-tonic
Hypsarrythmia
with
electrodecreme
ntal seizures
ACTH,
Vigabatrin
(VGB in TS)
Pyridoxine,
ketogenic diet
Developmental
arrest, 85% have
poor outcome
cognitively, 630% die by age 3
Myoclonic epilepsy Idiopathic
of Infancy (MEI)
generalized
4-36 months
epilepsy
Family history of
seizures or febrile
seizures in 30%,
male predominate
Epilepsy of infancy
with migrating
focal seizures
(MMPEI)
malignant
<6 months
Benign Familial
Infantile Epilepsy
<12 months
Infection,
hypoxia,
structural lesions
Dravet Syndrome
(SMEI –severe
myoclonic epilepsy
of infancy) <12 mo
Myoclonic
encephalopathy in
nonprogressive
disorders
Symptomatic
focal epilepsy
Genetic
idiopathic focal
epilepsy
SCN2A
Sodium channel
AD 2q23
(6p, 19q, 2q)
assoc with
paroxysmal
chorea, ATPase
Genetic
SCN1A
epileptic
Sodium channel
encephalopathy 2q24
sporadic
Epileptic
encepalopathy
Myoclonic, or
reflex visual
seizures, febrile
seizures, GTC in
adolescence
Clusters of focal
polymorphic
seizures, with
frequent
secondary
generalization
Clusters of brief
partial seizures,
often clonic,
head and eye
deviation
Fast SW or
poly SW with
myoclonus,
normal
background
IEA migrates
to nearby areas
with rhythmic
theta becoming
more
continuous
Seizures in
wakefulness,
IEA focal
spikes or fast
activity, otw
normal
VPA
Benzodiazepin
es
Respond well to
AEDs, mild
cognitive
impairment..
CBZ, VPA,
PB
Favorable
response, normal
development
Long Febrile
seizures, GTC,
then myoclonic
seizures yrs 1-4,
then atypical
absence or focal
hemiclonic sz
Normal, then
gen SW,
photosensitive,
and heat
sensititve
Stiripental,
VPA
Clobazam,
TPM, ZNM
Ketogenic diet
(avoid CBZ,
DPH, Na
channel drugs)
Ataxia,
psychomotor
retardation,
refractory
seizures, poor
outcome but sz
stabilize
Prolonged
myoclonic status
Continuous
slow SW,
asynchronous
myoclonus
Progressive
cognitive decline
28% mortality
Neuropsychologic
impairment, poor
prognosis
Childhood
Generalized
Idiopathic
epilepsy with
generalized
febrile seizures plus
(GEFS+)
3 mo-6 years
Paniotopoulos
Idiopathic focal
Syndrome (early
benign childhood
epi with occipital
spikes)
5 years
FH febrile sz
SCN1A/B
Sodium channel
Or GABRG2,
GabaA
?SCN1A
GTC with fever
after 6, or then
GTC without
fever, febrile
myoclonus
Pronounced
autonomic
features –
EMESIS, LOC,
atonia, head and
eye deviation,
salivation
Epilepsy with
myoclonic-astatic
(atonic) seizures
(Doose) 18 mo-5
yr, max at 3 years
BECTs
2-13 years
(9-10 max)
Idiopathic
generalized
Some with
SCNA1
Myoclonicatonic, massive
jerk, then drop
Idiopathic
genetic focal
AD Nocturnal
Frontal Lobe
Epilepsy
(ADNFLE)
11 years
Genetic focal
AD 15q23
More males,
elongator protein
complex ELP4
11p
AD
Nicotinic Ach R
CHRNA4
CHRNB2
Focal seizures
hemifacial
motor,
oropharyngeal
sensory, GTC
Jerking in
NREM sleep,
automatisms,
vocalizations,
dystonia
Normal
Favorable
Occipital
spikes, (30%
with other
spikes or
none), IEA is
shifting or
multifocal,
high amplitude
spikes
Atypical 4-7
Hz SW or
polySW, (or 24 Hz SW)
None, or
benzos, CBZ,
DPH, LEV
Remits after 1-2
years, favorable
outcome, many
have only 5-6
seizures
VPA, ESM,
TPM, ACTH,
ZNM, LMT,
ketogenic diet
Variable, 50%
remit
Diphasic trains
of
centrotemporal
spikes, often
bilateral
Ictally –
frontally
dominant slow
discharges
Often not
needed, or
GBP, CBZ,
PB, DPH,
VPA, OZC
All remit
Generally
favorable
Late-onset,
childhood occipital
onset epilepsy
(Gastaut)
8-9 years
Idiopathic focal 21-37% have FH
Visual colors,
hallucinations
and temporary
blindness,
hemiclonic sz,
automatisms
Epilepsy with
myoclonic/absence
s (Tassinari) or like
Jeavons eyelid
myoclonia
7 years
Lennox Gastaut
Syndrome
3-10 years
Idiopathic
generalized
Epileptic
encephalopathy
with continuous
SW during sleep
(CSWS) 4-7 yrs
Landau Kleffner
Syndrome (LKS)
3-8 years
Epileptic
30% abnormal
encephalopathy MRI
Loss of
consciousness
with severe
rhythmic
myoclonus and
absences
Tonic, absence
and atonic
seizures
(multiple types)
Generalized or
focal seizures,
atypical absence
in wakefulness
More boys (70%),
30% have family
history
Epileptic
75% have prior
encephalopathy insult, others
idiopathic
Epileptic
Hypometabolism
encephalopathy PET temporal
lobe
Acquired
aphasia
(verbal
auditory
agnosia, 80%
seizures
Occipital SW
on Eye closure
(attenuate with
eye opening)
“fixation off”
sensitivity,
ictal low ampl
fast spikes,
more in sleep
3 Hz SW
associated with
myoclonus,
30%
photoparoxysm
al
Slow 1.5-2.5
SW,
sleep GPFA at
10 Hz
CSWS -- 85%
SWS has SW
CBZ, VPA,
etc, wean after
2 yrs seizure
free
Favorable, remit
in adolescence
VPA, LMT,
ESX, CZP,
LEV, TPM,
Diamox
Some are resistant
to medications,
50% with
cognitive changes
VPA, CBZ
TPM, LMT,
RUF,
ketogenic diet
Diazepam,
Prednisone,
LEV, VPA,
ESM
MR,
developmental
delay
?callosotomy
Cognitive
deterioration, but
can improve, 25%
near normal
CSWS and
also in
wakefulness at
times
Diazepam,
Prednisone,
LEV, VPA,
LMT, ESM,
IvIG
Cognitive
changes, but
resolution of EEG
in adolescence
50% near normal
Childhood Absence
Epilepsy (CAE)
4-10 years
Idiopathic
generalized
Juvenile Absence
Epilepsy (JAE)
7-17 years
Juvenile Myoclonic
epilepsy (JME)
8-26 years
Idiopathic
generalized
Epilepsy with
Grand Mal seizures
on awakening
(EGMA) 16-19 yrs
Idiopathic
generalized
Adult
Mesial Temporal
lobe Epilepsy
MTLE
Idiopathic
generalized
Structural focal
AD lateral temporal Genetic focal
lobe epilepsy with
auditory features
15-25
Gaba R
Chloride channel
GABARG2, rh1
CLCN2
10% GLUT1, like
PKDyskinesia
EF-hand, EFHC1 CLCN2
Clustering
absences,
50% with GTC
3 Hz SW
4-20 sec
Ethosuximide,
VPA, LMT,
ketogenic diet
Normal
development, test
refractory for
GLUT 1
Sporadic
absences, most
have GTC
AM myoclonus
GTC >90%
Absences 30%
3.5 Hz SW
VPA, LMT,
LEV
Polyspikewave,
Photosensitive
in 30-35%
VPA, LEV,
TPM,
Felbamate,
Clobazam
Favorable, but
less likely to remit
with GTC
Lifelong seizures,
Problems with
semantic or verbal
fluency
GTC on
awakening, 80%
with myoclonis
or absence
>3 Hz SW,
photosensitive
VPA, LMT,
TPM, LEV
75% remit
MTS
Epigastic rising,
automatisms,
refractory
Anterior
temporal
epileptiform
actiivty
CBZ, OXC,
ZNM, LEV,
LMT, TPM,..
Refractory,
responds to
surgery
AD 10q24
Leucine-rich
repeat epilepsy
protein
Voltage gated
potassium
channels VGKC
Auditory
hallucinations
GabaA R
GABRA1
PPR1, (photic)
EF-hand motif
protein, EJM
CLCN2 gene
40% genetic,
60% male
Responds to
AEDs
Chromosomal
defects with
epilepsy
Wolf-Hirshhorn
Year 1
Glut 1 glucose
transporter defect
Angelman
Syndrome
18-24 months
Miller-Dieker
Chr 4, greek
warrior, beak
microceph
GLUT1
Low CSF glucose
Chr 15 happy
puppet
Ring 20
14-3-3
17p13
LISI YW2AE
lissencephalopath
y
20
Trisomy 21
21
Rett Syndrome
X chromosome
MECP2
Methyl CPG
binding protein
3-4 hz sw
Sz 6-12 months,
ataxia
GTC, CPS,
Absence
Ketogenic diet
2 hz SW
Low ear,
upslanting eyes,
high forehead
Eyelid
myoclonus,
nonconvulsive
absence status
Generalized
seizures more
common with
aging
Hand wringing
66% GTC
ACTH, benzos
Microcephaly,
atrophy
Cognitive
dysfunction,
Ataxia, tremor,
seizures improve
May be refractory
2-3 Hz SWand
frontal SW
Mild-moderate
learning problems
and refractory
seizures
Late gradually
progressive
dementia
Slow
background,
Central or
temporal
discharges
Regression,
microcephaly,
ataxia, autism, sz
Girls-only epilepsy
<3 years
Pyridoxine
deficiency
Birth to 3 months
Biotinidase
deficiency neonatal
Progressive
myoclonic
epilepsies
UnverrichtLundborg
Syndrome
6-15 years
Lafora Body
Disease
Neuronal ceroid
lipofuscinosis:
Jansky-
X linked, 50%
daughters,
PCDH19
Familial sporadic
AR
5q31
Lysine
degradation,
(antiquin
deficiency)
AR 3p25
AR Cystatin B
21q22
Clusters of
febrile seizures
1-3 months,
focal or
generalized
convulsive
Severe seizures
first few days of
life
Alopeicia,
dermatitis, GTC
GTC severe
myoclonus,
absences, ataxia
AR 6q24
Lafora bodies in
skin bx, PAS+
polyglucosan,
EPM2A mutation
AR, 11p15
Finnish (adult Ad
form) Typical
Treat with
Pyridoxine
GTC, blindness
Myoclonic,
atonic, GTC,
MR in 2/3,
psychiatric –
ADHD,
aggression,
psychosis,
variable outcome
Jittery, with less
sleep, MR
leukodystrophy
even with Rx
Treat with
biotin
SW at 2-3 or 46 Hz, slow
bkgd,
photosensitive
Starts at 3 Hz,
then 6-12 Hz
in late disease,
Photosensitive
at low
frequencies
Giant VEP,
occipital spikes
with low
VPA,
clobazam
?restrict carbs?
Gene rx, vit e,
c, methionine?
Progressive,
unfavorable, but
slow little
cognitive decline
Severe, to death in
2-10 years
Dementia,
psychosis, ataxia,
Death within 5-8
Bielshowski,
SpiegelmeyerVogt,
Battens, Kufs
lipopigment in
liposomes or
mutation TPP1,
CLN3, CLN5
absence
frequency
photic
years
Sialidosis
AR NEU1 Alpha
Neuraminidase
deficiency in
leukocytes,
galactosidase
Maternal more,
Mitochondrial,
t-RNA-lysine
mutation, MTTK
AD CAG repeat
Ataxia, cherry
red spot, GTC
and myoclonus
Low voltage
fast activity
10-20 Hz
vertex seizures
Gradual decline
MERRF
DRPLA
Neurocutaneous
Syndromes
NF1
NF2
Gen SW 2-5
Hz, sometimes
focal IEA
Chorea, ataxia
?
AD
AD
TS complex
Vigabatrin
Ataxia Telangiectasia
AR
Incontinenti Pigmenti
Xlinked
Sturge Weber
Sporadic
Maple syrup urine disease
DNPH
Low glucose
GTC
vertex and wicket spikes
hypotonia