Common Epilepsy Syndromes

Encountered in Everyday Practice

Paula Gerber, M.D.
Grand Rounds
Providence Portland Medical Center
January 21, 2009
Objectives
Review epidemiology of seizures and
epilepsy
Review seizure and epilepsy terminology
Review three common epilepsy syndromes
and their typical presentations
Mesial temporal lobe epilepsy
Idiopathic generalized epilepsy
*Psychogenic non-epileptic seizures*
Epidemiology
~10 % of people will have a seizure some
time in their life
~0.5-1% of the population has epilepsy
Defined as 2 or more unprovoked seizures
Partial-onset ~60%
Generalized-onset ~40%
Classification of Seizures
Generalized
Partial
Simple
Complex
Generalized seizures: phenotype
Tonic-clonic=grand mal
Tonic
Clonic
Atonic (Astatic)=drop attacks
Myoclonic
Absence
A word about absence
seizures
Absence seizures are seen in specific,
childhood and adolescent-onset epilepsy
syndromes
Petit mal seizure=absence seizure
Typically very brief staring spell, <30
seconds, can have automatisms but less
prominent
Little to no postictal confusion

Partial seizures
Simple partial seizure=aura
Depends on the cortical area from which it
arises
Neocortex: somatosensory and motor symptoms
Limbic structures: rising epigastric sensation, smell,
taste, fear, dj vu, jamais vu
Can be sensory or motor
Motor can be tonic or clonic
Consciousness is preserved
Partial seizures
Complex partial seizure
Again, depends on the cortical area from which
it arises
Consciousness is impaired
This can sometimes only be manifest as amnesia for
the event
Can have aura (simple partial seizure) that
evolves into complex partial seizure
Can have secondarily generalized convulsions
Classification of Epilepsy
Generalized vs. Localization-related
Idiopathic, Symptomatic, or Cryptogenic
Idiopathic: idio=ones own path=disease
Translation: genetic mutation
Symptomatic: from a known cerebral insult or
degenerative process
Cryptogenic: presumed symptomatic, but no
evidence of an insult can be found
Case #1
23 yo LH male presents to establish care.
PMH: Epilepsy beginning in adolescence.
He reports a history of febrile seizures as an
infant, but then remained seizure free until
the age of 13, when he began having
recurrent seizures.
I have big ones and little ones.
Case #1 cont.
Little ones: a sensation of dj vu, followed by
spacing out. Family reports lip smacking,
staring, and fumbling with hands. Afterward, he is
confused and does not recall what happened. The
episodes last ~1 minute and occur 3-4 times per
week.
Big ones: a few times per year, he has the above
symptoms followed by a generalized convulsion.
Case #1 cont.
Medications: oxcarbazepine (Trileptal) and
lamotrigine (Lamictal)
Past medications: phenytoin (Dilantin),
carbamazepine (Tegretol), valproate
(Depakote)

Case #1 cont.
SHx: The patient works as a checker at WalMart,
but he is in danger of losing his job due to
frequent seizures at work. He is unable to drive.
He performed poorly in school and reports
difficulty with concentration and memory. He is
single and lives with his parents.
FHx: Uncle had seizures; pt does not know details.
Case #1 cont.
Exam shows slight flattening of R
nasolabial fold and subtle reduced finger
tapping on the R
VIDEO
Mesial Temporal Lobe Epilepsy
AKA: temporal lobe epilepsy, psychomotor
epilepsy
Most commonly caused by mesial temporal
sclerosis or hippocampal sclerosis
Other causes: neoplasm, vascular
malformation, cortical malformations
Mesial Temporal Sclerosis
Most common cause of MTLE (estimated ~70%
of cases)
Risk factors: febrile seizures, perinatal insult, CNS
infection, head trauma
Typically early insult +/- febrile seizures, followed
by latent period, then refractory seizures develop
in late childhood or adolescence
Is it the cause or the effect of seizures?
Mesial Temporal Sclerosis:
Pathology
MRI shows a small, bright hippocampus
with disrupted internal architecture
Pathology shows loss of cells most
prominently in the CA1 region of the
hippocampus
Cell loss also occurs outside the
hippocampus, hence the broader term
mesial temporal sclerosis
Mesial Temporal Sclerosis
EEG shows anterior and mid-temporal
spikes and intermittent temporal slowing
Kuzniecky R and Devinsky O (2007) Surgery Insight: surgical management of epilepsy
Nat Clin Pract Neurol 3: 673681 10.1038/ncpneuro0663
Figure 1 Surgery for temporal lobe epilepsy
Mesial Temporal Sclerosis:
typical seizure
Aura: rising epigastric sensation, also taste, smell,
nausea, fear, dj vu, jamais vu
Staring, widened eyes, dilated pupils
Lip smacking, chewing
Ipsilateral automatisms
Contralateral dystonic posturing
Postictal nose wiping
Patient may speak during the episode, but is
amnestic to the event afterward
Mesial Temporal Sclerosis:
typical seizure
Autonomic signs and symptoms:
Abdominal sensations
Apnea
Arrhythmias/bradyarrhythmias
Chest pain
Cyanosis
Erythema
Flushing
Genital sensations/orgasm
Hyperventilation
Lacrimation
Miosis/mydriasis/hippus
Palpitations
Perspiration
Pilomotor excitation
Tachycardia
Urinary urgency/incontinence
Vomiting
From Jerome Engel Jr., MD, PhD, Timothy A. Pedley MD, eds.
Epilepsy: A Comprehensive Textbook.
Mesial temporal lobe epilepsy:
the BAD news
Typically refractory to medications
Seizures are frequent and debilitating,
interfering with ability to drive, work,
maintain relationships
Some patients develop significant post-ictal
agitation and even psychosis
Memory and cognitive problems develop
over time
The grim news about medications
Kwan and Brodie (2000):
525 new-onset epilepsy patients followed over 13
years
47% patients responded to 1
st
drug
14% responded to a second or third drug
3% responded to combination therapy
Overall, 63% of patients were controlled with
medication
That means 37% of patients were refractory!
More grim news
AEDs have significant side effects:
Bone loss with phenytoin, carbamazepine, valproate
Hematologic, dermatologic and hepatic toxicity
Birth defects (especially valproate)
Renal stones: topiramate, zonisamide
Cerebellar degeneration, peripheral neuropathy, gum
hyperplasia with phenytoin
Somnolence, ataxia, weight gain/loss, tremor: many
Mesial temporal lobe epilepsy:
the GOOD news
MTLE can be successfully treated with
surgery
The prototypical syndrome for surgical
treatment of epilepsy
Mesial temporal lobe epilepsy:
the GOOD news
Anterior temporal lobectomy or selective
amygdalohippocampectomy have been
shown to be effective, with seizure freedom
rates of 60-80%
Bottom line: after failure of 2-3
medications, these patients should be
evaluated for possible surgery
Mesial Temporal Lobe Epilepsy
Dont let these patients slip through the
cracks!
Case #2
16 yo male presents to ED with new
generalized tonic-clonic seizure that
occurred while playing his new Nintendo
Wii. On questioning, admits to having had
some alcohol at the prom the night before.
Also, he has been sleep-deprived, up late
studying for finals.
Case #2 cont.
Normal birth and development.
Meds: none
FH: A cousin had petite mal seizures as a
child, but grew out of them.
Exam: Normal.
ROS: Sometimes has jerks, especially in
the morning, which cause him to drop
things. He thought he was just clumsy.
VIDEO--GTC
Video-absence
Idiopathic Generalized Epilepsy
Syndrome of generalized tonic-clonic,
myoclonic, and absence seizures=Juvenile
Myoclonic Epilepsy
IGE also includes:
Childhood and Juvenile Absence Epilepsies,
Epilepsy with Generalized tonic-clonic
seizures only
GEFS+
Idiopathic generalized epilepsy
Typically childhood or adolescent onset, but
patients can present in young adulthood
Seizures are sensitive to alcohol use, sleep
deprivation, +/- photic stimulation
Patients are otherwise NORMAL
Exam and MRI are NORMAL
EEG shows generalized spike and wave
with a normal background
Idiopathic Generalized Epilepsy
Caused by genetic mutations in ion
channels
Many genes and inheritance patterns have
been identified
Most likely IGE is a spectrum of
phenotypes caused by many different
genotypes
Idiopathic generalized epilepsy
Important clinical pearl: phenytoin and
carbamazepine are CONTRAINDICATED
and may make seizures worse
Other meds that are considered to be
contraindicated are: oxcarbazepine,
gabapentin, tiagabine, vigabatrin
Appropriate: Valproate, lamotrigine,
topiramate, zonisamide, levetiracetam
Case #3
26 yo woman presents with new onset
seizures x 6 months.
She describes multiple events:
1) headache and tingly all over
2) Shaking of arms and unresponsive
3) flop around like a fish


Case #3 cont.
Events can last from 30 minutes to several
hours, with a waxing and waning character
PMH: migraine headaches, fibromyalgia,
irritable bowel syndrome, depression
SH: Reports history of physical abuse by
stepfather as a child and more recently by
ex-husband.
Case #3 cont.
Meds: Trileptal, Depakote, Lamictal,
Zoloft, Cymbalta, Flexeril, Percocet
ROS: C/o excessive fatigue, back and head
pain, memory and concentration problems,
depressed mood, panic attacks
VIDEO
Psychogenic Non-epileptic Seizures
Formerly known as pseudoseizures
I prefer non-epileptic events
5-20% of seizures in outpatients
10-40% of seizures in inpatient monitoring units
History of previous abuse is common, as is a
history of psychiatric disease and chronic
pain/fatigue syndromes
Female>male
Psychogenic Non-epileptic Seizures
Distinguishing features:
Non-stereotyped
Long duration
Precipitated by stress or pain
Pelvic thrusting
Eye closure
Pseudo-catastrophic presentation with very
frequent events, multiple ER visits
Psychogenic Non-epileptic Seizures
Eye closure:
Chung et al (2006):
234 consecutive EMU patients
938 ictal events
Eye closure had positive predictive value of 94% for
PNES
Sensitivity of 96.2% and specificity of 98.1%
Caveats: episodes without altered consciousness or
significant motor activity (unpublished observation)
Also helpful for non-epileptic, physiologic events (e.g.
syncope)
Psychogenic Non-epileptic Events
Treatment: get off toxic AEDs! They are
often contributing to patients neurological
complaints.
Be honest, address the problem, and refer
for psychiatric help
Bottom line: dont just keep adding AEDs,
send these patients for monitoring to
confirm the dx
QUESTIONS?