epilepsy syndromes Flashcards
Age of onset (range + peak)
Childhood Absence Epilepsy (CAE)
Juvenile Absence Epilepsy (JAE)
Epilepsy with Myoclonic Absences (EMA)
CAE: 4-8 years (peak 6)
JAE: 8-20 years (peak 9-13)
EMA: 1-12 years (peak 7)
Epilepsy with Myoclonic-Atonic seizures (EMAS)
Specific EEG finding
4-7 Hz rhythmic theta activity over central regions and vertex
Epilepsy with Myoclonic-Atonic seizures:
AKA:
Age of onset
First seizure type often seen
% of patient’s with family history
Two common mutations
AKA: Doose
Age of onset: 1-5 years
First seizure type often seen: GTC (75-95%)
% of patient’s with family history of epilepsy: 15-32%
Two “common” mutations: SCN1A and Glut-1
Triad required to diagnose Lennox-Gastaut Syndrome
Category 1:
Category 2:
Category 3
- Multiple seizure types
- EEG features
- Slow background
- Generalized 1.5-2 Hz discharges
- Multifocal discharges
- Generalized fast activity (10-25 Hz)
3: Cognitive dysfunction
Lennox-Gastaut Syndrome
Age of onset:
% preceded by spasms:
% with no clear cause
% with family history of epilepsy
Age of onset: 3-5 years
% preceded by spasms: 10-25%
% with no clear cause (22-30%)
% with family history of epilepsy: 3-30%
ways to clinically differentiate seizures in JAE compared to CAE (3)
- seizures less frequent with JAE (1- a few per day)
- JAE more frequently associated with GTC (80%)
- Impairment of consciousness less severe with JAE
Seizures in JME:
Age of onset:
Myoclonic %:
GTC %:
Absence %:
Age of onset: 12-18 years (peak 14.6)
Myoclonic: 100% (required for diagnosis)
GTC: 80-95% - often preceded by cluster of myoclonic jerks
Absence: 18-38%
More JME %s
% of patients with family history of epilepsy
% with photosensitivity
40-50% have family history
30% have photosensitivity
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)
Associated Genes:
Age of onset
Neuronal nicotinic acetylcholilne receptor subunits (CHRNA4, CHRNB2, CHRNA2)
11.7 years
Autosomal Dominant Partial Epilepsy with Auditory Features (ADPEAF):
- Course
- Commonly associated gene
Course: Benign
Gene: leucine-rich glioma inactivated 1 (LGI-1) gene
Familial Focal Epilepsy with Viariable Foci
Most commonly affected lobe
Inheritance:
Penetrance:
Chromosome location
Most commonly affected lobe: Frontal
Inheritance: Autosomal dominant
Penetrance: 70%
Chromosome; 22q12
Patient with Gelastic Seizures: What GENETIC condition can be associated with the commonly found imaging finding
GLI3 mutation : pallister-hall syndrome
Seizure types seen with Hypothalamic Hamartoma:
Most common
Others (3)
Most common: gelastic (laughing)
Others
- Dacrystic (crying)
- tonic
- atonic
Patient posturing, apnea / cyanosis, autonomic signs and clonic motion. EEG normal. What mutations on which chromosomes could this patient have
Benigh Familial Neonatal Seizures (BFNS, or “3rd day fits”)
KCNQ2 - Chromosome 20
KCNQ3 - Chromosome 8
Otahara Syndrome
Onset
Most common etiology
Other associated genes (4)
Onset - first 3 months
Most common etiology: structural brain lesions
Other genes
- STXBP1
- CDKL5
- ARX
- KCNQ2
EEG feature distinguishing Ohtarahara syndrome (EIEE) with Early Myoclonic Encephalopathy
EME has burst suppression pattern is more distinct during sleep (Ohtahara = in all states)
Age of onset - Migrating partial seizures of infancy
1 week - 7 months (mean 3 months)
Dyslexia trip-up
Differentiate EME with MEI
- Onset
- Seizure types
- EEG
- Prognosis
Early Myoclonic Encephalopathy (EME)
- Onset first month of life
- Seizures
- myoclonus of limbs + face
- Spasms
- Focal seizures
- EEG: Suppression burst pattern + periodic activity
- Prognosis: very bad
Myoclonic Epilepsy of Infancy (MEI)
- Onset: 4 mo-3 years
- Seizures
- axial or upper extremity myoclonic jerks + head drop
- (subcategory) reflex epilepsies
- EEG: diffuse spike/polyspikes lasting 1-3 seconds
- Prognosis: good (typically outgrow)
Benign infantile seizures
Onset (2)
Males:Females (2)
Genetics (2)
Onset
- Familial: 4/7 months
- non-familial: 3-20 months (up to 2 years)
Male:Female ratio
- Familial: female
- Non-familial: no preference
Genetics (familial form)
- PRRT (same as paroxysmal kinesigenic dyskinesia)
- ASC-1
- SCN2A
Myoclonic Encephalopathy in Non-progressive disorders
List 3 subtypes
Absence + myoclonic seizures
Alternating bilateral positive and negative myoclonus
Mild onset with focal facial (then limbs) seizures
Absence +Myoclonic seizures
- Subtype of _____
- Onset
- EEG
- Associated conditions (name 3)
- Treatment
- Subtype of Myoclonic Encephalopathy in Nonprogressive disorders
- Onset: 1st year
- EEG: Theta/delta or delta+Spikes
- Associated conditions (there are others)
- Angelman
- Prader-Willi
- Rett
- Treatment: ESM + VPA
Alternating Bilateral positive and negative myoclonus:
- subtype of _____
- Onset
- EEG (3 potential)
- Other potential clinical feature
- Associated condition
- Prognosis
- Subtype of Myoclonic Encephalopathy in Non-Progressive d/o
- Onset: at or before 6 years
- EEG:
- Rhythmic slow spike-waves
- multifocal spike-waves
- theta-delta
- Other clinical feature: may also have dyskinetic movements
- Associated condition
- Structural brain malformations
- Prognosis: non-progressive, but very stunted development
Mild onset with focal facial seizures
- Subtype of
- Onset:
- EEG (2)
- Associated conditions
- other symptom
- Prognosis
- Subtype of Myoclonic Encephalopathy in Non-Progressive d/o
- Onset: 7mo-5 years
- EEG
- Generalized spike-waves
- Bilateral continuous slow activity
- Associated conditions; neonatal anoxia (potentially)
- Other potential feature: myoclonus
- Prognosis
- Clinical deterioration (both pyramidal and extrapyramidal signs
Febrile Seizures - Epidemiology
- % of people in US who will have a febrile seizure
- Approx age range
- Median age
- % of patients with siblings w/ FS
- % of people in US who will have a febrile seizure: 3-5%
- Age range: Half of patients have onset between 12 and 30 months
- Median age: 18 months
- % of patients with siblings w/ FS
Febrile seizures - Epidemiology
- % who will have second Febrile Sz
- If second, % you will have third
- % that will recur in first 6 month
- % that will recur in first year
- % who will have second: 33%
- If second, % you will have third: 50%
- % that will recur in first 6 month: 50%
- % that will recur in first year: 75-90%
Febrile seizures:
Factors that affect recurrence (3)
- Age : risk doubles if <1 year
- 1st degree relative with FS (roughly doubles)
- low grade fever at time of onset
Febrile seizures, factors that increase risk of developing epilepsy
- Positive family history of epilepsy
- abnormal neurodevelopment
- occurrence of complex febrile seizure
postictal todd’s paralysis - increased number of febrile seizures
- longer duration of seizure
Dravet syndrome:
Typical course
- Febrile seizure in 1st year
- Seizure free period followed by myoclonic seizures at 1-4 years
- Normal early development, then deterioration
SeLECTS:
Onset - range
Onset - peak range
Onset range: 2-14 years
Peak range: 7-10 years
SeLECTS:
- Less common initial semiology
- % that only have symptoms while awake
- sensory sensations in tongue, lips, gums, or cheek
- 10-20%
SeLECTS:
Age by which point seizures are outgrown
Why it is “recommended” not to treat
- 16
- Nearly 80% have <6 seizures
Panayiotopolous Syndrome
- AKA
- Onset
- AKA: Early Childhood Onset “occipital” epilepsy
- Onset 3-6 years
Panayiotopolous Syndrome
- Semiology
- Initial: Behavioral agitation > headache
> autonomic symptoms- Vomiting
- Pallor
- Cyanosis
>may progress to hemiclonic / GTC
Panayiotopolous Syndrome
-% who will have > 5 seizures in lifetime
- % with seizures out of sleep
15%
67% (2/3)
Gastaut Syndrome (late Childhood onset “occipital” Epilepsy
- Onset
- Semiology (3)
- Prognosis
- Onset: 8-11 years
- Initial semiology
- Elementary visual auras
+/- > partial vision loss
+/- > progress to focal motor
- Elementary visual auras
- Tend to remit 2-7 years after onset
Differences between Gastaut syndrome and Panayiotopolous Syndrome
- Age of onset
- Semiology
- Duration
- Timing
Age of Onset
- PS: 3-6
- GS: 8-11
Semiology
- PS: autonomic > hemiclonic/GTC
- GS: elementary visual aura > very rarely GTC
Duration:
- PS: can be prolonged (SE)
- GS: frequent but short
Timing
- PS: 2/3 at night
- GS: typically daytime
Rasmussen Syndrome
- Onset:
- Antecedent conditions and what it means
Onset: 3-14 years
- May be preceded by nonspecific illness or in patients with autoimmune conditions
- Believed to have autoimmune cause
Rasmussen Syndrome: Treatment
Category 1
Category 2
Category 3
Category 1: traditional ASM
Category 2: Immunomodulators
- Steroids
- IVIG
- Chemotherapy (i.e. cyclophosphamide)
Category 3: surgery (hemispherectomy)
Rasmussen Syndrome: factors affecting prognosis post surgery
Preoperative level of function
Patient presents with history of seizures involving acoustic hallucinations
Name possible gene and two names for this disorder
Gene: LGI1
Disorder: Autosomal dominant lateral temporal lobe epilepsy (ADLTLE)
OR
Autosomal Dominant partial epilepsy with Auditory Features (ADPEAF)
What condition does this patient have?
Tuberous sclerosis (left parieto-occipital and right frontal FLAIR lesions + linear streak of white matter hyperintensity
“Nevus flameous” is assocaited with what condition?
facial capilary angioma (sturge weber)
Angelman Syndrome:
- Chromosome
- physical / clinical features (5)
- Likelihood of seizures:
- Typical age of seizure onset
- Seizure types (4)
Chromosome: 15
Clinical features
- Severe developmental delay
- Prominent jaw
- microcephaly
- Jerky limb movements
- Inappropriate “happy” demeanor
Rate of Epilepsy: 85%
Age of seizure onset: first 3 years
Most frequent seizure types:
- Atypical absences
- GTC
- Atonic
-Myoclonic
Angelman syndrome:
Chromosome location
Types of inheritance (4)
Chromosome: 15q11.2-q13
Types of inheritance:
- 70% de novo maternal deletions
- 2% paternal uniparental disomy
- 3% imprinting defect
- Subset of remaining 25%: UBE3A mutation
Risk factors for severe cognitive impairment in LGS
- Big one
- Three others
- Big one; non-convulsive status epilepticus
Three others - Previous diagnosis of West syndrome
- symptomatic etiology
- early age of onset of epilepsy
Patient with Myoclonic jaw jerks when reading
- What questions should you ask? (5)
Primary Reading Epilepsy (PRE)
- is there a family history of this? (can have family history)
- do you have sensations before the movement? (“clicking” sensations a few minutes before seizure can be seen
- Is it more common when reading aloud? (can be the case)
- Is it more common with difficult-to-read things (can be the case)
- Does it happen when you’re just talking? (25% can be triggered by fast or argumentative talking)
Ictal EEG features of Primary Reading Epilepsy
Bursts of bilateral sharp waves with left temporo-parietal predominance
Factor that can potentially trigger seizures during sleep with JME
Arousals (induced or spontaneous)
Variances of Progressive Myoclonic Epilepsies (1 of 2):
What types could the following features suggest:
Very Prominent Myoclonus (3)
Absent Electroretinogram (2)
Photosensitivity (2)
Partial seizures of occipital origin (1)
Very Prominent Myoclonus
- Unverricht-lundborg Disease (ULD)
- Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
- Sialidosis
Absent Electroretinogram
- late infantile NCL
- Juvenile NCL
Photosensitivity
- late infantile NCL
- Adult NCL
Partial seizures of occipital origin
- Lafora body Disease (LFD)
Variances of Progressive Myoclonic Epilepsies (2 of 2):
What types could the following features suggest:
Vertex abnormalities neuropathy (1)
Dysmorphic features (2)
Deafness, optic atrophy, lipomas, myopathy (1)
Lymphocyte vacuolation (2)
Elevated blood and CSF lactate (1)
Vertex abnormalities neuropathy
- Sialidoses
Dysmorphic features
- Sialidoses
- (less commonly) MERRF
Deafness, optic atrophy, lipomas, myopathy
- MERRF
Lymphocyte vacuolation (2)
- Sialidosis
- Sometimes MERRF
Elevated blood and CSF lactate
- MERRF
Important cardiac feature to look for in Rett syndrome
Prolonged QT
Important respiratory feature to look for in Rett syndrome
breathing irregularities
