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
