Epilepsy Syndromes Flashcards
Childhood Absence
EEG
Typical - behavioral arrest, staring +/- eye fluttering
>2.5Hz GSW >3 seconds
Atypical - less abrupt onset, longer, variable impairment
1.5-2.5Hz GSW
CAE Genetics
Less often
Mutations in GABA - GABRG1, GABRA1
Think GLUT1 if onset <4 yo (10%)
CAE Animal Models
ACUTE: Pentylenetetrazole (PTZ) Penicillin THIB, GBL CHRONIC: GARES, Wistar Albino
CAE Tx
Ethosux > LTG, fewer SE vPA
Epilepsy With Myoclonic Absences
Epidemiology
Mostly Boys
Onset 7yo
Family Hx
MRI usually diffuse atrophy (17%)
Epilepsy with Myoclonic Absences
Semiology
EEG
Tx
Semiology: myoclonic jerk involving arms 10-60 seconds, usually upon awakening \+/-GTC, absence, drop sz Ictal EEG: 3Hz GSW intermixed polyspikes Tx: VPA, ethosuxmide
Myoclonic-atonic epilepsy (Doose Syndrome)
Clinical
Onset 1-5yo \+strong family history Normal at onset Semiology: myoclonic + atonic, also with mixed generalized seizures MRI normal
Dooses Syndrome EEG
Interictal: Bursts 2-3Hz gen spike, polypsike wave discharges, activated in sleep;
**4-7Hz theta activity over central and vertex regions specific findings
Ictal: single gen spike/polyspike discharges or 3-4Hz activity lasting 2-6 seconds.
MAE
Genetics
Treatment
GLUT1 - 5%, SCN1A
Tx: VPA, LTG, ESM, TPM , LVT, Ketogenic diet
LGS
Clinical Triad
- Multiple seizure types (tonic -esp nocturnal tonic), atonic, atypical absence, GTC, partial seizures
- slow spike and wave 1.5-2Hz, MISD,
- Cognitive decline
LGS
Clinical Hx
3-5 years onset
Infantile spasms preceed LGS 10-25 %
Etiology: structural/metabolic 70-78% (meningitis/encephalitis, dysplasia, hypoxia, TBI), unknown 22-30%
FHz 3-30%
ESES
Def: Epileptiform discharges >85% of NREM sleep
Two Syndromes:
1. LKS
2. CSWS
LKS
Onset 3-10 years Language regression with verbal auditory agnosia (word deafness, hearing normal) Seizures 2/3 Associated with ADHD MRI brain normal
CSWS
Global regression in cognition and behaviora
Most have seizures
Usually with identifiable pathology (migrational disorders, polymicrogyria, hydrocephalus, porencephaly, thalamic lesions)
Tx: VPA, ESM, BZD, IVIG, steroids, surgery
Juvenile Absence Epilesy
Less frequent absence seizures (one to few per day)
More frequently with GTCs 80%,
LOC, less severe
Onset 10-17years ol.
Juvenile Myoclonic Epilepsy
-Clinical
Onset 12-18yo
Seizures most upon awakening
Triggers: sleep deprivation, fatigue, stress, alcohol
Seizure type: myoclonic sz, GTC (80-95%) preceded by cluster of myoclonic, absence seizures
JME
Genetics
FHx +40-50% Inheritance polygenic Gene mutation: -GABRA1 - GABA R on chrom 5q32 -CLCN2 - Cl channel, 5q34 EFHC1 - 6p12
JME Treatment
VPA, LTG, TPM, LVT
Epilepsy With GTCs Only
GTC upon awaekning
Sleep deprivaition trigger
FHx +Generalized Epilepsy, Photosensitivity
Progressive Myoclonic Epilepsies
General
Group of epilepsy with severe myoclonic seizures, progressive neurologic deterioration (ataxia, dementia)
EEG: progressive slowing, GSW, MISD, photosensitivity at lower flash freqeuncies
PME
Lafora Disease MERRF NCL Sialidosis Uverricht-Lundborg disease Dentatorubral-pallidoluysian atrophy (DRPLA)
Audtosomal Dominant Nocturnal Frontal Lobe Epilepsy (ADNFLE)
Genetics
Neuronal nicotinic acetylcholine R subunits (CHRNA4, CHRNB2, CHRNA2)
ADNFLE
Seizure onset in childhood Mean age 11.7yo Seizures persist into adulthood Seizure semiology: sudent arousal from NREM sleep (stage II) with hyperkinetic tonic movements. May cluster. No LOC usually. Can have aura: sensory, psychic symptoms
ADNFLE
EEG
EEG normal
Ictal EEG bifrontal discharges.
Familial Temporal Lobe Epilespy (AD w/ incomplete penetrance)
Types
- Familial mesial temporal lobe epilepsy -/+ hippocampal sclerosis
- Familal lateral temporal lobe epilepsy (ADPEAF)
FMTLE w/wo hippocampal sclerosis
Clinical sx
Onset in adolescents or adulthood
Aura - mesotemporal origin (psychic and autonomic sx)
FMTLE w/ hippocampal sclerosis
CPE with automatisms
Mean onset 10 yo
+FHx of asymptomatic MTS
Benign course
FMTLE with febrile seizures
Onset 10-20 years
Benign course
Beni
Familial Lateral Temporal Lobe Epilepsy (Autosomal Dominant Partial Epilepsy with Auditory Features)
ADPEAF
Focal seizures with prominent auditory aura 64%
Benign course
LGI1 mutation in 50% of families.
Familial Focal Epilepsy with Variable Foci
Seizures and EEG findings different in each affected family Vs ADFLE -less seizures -Daytime seizures -More secondary generalization Rare clusters/auras Temporal or occiptal seizure foci.
Reflex Epilepsies
Specific stimulus or event elicits seizures
Typical triggers: visual stimuli, startle,reading , tactile, music, drawin/praxis, bathing, thinking, math, descision making and gaming
Gelastic Seizures
Diencephalic seizures = result of
Hypothalamic hamartoma
Seizures usually drug resistant
Hypothalaamic hamartoma
Development delay, epilepsy, behavioral d/o and central precocious puberty
Seizure:
- brief stereotyped mechanical laughter +/- mirth, no LOC, autonomic signs present
- Dacrystic seizures (Crying), tonic and atonic seizures
Hypothalamic hamartoma
Location
Location: infundibular stalk and mamillary bodies
intrahypothalamic (attaches to hypothalamus), parahypothalmus (within the floor of 3rd ventricle)
Usually sporadic
associated with Pallister Hall syndrome (GLI3 mutation)
EEG: slow background, multifocal/focal and generalized IED
Ictal EEG: variable
Tx: Laser
Benign Familial Neonatal Seizures (BFNS)
3rd day fits
KCNQ2/3 (chromosome 20 and 8)
Seizures: tonic posturing, apnea/cyanosis, autonomic signs, face/limb clonus 1-3 min
Tx: for 3-6 months
EIEE (Otahara Syndrome)
Semiology: frequent tonic seizures in isolation/clusters,
Onset: first 3 months of life
Etiology: structural brain lesions, also genes - STXBP1, CDKL5, ARX, KCNQ2
High mortality
Prognosis: profound Neurodevelopmental deficits
Tx: resistant to treatment, usually controlled by school aged
EME: Early Myoclonic Encephalopathy
Onset: First month of life
Semiology: Myoclonus in face and limbs, focal, tonic seizures > myoclonus resolves by weeks to months but focal seizures persist
Etiology: Metabolic disorders (glycine encephalopathy)
Prognosis: high risk of mortality, poor prognosis
EME EEG
multifocal spikes on slow background +/- periodic activity. Burst suppression (only in sleep) vs EIEE (all the time)
Migrating Partial Seizures of Infancy
Clinical
Initally developmental normal –> then seizures start 1week and 7months
Semiology: sporadic focal motor seizures >prolonged and cluster
extrapyramidal signs and tone worsens over time.
Prognosis is poor
Migrating Partial seizures of Infancy
EEG
Interictal: multifocal slowing –> disruption of sleep architecture.
Ictal EEG: multifocal seizures with migrates to different regions including rhythmical delta or sharp/spike waves.
Infantile Spasms
Clinical: Clusters of flexor/extensor spasms
Onset 5 mo (4-8mo)
Etiologies: symptomatic (75-86%) or asymptomatic
-Genetic - ARX, STXBP1
-Metabolic, congenital infection, neonatal infection.
Prognosis: ID 75-90%
-Tx: ACTH, vigabatrin, ketogenic diet, zonisamide, vitamin B6
Myoclonic Epilepsy in Infancy (MEI)
Onset: 4mo - 3 yo.
Semiology: axial or UE myoclonic jerks with head drops, trunk flexion or extension, LE rarely involved
Subgroup - reflex myoclonic seizures
Usually normal development
MEI
EEG + Tx
EEG generalized spike, polyspike lasting 1-3 seconds.
+/- Photosensitive
Tx: VPA, LEV, CZP
Benign Infantile Sz
Onset: 3-20 mo
Normal development
Familial Form: 4-7months onset, F>M, PRRT2, ASC1, SCNA2
Seizures: focal clonic seizures, +/- secondary generalization
Interictal EEG: normal
Ictal EEg: focal ictal onset, posterior or temporal
EEG: MEI vs BIS vs IS
MEI: generalized d/c, normal background
Benign infantile seizures: normal EEG
IS: hysparrhythmia
Myoclonic Encephalopathy in Nonprogressive Disorders
- Absence +myoclonic seizures
- Alternating bilateral positive + negative myoclonic
- Mild onset focal facial (then limb seizures)
Absence + Myoclonic Seizures
EEG: theta-delta or delta with spikes
Diagnosed within 1st year of life
Etiology: Genetic (Angelman, PWS, Retts)
Tx: ESM+VPA
Alternating bilateral positive + negative myoclonic
EEG: diffuse rhythmic slow spike-waves or multifocal spike waves or theta-delta
Clinical: dyskinetic movements, onset <6yo, intractable seizures, poor development
Mild onset with focal facial seizures
Onset: 7mo to 5 yo
EEG: GSW or bilateral continuous slow wave activity
Clinical: deterioration with pyramidal and extrapyramidal signs. Seizures intractable.
Febrile Seizures
Onset: 1mo to 5yo
Semiology: GTC
Incidence 3-5% population
Mean age of presentation 18mo (12-30mo)
Recurrence of Febrile seizures
~33% will have second FS
1/2 of those will have a 3rd (7-30%)
~50% recur in the 1st 6mo, 75-90% recur in the 1st year
Factors that influence FS recurrence
- Age (<1 year ) - doubles risk
- FS in 1st degree relative,
- Low grade fever at seizure onset
Risk Factors that influence developing Epilepsy after FS
- Positive family history of epilepsy
- Abnormal development
- Complex febrile seizure
- Postictal Todds
- # of febrile seizures (mores seizures = greater risk)
- Duration of febrile seizures (longer seizures = greater seizure)
GEFS+
FS after 6yo or occurrence of other seizure types
Mutations: SCN1A, SCN1B, GABRG2
Mutations only seen in 10-20% of GEFS+
Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy (SMEI)
Clinical: Prolonged FS in 1st year of life, seizure free period > followed by myoclonic seizures at 1-4 years .
Development normal > deteriorates
Mutations 70-80% have mutations in SCN1A
Genetic testing recommended
Dravet’s syndrome
EEG
Tx
EEG: Spike and slow wave or polyspike and wave
Tx: Avoid Na channel medication, avoid heat
BECTS
Common Focal Epilepsy in childhood
Onset 2-14 yo
Semiology: sensory symptoms, in tongue, lips, gums, cheek, drooling, motor symptoms tongue/larynx/pharynx
Seizures usually in sleep (1st part of night)
Prognosis: Usually outgrown by 16
BECTS
EEG + Tx
Spikes centrotemporal , parietal regions
Increased in drowsiness/sleep.
Slowing after spikes = harder to control
Tx: Usually not indicated, but if treating - CBZ, OXC, LEV, VPA, GPN, Sulthiame
Panaiotopoulos Syndrome
Peak onset 3-6yo
Seizures: Behavioral agitation, headache, autonomic symptoms, motor (hemiclonic/GTC)
Tend to be prolonged
Autonomic symptoms: vomting pallor, cyanosis
EEG: occipital spikes in sleep
85% of pts have <5 seizures
2/3 are out of sleep.
Gastaut Syndrome (Late childhood onset occipital epilepsy)
Peak onset 8-11 yo Semiology: Elementary visual auras + partial vision loss or focal seizures, frequently associated HA *Autonomic features are not prominent Frequent seizures, but duration shorter Daytime seizures common
Gastaut syndrome
EEG
Interictal EEG: occipital spikes in sleep, but can be seen elsewhere.
Rassmusen
Onset 3-14 years
Normal development prior to onset of seizures
+/- febrile illness prior to first seizure
Diagnostic Criteria: (all three criteria in A or 2/3 in part B)
Part A:
1. Clinical: Focal seizures (+/- EPC) unilateral cortical deficits
2. EEG: unihemispheric slowing +/- IED, and unilateral seizure onset
3. MRI: Unihemispheric focal cortical atrophy and
-Gray or white matter T2/FLAIR hyperintensity
-Hyperintense signal/atrophy of ipsilateral caudate head
Part B :
1. Clinical: EPC or progressive unilateral cortical deficits
2. MRI: progressive unihemispheric focal atrophy
3. Histopath: T cell dominated encephalities w/ activated microlgial cells
Rassmussens Treatmetn
Antiseizure meds - but refractory
IVIG, Steroids, Cyclophospha-mide
Hemispherectomy
Prognosis -> preop level of function
hemiconvulsions-hemiplegia epilepsy syndrome (HHES).
Usually hx of febrile seizure
Onset in early childhood (5 months to 4 years) of prolonged hemiconvulsions followed by ipsilateral hemiplegia lasting more than 7 days.
In 80% of patients, the hemiplegia becomes permanent.
