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Idiopathicepilepsysyndromes
PANISRASUDACHAN,M.D.PediatricNeurologistPediatricNeurologyDepartmentPrasat NeurologicalInstitue
Epilepsycourse
26August2017
Unknown
Immune
Infectious
Structural
Etiology
Metabolic
Genetic
Epilepsytypes
Focal GeneralizedCombinedGeneralized&Focal
UnknownFocal
EpilepsySyndromes
SeizuretypesGeneralized
onsetUnknownonset
Focalonset
Classification
• 1964
• 1970
• 1981
• 1989
• 2001
• 2006
• 2010
• 2013
• 2017
Nonepilepticevents
Semiology&
EEGFinding
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Identifyofepilepsysyndromesbasedon:
• Typicalageonset
• Seizuretypes
• specificEEG characteristics
• Otherfeaturesorrelatedsymptoms
• Implicationsfortreatment,management,andprognosis
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no approvedILAEepilepsysyndromes
https://www.epilepsydiagnosis.org
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EasyguideforEpilepsysyndrome“Patterndiagnosis”
SeizuresEpilepsy
Epilepsysyndrome
Development
Ageofonset
Seizuretypes
IEDs
Testing:GeneticMRI
Epilepsysyndrome
Age
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Idiopathicepilepsysyndromes
•Asyndromicthatisonlyepilepsy,withnounderlyingstructuralbrainlesionorotherneurologicalsignsorsymptoms.Thesearepresumedtobegeneticandareusuallyage-dependent.
IdiopathicEpilepsySyndromes
§ Idiopathic/Genetic GeneralizedEpilepsy
§ Idiopathic/Self-LimitedFocalEpilepsy
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‘Idiopathic/GeneticGeneralizedEpilepsies’
ChildhoodAbsenceEpilepsy
GeneralizedTonic-Clonic
SeizuresAlone
JuvenileAbsenceEpilepsy
JuvenileMyoclonicEpilepsy
ChildhoodabsenceepilepsyAgeofonset 2-12years(peak5-6years)
Seizuretype Absenceonly (multipledaily,brief,LOA)
EEGIEDS:3HzGeneralizedspikesandwaves;Normalbackground,OIRDA
Tests:Genetic SLC2A1,GABRG2andCACNA1A
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Childhoodabsenceepilepsy
O1
O2
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1SEC
Generalized3-Hz-spike-and-waves
JuvenileabsenceepilepsyAgeofonset 8-20years(peak9-13years)
SeizuretypeAbsence(notfrequent,notsevere,awareness)GTCatonset->AbsenceinadolescentGCs(80%ofcases,uponawakening)
EEGIEDS:3-6HzGeneralizedspikes/polyspikes andwaves,normalbackground,OIRDA(may)Ictal:Absence:Regular3-6HzGSWorPSW
GCs :EEGobscurebyartifact,generalizedfastrhythmicspikes-tonicphase,spikeandslowwavesandpostictalperiodslowing
Tests:Genetic GABRG2,CACNA1A andothers
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JAE-EEG
Juvenileabsenceepilepsy
JuvenilemyoclonicepilepsyAgeofonset 8-25years(peak9-13years) 5%ofcasesfromCAE
SeizuretypeMyoclonic (mandatory),especiallyonawakening(within30min-1hr)GTCs (>90%)precededbyseriesofmyoclonic,Absence (1/3ofcases,briefer<3seconds)
EEGIEDS:3.5-6HzGSW/PSW,normalbackground,fragmentshyperventilation mayprovokedabsence,<10%szinducedbyvisualstimuliIctal:singlegeneralizedPSWcorrelateswithmyoclonicseizures
Tests:GeneticComplexorMendelianCACNB4,GABRA1,CLCN2,GABRDandEFHC1,Microdeletions,suchasthe15q13.3microdeletion andothers
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EpilepsywithGTCsaloneAgeofonset 5-40years(peak11-23years)
SeizuretypeGCsespecially onawakening(within1-2hr ofwakening)infrequent,typicallyprovokedbysleepdeprivation,PHofchildhoodabsenceepilepsy
EEGIEDS:GSW/PSW(½ofcasesseenonlyduringsleep)fragmented,intermittentphotoparoxysmal response,normalBG(noslowing)Ictal:GCs:IctalEEGpatterns
Tests:Genetic complex inheritance,CLCN2andothers.
‘Self-LimitedFocalEpilepsies’
BenignEpilepsywithCentroTemporalSpikes(BECTS)
Self-limitedfrontal/temporal/parietallobeepilepsies
Self-LimitedOccipitalEpilepsyofChildhood:Panayiotopoulostype
(early-onset):PS
COE-GGastaut type(lateonset)
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BenignChildhoodEpilepsywithCentrotemporal Spikes
Ageofonset 3-14years(peak8-9years)
Seizuretype
Fronto-parietalopercular features–hemifacial(lip,mouth andtongue),clonic movements(withmaybeunilateral),laryngealsymptoms,articulardifficulty(aphasia),swallowing orchewingmovementsandhypersalivation,brief(<5minutes),Few,(may)secondarilygeneralize(typicallynocturnal events) (notGTCduringawake)Self-limited usuallyresolvedbyage13years(occasionallyoccuruptoage18years)
BenignChildhoodEpilepsywithCentrotemporal Spikes
EEG
IEDs:Highamp.Centrotemporal SpikesorSharp-and-slowwavecomplexes,max.negativityinCT(C3/C4andT3/T4)andmax.positivityF,increasedduringdrowsinessandsleep,unilat orbilat,(may)SPKoutsideCTregion(midline,parietal,frontalandoccipital), (may)photoresponsive (age.10yrs),10-20%-bysensorystimulioffingersortoesIctal:rare toobtainedictalrecording
Tests:Genetic Complexinheritance,GRIN2Agene
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BenignChildhoodEpilepsywithCentrotemporal Spikes
BenignChildhoodEpilepsywithCentrotemporalSpikes
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BenignChildhoodEpilepsywithCentrotemporal Spikes
BenignChildhoodEpilepsywithCentrotemporal Spikes
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PanayiotopoulossyndromeAgeofonset 1-14years(peak3-6years)
Self-limiting,resolvebyage11-13years
Seizuretype Autonomicfeaturesmainlyemetic (nausea,retching,vomiting),pupillary (mydriasis),circulatory (pallor,cyanosis),heartandrespiratorychange.Apnea andasystolecanoccur(severecase).Prolongduration,butwithoutresidualneurodeficit,someofcase- fronto-parietalopercular (25%mayautonomicSE),infrequent
Tests:Genetic unknowngene,complex(reportinsibling)
Panayiotopoulossyndrome
EEG
IEDs::MultifocalSPK/SW90%NormalsingleEEG10%Occipitalspikes 60%ofpatientsLowvoltageSPKandGend/cminorityofcases.
Activation:Eyeclosure(eliminationofcentralvisionandfixationoffsensitivity)mayactivateoccipitalspikes.EEGabnormalityisenhancedbysleepdeprivationandbysleepIctal:Unilateral,oftenposterioronset,withrhythmicslow(thetaordelta)activityintermixedwithsmallspikes
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Panayiotopoulossyndrome
PS:EEGOccipitalSpikes
Panayiotopoulossyndrome
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Lateonsetchildhoodoccipitalepilepsy(Gastaut type)Ageofonset 5months-19years(peak8-9years)
Seizuretype
Seizureswithvisualauraoccurfromawakestates,brief(typicalseconds,most<3minutes,rarelyupto20minutesVisualaura;multi-coloredcirclesinperipheralvisionincreasedinvolvedandmovinghorizontallytotheotherside,thesemaybefollowedbydeviationofeyesorheadturning(ipsilateral)May Otheroccipitalfeatures;ictalblindness,complexvisualhallucinations,visualillusions,orbitalpain,eyelidflutteringorrepetitiveeyeclosure,ictalheadacheorN/VMay spreadoutsidetheoccipitallobe resultinginhemiparesthesia,dyscognitivefeatures,hemiclonic
Lateonsetchildhoodoccipitalepilepsy(Gastaut type)
EEG
IEDs:Occipitalspikes orSW (may)onlyduringsleep,20%ofcasesmayco-existwithCT,frontalorGSW,BGnormalActivation:bysleepdeprivationandbysleep,20-90%ofcases–inducedbyfixation-offsensitivity(eliminationofcentralvision)Ictal: duringoculo-clonic seizureorictalblindness:BGactivityreductionandthenoccipitalfasterrhythmswithspikesoflowamplitude,thesemaybeslowerSW
Tests:Genetic Unknown
Prognosis Self-limitingEasilycontrolled(50-60%remissionin2-4yearsafteronset)90%dramaticresponsetocarbamazepine
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SummaryofIGE
IGE CAE JAE JME GTCSA
Age onset childhood Juvenile Juvenile Juvenile
Seizuretype Absence AbsenceGTCs
MyoclonicGTCs,Absence
GTCs
EEG 3HzGSW 3-6Hz GSW 3.5-6Hz GSW GSW/PSW
SummaryofSFE
SFE PS BECTS COE-G
Age onset Infantile1-14(3-6)yrs
Childhood Childhood
Seizuretype Autonomic(Emetic)
Perisylvian Occipital
EEG Multifocal 90%Occipital60%
Centrotemporal Occipital