Download - Idiopathic epilepsy syndromes DRAFT 2017thaiepilepsysociety.com/.../Idiopathic-epilepsy-syndromes_DRAFT1_2017.pdf · Low voltage SPK and Gen d/c minority of cases. Activation: Eye

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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)


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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BenignChildhoodEpilepsywithCentrotemporalSpikes

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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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PS:EEGOccipitalSpikes


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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