HPO (HUMAN PHENOTYPE ONTOLOGY) QUESTIONNAIRE OF CLINICAL CHARACTERISTICS OF THE PATIENT WITH EPILEPSY

HP:0002069HP:0011147HP:0007270HP:0011148HP:0011149HP:0010818HP:0010819HP:0002123HP:0006813HP:0011170HP:0011175HP:0010820HP:0010821HP:0002349HP:0002384HP:0007334HP:0011157HP:0011153HP:0011154HP:0011174HP:0011173HP:0011097HP:0002133HP:0002373HP:0011171HP:0011172HP:0007207

SEIZURE SEMIOLOGY Generalized tonic-clonic seizuresTypical absence seizuresAtypical absence seizuresAbsence seizures with special features Absence seizures with eyelid myocloniaGeneralized tonic seizuresAtonic seizuresGeneralized myoclonic seizuresHemiclonic seizuresMyoclonic atonic seizuresVersive seizuresDacrystic seizuresGelastic seizuresSimple partial seizuresComplex partial seizuresPartial seizures with secondary generalizationAurasFocal motor seizuresFocal autonomic seizuresHyperkinetic seizuresHypokinetic seizuresEpileptic spasmsStatus epilepticusFebrile seizuresSimple febrile seizuresComplex febrile seizuresPhotosensitive tonic-clonic seizures

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Neurogenetics Section / Neuropediatrics Department INGEMM - Hospital Universitario La Paz

Gender (F/M): Ethnic group:

Phone:

HP:0007193 Generalized tonic-clonic seizures on awakening Describe other type of seizures or stimulus for seizures not annotated above:

SEIZURE-INDUCING FACTORS Sleep onsetDuring sleepAwakening from sleepSound stimulusLight stimulusTactile stimulusPatternsFeverEnvironmental heat/Warm bathEnvironmental cold/Cold bathOther stimuli:

ELECTROPHYSIOLOGY Normal interictal EEGEEG with photoparoxysmal responseEEG with focal epileptiform dischargesEEG with generalized epileptiform discharges Focal EEG discharges with propagation to ipsilateral hemisphereFocal EEG discharges with secondary generalizationMultifocal epileptiform dischargesHemihypsarrhythmiaHypsarrhythmiaEEG with temporal focal spike wavesEEG with centrotemporal focal spike wavesEEG with occipital focal spike wavesEEG with frontal focal spike wavesEEG with parietal focal spike wavesEEG with central focal spike wavesEEG with spike-wave complexesEEG with spike-wave complexes (<2.5 Hz)EEG with spike-wave complexes (2.5-3.5 Hz)EEG with spike-wave complexes (>3.5 Hz)EEG with hyperventilation-induced epileptiform dischargesEEG with burst suppressionEEG with generalized polyspikesEEG with generalized polymorphic epileptiform dischargesPolymorphic focal epileptiform dischargesEEG with generalized slow activity

HP:0002372HP:0010852HP:0011185HP:0011198HP:0011187

HP:0011188HP:0010841HP:0011215HP:0002521HP:0012013HP:0012557HP:0012011HP:0012010HP:0012012HP:0012009HP:0010850HP:0010847HP:0010848HP:0010849HP:0010858

HP:0010851HP:0012001HP:0011200

HP:0011192HP:0010845Describe other electrophysiological features not annotated above:

Name and Surname: Date of birth (dd/mm/yyyy):Age at first seizure (m/y): Presumptive diagnosis:Name and Surname of Physician: email:Reference hospital:Address:

Neurogenetics Section / Neuropediatrics Department INGEMM - Hospital Universitario La Paz

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NEUROIMAGE FINDINGS HP:0100006HP:0002435HP:0002475HP:0002084HP:0010576HP:0002190 HP:0012444 HP:0000238 HP:0002119 HP:0002410 HP:0002198 HP:0001305 HP:0001272 HP:0001320 HP:0002308 HP:0009716 HP:0009731 HP:0009717 HP:0002188 HP:0002545

HP:0002415 HP:0002282 HP:0002126 HP:0001339 HP:0010636 HP:0007206 HP:0001331 HP:0002389 HP:0007370 HP:0002539

Neoplasm of the central nervous systemMeningoceleMyelomeningoceleEncephaloceleIntracranial cystic lesionChoroid plexus cystBrain atrophyHydrocephalusVentriculomegalyAqueductal stenosisDilated fourth ventricleDandy-Walker malformationCerebellar atrophyCerebellar vermis hypoplasiaArnold-Chiari malformationSubependymal nodulesCerebral hamartomataCortical tubersDelayed CNS myelinationPatchy demyelination of subcortical white matterLeukodystrophyHeterotopiaPolymicrogyriaLissencephalySchizencephalyHemimegalencephalyAbsent septum pellucidumCavum septum pellucidumAplasia/Hypoplasia of the corpus callosumCortical dysplasia

DEVELOPMENT AND PSYCHE

Describe other CNS image findings not annotated above:

HP:0001263HP:0001270HP:0001249HP:0000726HP:0002344HP:0002376HP:0000750HP:0000733HP:0000717HP:0002360HP:0000718HP:0000716HP:0000752HP:0000736HP:0000752

Global developmental delayMotor delayIntellectual disabilityDementiaProgressive neurologic deterioration Developmental regressionDelayed speech and language development SterotypyAutismSleep disturbanceAggressive behaviorDepressionHyperactivityShort attention spanHyperactivity

Describe other neurodevelopmental or psychological alterations:

NEUROLOGY ALTERATIONS HP:0001251HP:0001310HP:0002075HP:0002403HP:0002321HP:0010553HP:0002174HP:0002080HP:0002072HP:0100248HP:0002305HP:0001266HP:0002186HP:0010524HP:0010528HP:0030222HP:0002381HP:0010534HP:0010529HP:0001260HP:0002015HP:0002076HP:0000709HP:0011165HP:0002367HP:0100704HP:0002459HP:0000742Describe other neuropathological features not annotated above:

NEUROMUSCULAR ALTERATIONS HP:0001332HP:0100660HP:0001336HP:0001252HP:0001276HP:0001257HP:0003487HP:0001264HP:0004374HP:0030182HP:0001347HP:0001284HP:0002169HP:0007024HP:0001291HP:0009830HP:0003236HP:0003701HP:0002460HP:0002486HP:0003202HP:0003712HP:0010546HP:0010831HP:0002495HP:0007328HP:0010829HP:0010830Describe other neuromuscular alterations:

AtaxiaDysmetria Dysdiadochokinesis Positive Romberg sign VertigoOculogyric crisisPostural tremorIntention tremorChoreaHemiballismusAthetosisChoreoathetosisApraxiaAgnosiaProsopagnosiaVisual agnosiaAphasiaTransient global amnesia EcholaliaDysarthriaDysphagia Migraine Psychosis Visual aurasVisual hallucinations Cortical visual impairment Autonomic dysfunctionSelf-mutilation

OTHER FINDINGS:

DystoniaDyskinesiaMyoclonusMuscular hypotoniaHypertoniaSpasticityBabinski signSpastic diplegiaHemiplegia/hemiparesisTetraplegia/TetraparesiaHyperreflexiaAreflexiaClonusPseudobulbar paralysisAbnormality of cranial nervesPeripheral neuropathyElevated serum creatine phosphokinase Proximal muscle weaknessDistal muscle weaknessMyotoniaMuscle atrophyMuscle hypertrophyMuscular fibrillationImpaired proprioceptionImpaired vibratory senseImpaired pain sensationImpaired temperature sensationImpaired tactile sensation

Metabolic alterations:

Muscular biopsy alterations:

Neurogenetics Section / Neuropediatrics Department INGEMM - Hospital Universitario La Paz

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ASSOCIATED CLINICAL FEATURES: ORL

HP:0000407HP:0000360HP:0010780HP:0008771HP:0001612HP:0200046

Sensorineural hearing impairment TinnitusHyperacusisAplasia/Hypoplasia of the ear Weak cryCat cry

Others:

DERMATOLOGY HP:0003764HP:0000995HP:0005600HP:0007544HP:0001053HP:0000997HP:0000957HP:0001057HP:0000974HP:0000294HP:0002209

NevusMelanocytic nevusCongenital giant melanocytic nevus PiebaldismHypopigmented skin patches��Axillary freckling��Cafe-au-lait spot�Aplasia cutis congenitaHyperextensible skin�Low anterior hairline�Sparse scalp hair

Ot �hers:

MUSCULAR AND SKELETAL SYSTEMS HP:0001382HP:0001059HP:0004439HP:0000325HP:0004484HP:0004673HP:0000252HP:0000256HP:0001357HP:0001363HP:0040079HP:0004322

�Joint hypermobility�Pterygium�Craniofacial dysostosis �Triangular face�Craniofacial asymmetry �Decreased facial expression MicrocephalyMacrocephaly�Plagiocephaly�Craniosynostosis�Irregular dentition��Short stature

Ot �hers:

OCULAR HP:0009737HP:0000589HP:0008499HP:0011003HP:0000486HP:0000649HP:0007687HP:0001488HP:0000286HP:0000494HP:0000582HP:0000605HP:0000602HP:0010544HP:0000666HP:0010543HP:0000618HP:0000518Ot �hers:

OTHER PATHOLOGIES Renal disease:

�Haematologic disease:

�Hepatic disease:

Respiratory disease:

�Immunological disorder:

Heart disease:

�Endocrine pathology:

�Gastrointestinal pathology:

�Lisch nodules�Coloboma �High-grade hypermetropia�Severe myopia �StrabismusAbnormality of visual evoked potentials Unilateral ptosis�Bilateral ptosis�Epicanthus�Downslanted palpebral fissures��Upslanted palpebral fissureSupranuclear gaze palsyOphthalmoplegiaVertical nystagmusHorizontal nystagmusOpsoclonusBlindnessCataract

Neurogenetics Section / Neuropediatrics Department INGEMM - Hospital Universitario La Paz

4 / 6 The information of both patient and physician will be administered by the INGEMM following the Constitutional Personal Data Protection law 15/1999.

FAMILY HISTORY�Describe clinical family history of convulsions or other features of interest in first and second-degree relatives. Attach pedigree if necessary.�

AEDs HISTORYList of AEDs treatment received in monotherapy or polytherapy, including current treatment.

AEDstreatment

MonotherapyPolytherapy

1

Describe other treatments or responses:

Neurogenetics Section / Neuropediatrics Department INGEMM - Hospital Universitario La Paz

PHARMACOLOGICAL QUESTIONNAIRE OF PATIENT WITH EPILEPSY

Describe AEDs treatment of patient according the following data: Drugs: Dose: Response:

Adverse effects: Duration of treatment:

Drug name (acronym)mg/kg/day or mg/kg at Morning (mm)/Afternoon (aa)/Night (nn) CC - Complete control of seizuresPC - Partial control of seizuresWS - Worsening of seizuresNR - No responseDescription of the adverse effects of the treatmentStart date/End date

Duration of treatment

Drug/s(acronym)

Dose (mg/kg/day) (mg/kg mm/aa/nn)

Response to treatment

Adverse effects

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MonotherapyPolytherapy

2

MonotherapyPolytherapy

3

MonotherapyPolytherapy

4

MonotherapyPolytherapy

5

MonotherapyPolytherapy

6

MonotherapyPolytherapy

7

MonotherapyPolytherapy

8

Other drugs or treatments not annotated above:

Acronym Generic drug name Brand drug name

AZMBRCBZCLBCLNESLESXFBMGBPKDLCMLTGLEVNTZOXZPRPPBTPHTPCPGBPRMRTGRFNSTPTGBTPMVPA

VGBZNS

Diamox-Carbagen, Carbatol, Epitol, Equetro, TegretolFrisium, Noiafren, Onfi, Tapclob, UrbanylKlonipin, RivotrilZebinixEtosuximida, Emeside, Ethymal, Petinimid, Petnidan, ZarontinFelbatol, TaloxaGralise, Neurontin-VimpatLamictal, PlexxoKeppra, DesitrendMogadonOxtellar, TrileptalFycompaLuminal, LuminaletasDilantin, Epanutin, SinerginaNootropilLyricaMysolinePotiga, TrobaltInovelonDiacomitGabitrilTopamaxDepakine, Depakene, Depakote, Convulex, Epilim, Episenta,Epival, Orfiril, Sodium valproateSabril, SabrilexZonegran

AcetazolamideBromide Carbamazepine ClobazamClonazepamEslicarbazepine acetateEthosuximide FelbamateGabapentinKetogenic dietLacosamideLamotrigineLevetiracetamNitrazepamOxcarbazepinePerampanelPhenobarbitalPhenytoinPiracetamPregabalinPrimidoneRetigabineRufinamideStiripentolTiagabineTopiramateValproic acid

VigabatrinZonisamide

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Neurogenetics Section / Neuropediatrics Department INGEMM - Hospital Universitario La Paz

ANNEX List of antiepileptic drugs (AEDs) most commonly administered to patients with epilepsy.