EPILEPSY HPO QUESTIONNAIREPiracetam Pregabalin Primidone Retigabine Rufinamide Stiripentol Tiagabine...
6
HPO (HUMAN PHENOTYPE ONTOLOGY) QUESTIONNAIRE OF CLINICAL CHARACTERISTICS OF THE PATIENT WITH EPILEPSY HP:0002069 HP:0011147 HP:0007270 HP:0011148 HP:0011149 HP:0010818 HP:0010819 HP:0002123 HP:0006813 HP:0011170 HP:0011175 HP:0010820 HP:0010821 HP:0002349 HP:0002384 HP:0007334 HP:0011157 HP:0011153 HP:0011154 HP:0011174 HP:0011173 HP:0011097 HP:0002133 HP:0002373 HP:0011171 HP:0011172 HP:0007207 SEIZURE SEMIOLOGY Generalized tonic-clonic seizures Typical absence seizures Atypical absence seizures Absence seizures with special features Absence seizures with eyelid myoclonia Generalized tonic seizures Atonic seizures Generalized myoclonic seizures Hemiclonic seizures Myoclonic atonic seizures Versive seizures Dacrystic seizures Gelastic seizures Simple partial seizures Complex partial seizures Partial seizures with secondary generalization Auras Focal motor seizures Focal autonomic seizures Hyperkinetic seizures Hypokinetic seizures Epileptic spasms Status epilepticus Febrile seizures Simple febrile seizures Complex febrile seizures Photosensitive tonic-clonic seizures 1 / 6 The information of both patient and physician will be administered by the INGEMM following the Constitutional Personal Data Protection law 15/1999. 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 onset During sleep Awakening from sleep Sound stimulus Light stimulus Tactile stimulus Patterns Fever Environmental heat/Warm bath Environmental cold/Cold bath Other stimuli: ELECTROPHYSIOLOGY Normal interictal EEG EEG with photoparoxysmal response EEG with focal epileptiform discharges EEG with generalized epileptiform discharges Focal EEG discharges with propagation to ipsilateral hemisphere Focal EEG discharges with secondary generalization Multifocal epileptiform discharges Hemihypsarrhythmia Hypsarrhythmia EEG with temporal focal spike waves EEG with centrotemporal focal spike waves EEG with occipital focal spike waves EEG with frontal focal spike waves EEG with parietal focal spike waves EEG with central focal spike waves EEG with spike-wave complexes EEG 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 discharges EEG with burst suppression EEG with generalized polyspikes EEG with generalized polymorphic epileptiform discharges Polymorphic focal epileptiform discharges EEG with generalized slow activity HP:0002372 HP:0010852 HP:0011185 HP:0011198 HP:0011187 HP:0011188 HP:0010841 HP:0011215 HP:0002521 HP:0012013 HP:0012557 HP:0012011 HP:0012010 HP:0012012 HP:0012009 HP:0010850 HP:0010847 HP:0010848 HP:0010849 HP:0010858 HP:0010851 HP:0012001 HP:0011200 HP:0011192 HP:0010845 Describe 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:
Transcript of EPILEPSY HPO QUESTIONNAIREPiracetam Pregabalin Primidone Retigabine Rufinamide Stiripentol Tiagabine...
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
1 / 6 The information of both patient and physician will be administered by the INGEMM following the Constitutional Personal Data Protection law 15/1999.
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
2 / 6 The information of both patient and physician will be administered by the INGEMM following the Constitutional Personal Data Protection law 15/1999.
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
3 / 6 The information of both patient and physician will be administered by the INGEMM following the Constitutional Personal Data Protection law 15/1999.
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
5 / 6 The information of both patient and physician will be administered by the INGEMM following the Constitutional Personal Data Protection law 15/1999.
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
6 / 6 The information of both patient and physician will be administered by the INGEMM following the Constitutional Personal Data Protection law 15/1999.
Neurogenetics Section / Neuropediatrics Department INGEMM - Hospital Universitario La Paz
ANNEX List of antiepileptic drugs (AEDs) most commonly administered to patients with epilepsy.
