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1 EGI Clinical Data Collection Form Cover Page Please find enclosed the EGI Clinical Data Form for my patient. This form was completed by: On (date): _ Page 1 of 14
2 EGI Clinical Data Form Patient Name: Date of Birth: First Middle Last Current Age: MM/DD/YYYY Gender: Male Female Child Mother Father Select One Hispanic or Latino: Yes No Ashkenazi Jewish: Yes No Race (select all that apply): African American/Black Asian Caucasian/White Native American/Alaskan Native Native Hawaiian/Pacific Islander Other Physician who ordered Clinical/Research Sequencing: Name Phone Fax Lab of Clinical/Research Sequencing: Lab Name Country State/Province Phone (if known) Page 2 of 14
3 Family History Family History of Epilepsy: Yes No Unknown Number of 1 st Degree Relatives Affected (specify numbers below): Mother Father Brother(s) Sister(s) Additional Relatives with Epilepsy: Yes No Unknown If yes, details: Family History of Congenital Abnormality, chromosomal abnormality, movement disorder, or intellectual disability: Yes No Unknown If yes, details: Number of Relatives Specify Relationship(s) Describe Abnormality Family history of other known or suspected Genetic Condition: Yes No Unknown If yes, details: Number of Relatives Specify Relationship(s) Describe Abnormality Family history of consanguinity*: Yes No Unknown Page 3 of 14
4 *Are the parents related by blood? Page 4 of 14
5 Birth and Neonatal History Gestational Age at Birth Birth Weight Head (if known) Neonatal Seizures Yes No Unknown Evidence of Neonatal Encephalopathy Yes No Unknown Epilepsy History CNS Infection: Yes No Unknown Head Trauma w/skull fracture, intracranial bleeding or loss of consciousness longer than 15 minutes: Yes No Unknown Febrile Seizures Yes No Unknown Suspicion for autoimmune epilepsy Yes No Unknown Age at first unprovoked seizure Years Months Page 5 of 14
6 Seizure types (choose all that apply): Infantile/epileptic spasms Tonic Atonic Myoclonic Typical absence Atypical absence Generalized tonic clonic (GTC) Focal seizures Unclassified Status Epilepticus: Convulsive Non-convulsive Other: Unknown EEG Results (choose all that apply over the patient s course): Classic hypsarrhythmia Hypsarrhythmia variant Generalized spike-wave Generalized paroxysmal fast activity (GPFA) Slow or disorganized for age Focal or multi-focal sharp waves Normal Other: Unknown Page 6 of 14
7 Neuro-imaging: MRI Yes Neuro-imaging results (Select all that apply): Normal No CT Yes No Malformations: Focal Cortical Dysplasia Heterotopia Per-ventircular nodular heterotopia Polymicrogyria Pachygyria Hemimegalencephaly Schizencephaly Lissencephaly Double cortex Holoprosencephaly Corpus callosum agenesis/dysplasia Septo-optic dysplasia Other: Neurocutaneous syndrome: Tuberous sclerosis complex Sturge-Weber syndrome Other: Vascular and/or ischemic abnormalities: Hypoxic ischemic injury Periventricular leukomalacia Intraventricular hemorrhage Page 7 of 14
8 Arterial infrarction Page 8 of 14
9 Vascular and/or ischemic abnormalities (cont d) Watershed infarction Venous infarction Intraparenchymal hemorrhage Vascular malformation Vasculitis Other: Trauma: Subdural hematoma Epidural hematoma Cerebral contusion Penetrating head trauma Other: Tumor: Glioma Other glial tumor Dysembryoplastic neuroepithelial tumor Other: Other: Porencephaly Hydrocephalus Atrophy Other: Unknown Page 9 of 14
10 Development / Cognition Delay prior to seizure onset: Yes No Unknown Type of Delay: Gross motor Fine motor Language Personal-social Global Intellectual disability Mild Moderate Severe Profound Cannot classify Learning difference Regression or plateau: Yes No Unknown IQ or DQ (score, if available): Unknown Autism spectrum disorder: Yes No Unknown Page 10 of
11 Other Features Yes No Unknown If yes, specify below: Microcephaly Yes No Unknown If yes, list head circumference and age measured: No head circumference and age measured: Macrocephaly Yes Unknown If yes, list Abnormal Tone / Hypotonia Yes No Unknown Abnormal Tone / Spasticity Yes No Unknown Weakness Yes No Unknown Movement Disorder Yes No Unknown Cerebellar Abnormality Yes No Unknown Autonomic Abnormality Yes No Unknown Psychiatric Abnormality Yes No Unknown Vision Abnormality Yes No Unknown Hearing Abnormality Yes No Unknown Dysmorphic Yes No Unknown Constitutional Abnormality Yes No Unknown Cutaneous Abnormality Yes No Unknown Cardiac Abnormality Yes No Unknown Renal Abnormality Yes No Unknown Endocrine Abnormality Yes No Unknown Cancer Diagnosis Yes No Unknown Abnormality of other organs Yes No Unknown Page 11 of
12 Describe any abnormalities here: Abnormal Genetic or Metabolic Testing Abnormal genetic or metabolic testing: Yes No Unknown No other testing done Describe any abnormalities here: Karyotype: Yes No Unknown Describe any abnormalities here: Page 10 of 14
13 Epilepsy Classification, Syndrome, Etiology and Outcome: Adequate information to classify epilepsy syndrome: Yes No Select Syndrome (if applicable): Neonatal onset Self-limited (benign) familial neonatal epilepsy (BFNE) Self-limited (benign) neonatal seizures (BNS) Ohtahara syndrome Early myoclonic encephalopathy (EME) Developmental delay, epilepsy and neonatal diabetes (DEND) Hyperekplexia Usually onset less than age 2 years Febrile seizures (FS) Febrile seizures Plus (FS+) Self-limited (benign) infantile epilepsy Self-limited (benign) familial infantile epilepsy Self-limited (benign) familial neonatal-infantile seizures (BFNIS) Dravet syndrome West syndrome/infantile spasms Epilepsy of infancy with migrating focal seizures Myoclonic epilepsy in infancy (MEI) Early onset epileptic encephalopathy (< 3 months) Infantile onset epileptic encephalopathy (not fitting into specific syndrome above) Usually onset older than age 2 years Febrile seizures (FS) Febrile seizures (FS) Plus+ Self-limited (benign) epilepsy with centrotemporal spikes (BECTS) Page 11 of 14
14 Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE with HS) Early onset childhood occipital epilepsy (Panayiotopoulos type) Late onset childhood occipital epilepsy (Gastaut type) Autosomal-dominant nocturnal frontal lobe epilepsy (ADNFLE) Familial focal epilepsy with variable foci (FFEVF) Childhood absence epilepsy (CAE) Absence seizures with eyelid myoclonias (Jeavons syndrome) Epilepsy with myoclonic absences Lennox-Gastaut syndrome Epilepsy with myoclonic atonic (previously astatic) seizures Landau-Kleffner syndrome (LKS) Epileptic encephalopathy with continuous spike-and-wave during sleep (CSWS) Febrile Infection Related Epilepsy Syndrome (FIRES) Rasmussen syndrome Gelastic seizures with hypothalamic hamartoma Hemiconvulsion-Hemiplegia-Epilepsy Late-onset epileptic spasms Reflex epilepsies Usually adolescent to adult onset Juvenile Absence Epilepsy Juvenile Myoclonic Epilepsy Epilepsy with Generalized Tonic Clonic Seizures Alone (previously on Awakening) Mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE with HS) Page 12 of 14
15 Autosomal-dominant nocturnal frontal lobe epilepsy (ADNFLE) Familial focal epilepsy with variable foci (childhood to adult) (FFEVF) Autosomal dominant epilepsy with auditory features (ADEAF) Familial temporal lobe epilepsy Rasmussen syndrome late onset Gelastic seizures with hypothalamic hamartoma Febrile Infection Related Epilepsy Syndrome (FIRES) Late-onset epileptic spasms Reflex epilepsies If no syndrome present: Nonsyndromic epilepsy With focal seizures With generalized seizures With mixed or unclassified seizures Current seizure outcome: Persistent seizures Seizure free Current number of anti-seizure treatments* *Include each anti-seizure medication, specific dietary therapy and VNS as 1 treatment Page 13 of 14
16 Is patient or trio included in any other databases/studies? (e.g. EPGP, Epi4K, PERC, REN, CPEN, Seizure Tracker, etc.). If so, explain: _ Has the patient had an extreme response to any anti-seizure treatment (e.g. complete seizure cessation, life-threatening rash, etc.)? If so, explain: Page 14 of 14
EGI Clinical Data Collection Form Cover Page
EGI Clinical Data Collection Form Cover Page Please find enclosed the EGI Clinical Data Form for my patient. This form was completed by: On (date): Page 1 of 15 Patient Name: Date of Birth: MM/DD/YYYY
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