EPICURE Phenotype Documentation: IGE traits

FAMILY_ID: ......

ETHNIC ORIGIN: ......

SPORADIC  FAMILIAL Number of IGE-affected 10-relatives: ____

PEDIGREE

Indicate individual code, epilepsy syndromes and EEG findings.

INDIVIDUAL_ID: Year of Birth SEX EEG Blood

______

____ ...... ______M/F Y/N Y/N

____ ...... ______M/F Y/N Y/N

____ ...... ______M/F Y/N Y/N

____ ...... ______M/F Y/N Y/N

____ ...... ______M/F Y/N Y/N

____ ...... ______M/F Y/N Y/N

____ ...... ______M/F Y/N Y/N

____ ...... ______M/F Y/N Y/N

____ ...... ______M/F Y/N Y/N

____ ...... ______M/F Y/N Y/N

____ ...... ______M/F Y/N Y/N

____ ...... ______M/F Y/N Y/N

____ ...... ______M/F Y/N Y/N


InVestigator_ID: ______Date: ______

FAMILY ID: ______Ind_ID: ______......

SOURCE of INFORMATION:  Interview  Relatives  Medical file

______

Please tick appropriate answer (X)

SEIZURES  YES  NO

GENERALIZED SEIZURES AGE AT ONSET (yrs)

 Absence, typical ______

Frequency of absences:  Pyknoleptic  Non-pyknoleptic  Unknown

 Myoclonic ______

 Tonic-clonic (GTCS) ______

Number of GTCS: ......

Diurnal pattern of GTCS:  Awakening  Sleep  Random  Unknown

OTHER SEIZURE TYPES:  NO  YES AGE AT ONSET (yrs)

Specify: ...... ______

...... ______

FEBRILE SEIZURES (FS):  YES  NO if present, use dataform for FS

EPILEPSY SYNDROME(s): RELIABILITY:  High  Low

1......

2......

ETIOLOGY:  Idiopathic  Symptomatic, specify: ......

MENTAL RETARDATION:  No  Yes

CCT/MRI:  Normal  Pathological, specify: ......

NEUROLOGICAL EXAMINATION

 Normal  Diffuse pathological  Local pathological

PHARMACORESPONSE

Best antiepileptic medication: ......

 Seizure-free  Occasional seizures  Less seizures  Pharmacoresistant

EEG (synoptic information of all available EEG examinations)

 Normal

Bilateral synchronous epileptiform

(don't rate if occurring exclusively with photostimulation)

 Spike waves (2.5-5 Hz)  Poly spike waves

Localized epileptiform

 Frontal  Parietal  Temporal  Occipital

SEIZURE PRECIPITATING FACTORS:  Missing data

 Photosensitivity: PPR-Type (I-IV): _____ (use dataform for PPR-traits)

 Visually induced seizure; specify: ...... ; Number: ....

 Paroxysmal exercise-induced dystonia(PED):

 Dysgraphia (writer`s cramp)  Perioral myoclonia

 Other precipitating factors, specify trigger: ......

 Migraine  Aura; specify: ......

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