ND29273

Overview

Repository

NINDS Repository

Subcollection

Epilepsy

Quantity

3 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Sample Source

DNA from Whole Blood

Race

White

Subject Type

identical twins, concordant

Family Type

NUCLEAR FAMILIES - MORE THAN ONE AFFECTED

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family Member

Family History

Relation to Proband

sibling

Note

This material represents a finite resource (DNA from Whole Blood)

Phenotypic Data

Demographic Data

Relation to Proband

sibling

Age at Sampling

15 YR

Gender

Male

Age of Onset(If not a control)

9 YR

Age at Diagnosis(If not a control)

9 YR

Hispanic or Latino/Not Hispanic or Latino

Not Hispanic/Latino

Racial Category

White

Country

USA

Diagnosed By

No Data

Data Elements

Clinical Element Type: Epilepsy

(Baseline)

Longitudinal Data

Is this data Longitudinal (Follow-Up) Data?

yes no

Family History

Family history of epilepsy

present absent unknown (subject adopted)
Notes: ND29272(PROBAND/FRATERNAL TWIN BROTHER)

Family history of other paroxysmal disorder: Migraine

present absent unknown

Family history of other paroxysmal disorder: Dystonia

present absent unknown

Other family members of this person in NINDS repository

yes no
Notes: ND29272(PROBAND/FRATERNAL TWIN BROTHER)

Genetic Data of Subject

Known genetic syndrome

present absent unknown

Mutation/s in subject's DNA (if present, describe)

present absent unknown

Seizure Type

Focal motor /autonomic/aura

yes no Unknown

Focal dyscognitive

yes no Unknown

Focal evolving to generalized convulsion

yes no Unknown

Generalized - typical absence

yes no Unknown

Generalized - atypical absence

yes no Unknown

Myoclonic

yes no Unknown

Clonic

yes no Unknown

Tonic

yes no Unknown

Tonic-Clonic

yes no Unknown
Notes: NO FURTHER DETAILS AVAILABLE

Atonic

yes no Unknown

Infantile spasms

yes no Unknown

Unclassifiable seizure type

yes no Unknown

Status epilepticus

yes no Unknown

Simple febrile seizure

yes no Unknown

Complex febrile seizure

yes no Unknown

Prolonged febrile seizure

yes no Unknown

Etiology

Idiopathic

Specific etiology if known

Trauma
Stroke
Hypoxia
Meningitis
Encephalitis
Antenatal insult
Error in brain development (specify)
Cortical dysphasia
Mitochondrial disorder
Chromosomal disorder (specify)
Other (specify)
Unknown
Cortical Dysplasia

Seizure Disorders - Epilepsy: >2 unprovoked seizures (Age of onset, if applicable)

Yes No Unknown
Notes: 9 YEARS

Seizure Disorders - Single Unprovoked seizure (Age at occurrence, if applicable)

Yes No Unknown

Seizure Disorders - Febrile seizures (Age of onset, if applicable)

Yes No Unknown

Seizure Disorders - Status Epilepticus (Age of onset, if applicable)

Yes No Unknown

Seizure Disorders - Acute Symptomatic Seizures (Age of onset, if applicable)

Yes No Unknown

Seizure Disorders - Other (Age of onset, if applicable) (Age of onset, if applicable)

Yes No Unknown

Associated conditions

Cerebral palsy
Mental retardation
Autism
Dementia
Neurodegenerative disorder
None known
Other (specify)

Treatment

Medically refractory

yes no unknown

Surgical treatment

yes no

Tests

EEG

epileptiform abnormalities

Generalized spike and wave

<2.5Hz slow 2.5-3.5Hz >3.5Hz Unspecified

Focal spikes

Temporal Extra temporal Multifocal Unspecified

Nonepileptiform abnormalities focal slowing

Temporal Extra temporal Other (specify) Unspecified

Imaging

normal abnormal not done

Smoking History

smoking history

No Data

years smoking

No Data

Miscellaneous

Neurological examination

yes no

Handedness

No Data

State Examination (MMSE) score

No Data

External Links

Gene Cards

EGI

NCBI GTR

600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG

OMIM

600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG

Omim Description

EPILEPSY, GENERALIZED, IDIOPATHIC; EGI

Culture Protocols

Supplement

Description:

EPILEPSY

Affected:

Yes

Gender:

Male

Age:

15 YR (At Sampling)

Overview

Phenotypic Data

External Links

Culture Protocols