ND29035

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

parent/child concordant pair

Family Type

NUCLEAR FAMILIES - MORE THAN ONE AFFECTED

Ethnicity

Hispanic/Latino

Country of Origin

USA

Family Member

Family History

Relation to Proband

mother

Species

Homo sapiens

Common Name

Human

Note

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

Phenotypic Data

Demographic Data

Relation to Proband

mother

Age at Sampling

26 YR

Gender

Female

Age of Onset(If not a control)

1 YR

Age at Diagnosis(If not a control)

1 YR

Hispanic or Latino/Not Hispanic or Latino

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: DAUGHTER - PROBAND ND29034

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: DAUGHTER - PROBAND ND29034

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

Focal dyscognitive

yes no

Focal evolving to generalized convulsion

yes no

Generalized - typical absence

yes no

Generalized - atypical absence

yes no

Myoclonic

yes no

Clonic

yes no

Tonic

yes no

Tonic-Clonic

yes no

Atonic

yes no

Infantile spasms

yes no

Unclassifiable seizure type

yes no

Status epilepticus

yes no

Simple febrile seizure

yes no

Complex febrile seizure

yes no

Prolonged febrile seizure

yes no

Etiology

Febrile

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

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

Yes No

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

Yes No

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

Yes No

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

Yes No

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

Yes No

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

not done

Generalized spike and wave

No Data

Focal spikes

No Data

Nonepileptiform abnormalities focal slowing

No Data

Imaging

normal abnormal not done

Smoking History

smoking history

never former smoker current smoker

years smoking

Miscellaneous

Neurological examination

yes no

Handedness

Right Left Ambidextrous

State Examination (MMSE) score

30 IN 2010

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:

Female

Age:

26 YR (At Sampling)

Overview

Phenotypic Data

External Links

Culture Protocols