ND03825

Coriell Institute for Medical Research

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ND03825 LCL from B-Lymphocyte

Description:

EPILEPSY
EPILEPSY, GENERALIZED: CAUCASIAN

Affected:

Yes

Gender:

Male

Age:

13 YR (At Sampling)

Overview
Phenotypic Data
External Links
Images
Culture Protocols

Overview

Repository

NINDS Repository

Subcollection

Epilepsy

Biopsy Source

Peripheral vein

Cell Type

B-Lymphocyte

Tissue Type

Blood

Transformant

Epstein-Barr Virus

Sample Source

LCL from B-Lymphocyte

Race

White

Subject Type

trio

Family Type

NUCLEAR FAMILIES - ONE AFFECTED

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Species

Homo sapiens

Common Name

Human

Phenotypic Data

Demographic Data

Relation to Proband

proband

Age at Sampling

13 YR

Gender

Male

Age of Onset(If not a control)

8 YR

Age at Diagnosis(If not a control)

No Data

Hispanic or Latino/Not Hispanic or Latino

not yet reported

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: DISTANT MATERNAL COUSIN

Family history of other paroxysmal disorder: Migraine

present absent unknown
Notes: PATERNAL COUSIN

Family history of other paroxysmal disorder: Dystonia

present absent unknown

Other family members of this person in NINDS repository

yes no
Notes: ND03826, ND03827

Genetic Data of Subject

Known genetic syndrome

No Data

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

No Data

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

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

Notes: CHILDHOOD ABSENCE EPILEPSY

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

epileptiform abnormalities

Generalized spike and wave

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

Focal spikes

No Data

Nonepileptiform abnormalities focal slowing

No Data

Imaging

normal abnormal not done

Smoking History

smoking history

No Data

years smoking

No Data

Miscellaneous

Neurological examination

No Data

Handedness

No Data

External Links

dbSNP

dbSNP ID: 21223

Gene Cards

EGI

NCBI GTR

600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG

OMIM

600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG

Omim Description

EPILEPSY, GENERALIZED, IDIOPATHIC; EGI

Images

View

pedigree

Culture Protocols

Temperature

37 C

Percent CO2

Medium

Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent

Serum

15% fetal bovine serum Not Inactivated

Substrate

None specified

Subcultivation Method

dilution - add fresh medium

Supplement

Pricing

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Academic &
Non-profit:

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Description:

EPILEPSY EPILEPSY, GENERALIZED: CAUCASIAN

Affected:

Yes

Gender:

Male

Age:

13 YR (At Sampling)

Overview

Phenotypic Data

External Links

Images

Culture Protocols

EPILEPSY
EPILEPSY, GENERALIZED: CAUCASIAN