ND04080

Coriell Institute for Medical Research

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ND04080 LCL from B-Lymphocyte

Description:

EPILEPSY
EPILEPSY, FOCAL: CAUCASIAN

Affected:

Yes

Gender:

Male

Age:

45 YR (At Sampling)

Overview
Phenotypic Data
External Links
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

Ethnicity

Not Hispanic/Latino

Country of Origin

USA

Family History

Species

Homo sapiens

Common Name

Human

Phenotypic Data

Demographic Data

Relation to Proband

No Data

Age at Sampling

45 YR

Gender

Male

Age of Onset(If not a control)

2 YR

Age at Diagnosis(If not a control)

No Data

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)

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

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

Cryptogenic

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: TLE

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

both abnormalities

Generalized spike and wave

No Data

Focal spikes

Temporal Extra temporal Multifocal Unspecified

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: 17312

Gene Cards

EGI

NCBI GTR

600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG

OMIM

600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG

Omim Description

EPILEPSY, GENERALIZED, IDIOPATHIC; EGI

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

Commercial:

$0.00USD

Academic &
Non-profit:

$0.00USD

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How to Order

Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form

Description:

EPILEPSY EPILEPSY, FOCAL: CAUCASIAN

Affected:

Yes

Gender:

Male

Age:

45 YR (At Sampling)

Overview

Phenotypic Data

External Links

Culture Protocols

EPILEPSY
EPILEPSY, FOCAL: CAUCASIAN