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ND21631 DNA from LCL

Description:

EPILEPSY
EPILEPSY, FOCAL: CAUCASIAN

Affected:

Yes

Sex:

Female

Age:

44 YR (At Sampling)

  • Overview
  • Phenotypic Data
  • External Links

Overview

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Repository NINDS Repository
Subcollection Epilepsy
Quantity 20 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family History N
Species Homo sapiens
Common Name Human

Phenotypic Data

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Demographic Data
Relation to Proband No Data
Age at Sampling 44 YR
Sex Female
Age of Onset(If not a control) 16 YR
Age at Diagnosis(If not a control) 16 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) 
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) 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
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
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  No Data
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 never  former smoker   current smoker 
years smoking  10
Miscellaneous
Neurological examination yes   no 
Handedness Right   Left  Ambidextrous 
State Examination (MMSE) score  No Data

External Links

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Gene Cards EGI
NCBI GTR 600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG
OMIM 600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG
Omim Description EPILEPSY, GENERALIZED, IDIOPATHIC; EGI

Culture Protocols

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Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
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 and Non-U.S.:
$0.00USD
U.S. Academic or
Non-profit:
$0.00USD
NINDS Repository Submitter (past or current) and/or Current NINDS Grantee
$0.00USD
Add to Cart
How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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  • ND21631 - B-Lymphocyte
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  • NDPT109

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