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ND00380 LCL from B-Lymphocyte

Description:

EPILEPSY
EPILEPSY, FOCAL: CAUCASIAN

Affected:

Yes

Sex:

Male

Age:

53 YR (At Sampling)

  • Overview
  • Phenotypic Data
  • External Links
  • Culture Protocols

Overview

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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
Country of Origin USA
Family History Y
Species Homo sapiens
Common Name Human

Phenotypic Data

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Demographic Data
Relation to Proband No Data
Age at Sampling 53 YR
Sex Male
Age of Onset(If not a control) 22 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: MOTHER'S SISTER TYPE UNKNOWN
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
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: TEMPORAL LOBE 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  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  No Data
years smoking  No Data
Miscellaneous
Neurological examination  No Data
Handedness  No Data

External Links

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dbSNP dbSNP ID: 15771
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%
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
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