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ND10992 DNA from LCL

Description:

EPILEPSY

Affected:

Yes

Sex:

Male

Age:

14 MO (At Sampling)

  • Overview
  • Phenotypic Data
  • External Links
  • Images

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 LCL from B-Lymphocyte
Race White
Subject Type trio
Family Type NUCLEAR FAMILIES - MORE THAN ONE AFFECTED
Ethnicity Hispanic/Latino
Country of Origin USA
Family Member 1
Family History Y
Relation to Proband proband
Species Homo sapiens
Common Name Human

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 14 MO
Sex Male
Age of Onset(If not a control) 12 MO
Age at Diagnosis(If not a control) No Data
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: ND38123 MOTHER, MATERNAL GREAT-GRANDMOTHER
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: FATHER (ND10796), ND38123 MOTHER
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
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

Notes: FEBRILE
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  normal
Generalized spike and wave  No Data
Focal spikes  No Data
Nonepileptiform abnormalities focal slowing  No Data
Imaging normal  abnormal   not done 
Notes: MIGRATIONAL ABNORMALITY AT LEFT OCCIPITAL LOBE
Smoking History
smoking history never   former smoker  current smoker 
years smoking  No Data
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

Images

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View pedigree 

Culture Protocols

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Split Ratio (Frequency) 1:2 (4 Days)
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
Related Products
Same Subject
  • ND10992 - B-Lymphocyte
Same Family
  • NINDS1027

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