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ND30110 DNA from Whole Blood

Description:

EPILEPSY

Affected:

Yes

Sex:

Male

Age:

23 YR (At Sampling)

  • Overview
  • Phenotypic Data
  • External Links

Overview

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Repository NINDS Repository
Subcollection Epilepsy
Quantity 3 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Sample Source DNA from Whole Blood
Race White
Subject Type trio
Family Type NUCLEAR FAMILIES - MORE THAN ONE AFFECTED
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
Species Homo sapiens
Common Name Human
Note This material represents a finite resource (DNA from Whole Blood)

Phenotypic Data

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Demographic Data
Relation to Proband proband
Age at Sampling 23 YR
Sex Male
Age of Onset(If not a control) 17 YR
Age at Diagnosis(If not a control) 17 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) 
Notes: FATHER (ND30111)
Family history of other paroxysmal disorder: Migraine present   absent  unknown 
Notes: MOM AND MATERNAL SIDE FEMALE FAMILY MEMBERS
Family history of other paroxysmal disorder: Dystonia present  absent   unknown 
Other family members of this person in NINDS repository yes   no 
Notes: ND30111 FATHER, ND30112 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  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
Cortical Dysplasia
Seizure Disorders - Epilepsy: >2 unprovoked seizures (Age of onset, if applicable) Yes   No 
Notes: 17 YRS
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 never  former smoker  current smoker  
years smoking  1 OR 2 CIGARETTES ONCE OR TWICE A YEAR
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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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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  • NINDS3177

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