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ND38123 DNA from Whole Blood

Description:

EPILEPSY

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 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 Hispanic/Latino
Country of Origin USA
Family Member 3
Family History N
Relation to Proband mother
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 mother
Age at Sampling 44 YR
Sex Female
Age of Onset(If not a control) 2 YR
Age at Diagnosis(If not a control) 2 YR
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: ND10992 PROBAND
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: ND10992 PROBAND, ND10796 SPOUSE
Genetic Data of Subject
Known genetic syndrome present  absent   unknown 
Mutation/s in subject's DNA (if present, describe) present  absent   unknown 
Genetic Data of Familly Members
Known Genetic Syndrome present  absent   Unknown 
Known Mutation/s in DNA present  absent   Unknown 
Seizure Type
Focal motor /autonomic/aura yes  no   Unknown 
Focal dyscognitive yes  no   Unknown 
Focal evolving to generalized convulsion yes  no   Unknown 
Generalized - typical absence yes  no   Unknown 
Generalized - atypical absence yes  no   Unknown 
Myoclonic yes  no   Unknown 
Clonic yes  no   Unknown 
Tonic yes  no   Unknown 
Tonic-Clonic yes  no   Unknown 
Atonic yes  no   Unknown 
Infantile spasms yes  no   Unknown 
Unclassifiable seizure type yes  no   Unknown 
Status epilepticus yes   no  Unknown 
Notes: FEBRILE
Simple febrile seizure yes   no  Unknown 
Complex febrile seizure yes   no  Unknown 
Prolonged febrile seizure yes   no  Unknown 
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
Cortical Dysplasia

Notes: FEVER
Seizure Disorders - Epilepsy: >2 unprovoked seizures (Age of onset, if applicable) Yes  No   Unknown 
Seizure Disorders - Single Unprovoked seizure (Age at occurrence, if applicable) Yes  No   Unknown 
Seizure Disorders - Febrile seizures (Age of onset, if applicable) Yes   No  Unknown 
Notes: 2 YEARS
Seizure Disorders - Status Epilepticus (Age of onset, if applicable) Yes  No   Unknown 
Seizure Disorders - Acute Symptomatic Seizures (Age of onset, if applicable) Yes  No   Unknown 
Seizure Disorders - Other (Age of onset, if applicable) (Age of onset, if applicable) Yes  No   Unknown 
Associated conditions Cerebral palsy
Mental retardation
Autism
Dementia
Neurodegenerative disorder
None known
Other (specify)
Treatment
Medically refractory yes  no   unknown 
Surgical treatment yes  no   Unknown 
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  
Type of imaging  No Data
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  30

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
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How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
Related Products
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  • NINDS1027

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