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ND31356 DNA from Whole Blood

Description:

EPILEPSY

Affected:

Yes

Sex:

Male

Age:

8 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 More than one race
Subject Type trio
Family Type NUCLEAR FAMILIES - MORE THAN ONE AFFECTED
Ethnicity Not Hispanic/Latino
Ethnicity White/Caucasian | American Indian/Alaska Native
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 8 YR
Sex Male
Age of Onset(If not a control) 4 MO
Age at Diagnosis(If not a control) 4 MO
Hispanic or Latino/Not Hispanic or Latino Not Hispanic/Latino
Racial Category More than one race
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: MOM (ND31355),GREAT GRANDFATHER
Family history of other paroxysmal disorder: Migraine present   absent  unknown 
Notes: MOTHERS MATERNAL GRANDMOTHER
Family history of other paroxysmal disorder: Dystonia present  absent   unknown 
Other family members of this person in NINDS repository yes   no 
Notes: ND31355 (MOTHER); ND33979 (FATHER)
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   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 
Notes: NO FURTHER DETAILS AVAILABLE
Unclassifiable seizure type yes  no   Unknown 
Status epilepticus yes  no   Unknown 
Simple febrile seizure yes   no  Unknown 
Notes: NO FURTHER DETAILS AVAILABLE
Complex febrile seizure yes   no  Unknown 
Notes: NO FURTHER DETAILS AVAILABLE
Prolonged febrile seizure yes   no  Unknown 
Notes: NO FURTHER DETAILS AVAILABLE
Etiology
Etiology  Cryptogenic
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  Unknown 
Notes: 7 MONTHS
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: 4 MONTHS
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)  No Data
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 <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  No Data
years smoking  No Data
Miscellaneous
Neurological examination yes   no 
Handedness  No Data
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
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How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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  • NINDS4054

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