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ND06972
DNA
from
LCL
Description:
EPILEPSY
EPILEPSY, GENERALIZED: CAUCASIAN
Affected:
Yes
Gender:
Female
Age:
13
YR
(At Sampling)
Sample Description
Overview
Phenotypic Data
External Links
Images
Overview
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
DNA from LCL
Race
White
Subject Type
trio
Family Type
NUCLEAR FAMILIES - ONE AFFECTED
Ethnicity
Not Hispanic/Latino
Country of Origin
USA
Family Member
1
Family History
Y
Relation to Proband
proband
Species
Homo
sapiens
Common Name
Human
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
13 YR
Gender
Female
Age of Onset(If not a control)
14 MO
Age at Diagnosis(If not a control)
No Data
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:
MOTHER HAD SEVERAL FEBRILE SZS UNDER 4 YRS OF AGE; FATHER HAD ONE FEBRILE SZ IN INFANCY. MATERNAL UNCLE HAD FEBRILE SZ IN INFANCY.
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:
ND06973, ND06974
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
No Data
Focal dyscognitive
No Data
Focal evolving to generalized convulsion
No Data
Generalized - typical absence
yes
no
Generalized - atypical absence
No Data
Myoclonic
No Data
Clonic
No Data
Tonic
No Data
Tonic-Clonic
yes
no
Atonic
No Data
Infantile spasms
No Data
Unclassifiable seizure type
No Data
Status epilepticus
No Data
Simple febrile seizure
yes
no
Complex febrile seizure
No Data
Prolonged febrile seizure
No Data
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
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
No Data
Surgical treatment
No Data
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
No Data
years smoking
No Data
Miscellaneous
Neurological examination
No Data
Handedness
No Data
State Examination (MMSE) score
No Data
External Links
dbSNP
dbSNP ID: 18259
Gene Cards
EGI
NCBI GTR
600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG
OMIM
600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG
Omim Description
EPILEPSY, GENERALIZED, IDIOPATHIC; EGI
Images
View
pedigree
Culture Protocols
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 and Non-U.S.:
$0.00
USD
U.S. Academic or
Non-profit:
$0.00
USD
NINDS Repository Submitter (past or current) and/or Current NINDS Grantee
$0.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
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