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ND31115
LCL
from
B-Lymphocyte
Description:
EPILEPSY
Affected:
Yes
Gender:
Female
Age:
4
YR
(At Sampling)
Sample Description
Overview
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NINDS Repository
Subcollection
Epilepsy
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
Not Hispanic/Latino
Country of Origin
USA
Family Member
1
Family History
N
Relation to Proband
proband
Species
Homo
sapiens
Common Name
Human
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
4 YR
Gender
Female
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
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:
MOTHERS COUSINS DAUGHTER
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:
ND31114 (FATHER) ND31113 (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
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
Complex febrile seizure
yes
no
Unknown
Prolonged febrile seizure
yes
no
Unknown
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:
5 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
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
epileptiform abnormalities
Generalized spike and wave
<2.5Hz slow
2.5-3.5Hz
>3.5Hz
Unspecified
Focal spikes
Temporal
Extra temporal
Multifocal
Unspecified
Nonepileptiform abnormalities focal slowing
No Data
Imaging
normal
abnormal
not done
Notes:
FOCAL MIGRATION ABNORMALITY (EX. HETEROTOPIC GREY MATTER)
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
Gene Cards
EGI
NCBI GTR
600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG
OMIM
600669 EPILEPSY, IDIOPATHIC GENERALIZED; EIG
Omim Description
EPILEPSY, GENERALIZED, IDIOPATHIC; EGI
dbGaP Link
phs000654
Culture Protocols
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:
$0.00
USD
Academic &
Non-profit:
$0.00
USD
Add to Cart
How to Order
Ordering Instructions
MTA / Assurance Form
Statement of Research Intent Form
Related Products
Same Subject
ND31115 - DNA
Same Family
NINDS4033