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GM28102
Fibroblast
from
Skin, Skin
Description:
MYOCLONIC-ATONIC EPILEPSY; MAE
SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER GABA) MEMBER 1; SLC6A1
Affected:
Yes
Sex:
Male
Age:
3
YR
(At Sampling)
Sample Description
Overview
Characterizations
Phenotypic Data
External Links
Culture Protocols
Overview
Repository
NIGMS Human Genetic Cell Repository
Subcollection
Heritable Diseases
PIGI Consented Sample
Biopsy Source
Skin
Cell Type
Fibroblast
Tissue Type
Skin
Transformant
Untransformed
Sample Source
Fibroblast from Skin, Skin
Race
White
Ethnicity
Norwegian
Country of Origin
USA
Family History
N
Relation to Proband
proband
Confirmation
Molecular characterization before cell line submission to CCR
Species
Homo
sapiens
Common Name
Human
Remarks
See "Phenotypic Data Tab" for details.
Characterizations
PDL at Freeze
7.86
Passage Frozen
2
Gene
SLC6A1
Chromosomal Location
3p25.3
Allelic Variant 1
p.Asp52Asn; MYOCLONIC-ATONIC EPILEPSY
Identified Mutation
c.154G>A (p.Asp52Asn)
Phenotypic Data
Demographic Data
Relation to Proband
proband
Age at Sampling
3 YR
Sex
Male
Age of Onset(If not a control)
5 MO
Age at Diagnosis(If not a control)
3 YR
Racial Category
White
Country
USA
Data Elements
Clinical Element Type: General NIGMS Catalog Remarks
(Baseline)
Mutation Information
Gene, variant, consequence, and exon number:
WHOLE EXOME SEQUENCING (WES) REVEALED AN APPARENTLY DE NOVO LIKELY PATHOGENIC AUTOSOMAL DOMINANT MUTATION IN SLC6A1 (CHR3:11059051): C.154G>A (P.ASP52ASN), NM_003042.3; GRCH37/HG19
Zygosity:
Heterozygous
Other variants:
MITOCHONDRIAL DNA SEQUENCING DID NOT IDENTIFY ANY CLINICALLY SIGNIFICANT VARIANTS
Age of Symptom Onset and Age at Diagnosis
Age of Symptom Onset:
5 MONTHS
Age at Diagnosis:
3 YEARS; DIAGNOSED BY A DEVELOPMENTAL SPECIALIST
In Utero History Information
Birth History Information
Dysmorphic Features
Strabismus
Neurological Symptoms
Hypotonia
Seizures
Additional Information:
ABSENCE SEIZURES; MYOCLONIC ASTATIC EPILEPSY; MOTOR DELAY
Optical and Audiological Symptoms
Defective vision
Additional Information:
EYELID MYOCLONIA
Musculoskeletal Symptoms
Developmental Milestones
Delayed speech and language development
Global developmental delay
Additional Information:
AT 9 MONTHS OF AGE WAS UNABLE TO CRAWL OR SIT UP
Gastrointestinal Symptoms
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
Cognitive and Behavioral Symptoms
Autism spectrum disorder
Additional Information
Testing Performed
Neurological Testing:
ABNORMAL EEG DUE TO ABUNDANT 3-4 HZ ABRUPT ONSET GENERALIZED SLOW SPIKE AND WAVE EPILEPTIFORM DISCHARGES ASSOCIATED WITH CLINICAL SEIZURE, STARING, EYES UP ROLLING AND EYE FLUTTER; FREQUENT VERY BRIEF 2-3 SECONDS ELECTROCLINICAL SEIZURE; EEG AND VEEG ARE SUGGESTIVE OF MODERATE TO SEVERE DIFFUSE CEREBRAL ENCEPHALOPATHY; EPISODE/SPIKE WAVE BURST FREQUENCY OCCURS 20-30/HOUR; NO HEAD DROP OR MYOCLONIC JERKS NOTED; EEG IS DIAGNOSTIC OF SEIZURE DISORDER, WITH A GENERALIZED MECHANISM OF SEIZURE ONSET
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Additional Testing:
OTHER: GLASSES
Medications
VALPROIC ACID; KETO DIET
Family History
Remarks
See "Phenotypic Data Tab" for details.
External Links
Gene Cards
SLC6A1
Gene Ontology
GO:0005331 gamma-aminobutyric acid transporter activity
GO:0005332 gamma-aminobutyric acid:sodium symporter activity
GO:0005624 membrane fraction
GO:0005887 integral to plasma membrane
GO:0006836 neurotransmitter transport
GO:0007268 synaptic transmission
GO:0015293 symporter activity
NCBI Gene
Gene ID:6529
NCBI GTR
137165 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER 1; SLC6A1
616421 MYOCLONIC-ATONIC EPILEPSY; MAE
OMIM
137165 SOLUTE CARRIER FAMILY 6 (NEUROTRANSMITTER TRANSPORTER, GABA), MEMBER 1; SLC6A1
616421 MYOCLONIC-ATONIC EPILEPSY; MAE
Culture Protocols
Cumulative PDL at Freeze
7.86
Passage Frozen
2
Split Ratio
1:6
Temperature
37 C
Percent CO2
5%
Percent O2
3%
Medium
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum
15% fetal bovine serum Not inactivated
Supplement
-
Pricing
Commercial/For-profit:
$311.00
USD
Academic/Non-profit/Government:
$176.00
USD
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