NA25431

NA25431 DNA from Fibroblast

Description:

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74; DEE74
GAMMA-AMINOBUTYRIC ACID RECEPTOR, ALPHA-2; GABRA2

Affected:

Yes

Sex:

Female

Age:

9 YR (At Sampling)

Overview

Repository

NIGMS Human Genetic Cell Repository

Subcollection

Heritable Diseases
PIGI Consented Sample

Quantity

10 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Abdomen

Cell Type

Fibroblast

Tissue Type

Skin

Transformant

Untransformed

Sample Source

DNA from Fibroblast

Race

White

Ethnicity

Not Hispanic/Latino

Ethnicity

RUSSIAN/POLISH/ISRAELI

Country of Origin

USA

Family Member

Family History

Relation to Proband

proband

Confirmation

Molecular characterization before cell line submission to CCR

Species

Homo sapiens

Common Name

Human

Remarks

Clinically affected; onset of symptoms at 2 months of age; diagnosed at 9 years by geneticist; refractory epilepsy; seizures; mental retardation and global developmental delay; vision impairment; severe hypotonia (low muscle tone) and aspirations; failure to thrive; neurogenic scoliosis; abnormal EEG; assistive devices: wheelchair, braces, communication/learning device; therapies: psychological, speech language; medications: lamotrigine; surgeries: muscle biopsy, gastric feeding tube; subject is heterozygous for de novo Pro282Ser (c.844C>T) mutation in the GABRG2 gene (as confirmed by sequencing of genomic DNA); unaffected mother is GM25432 (fibroblast).