| Demographic Data |
| Relation to Proband |
mother |
| Age at Sampling |
36 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
2 MO |
| Age at Diagnosis(If not a control) |
25 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
ISRAEL |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SLC2A1, R218H, MISSENSE, EXON 5 |
| Zygosity: |
Heterozygous |
| Other variants: |
SLC2A1, R458W, MISSENSE, EXON 10 |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
2 MONTHS |
| Age at Diagnosis: |
25 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Seizures
|
| Additional Information: |
A SINGLE SEIZURE AT 2 MONTHS
HEMIPLEGIC MIGRAINE AS A TEENAGER
HAND-EYE COORDINATION PROBLEMS
EPISODE OF LOSS OF FEELING IN THE RIGHT SIDE OF THE BODY FOR 20 MINUTES, EVERY ONCE A WHILE |
| Optical and Audiological Symptoms |
| |
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
|
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
|
| Additional Information: |
MATH PROBLEMS
MONOTONICALLY SLOW |
| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
|
| Medications |
| |
ALTERNATIVE MEDICINE TO TREAT MIGRAINES AND RIGHT-SIDE ATTACKS (AGE OF 9 TO 15) |
| Family History |
| |
3 GENERATIONS OF 10 CASES IN TOTAL (SEE PMID: 23340081) FOR THE PEDIGREE TREE
FATHER, 5 SIBLINGS, 3 CHILDREN (ONE HAS RETT SYNDROME AS WELL) |
| Remarks |
Clinically affected. Patient 1's mother in the publication (PMID: 23340081). See the 'Phenotypic Data" tab. Heterozygous mutation in the SLC2A1 gene: R218H and R458W in the same allele. Clinically affected daughter is GM27686 (LCL). |