| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
8 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
1 YR |
| Age at Diagnosis(If not a control) |
7 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
SLC2A1 GENE, C.680-11G>A, INTRON IVS5 (PATHOGENIC VARIANT) |
| Zygosity: |
Heterozygous
Notes: AUTOSOMAL DOMINANT |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
1 YEAR |
| Age at Diagnosis: |
7 YEARS BY PEDIATRIC NEUROLOGIST |
| In Utero History Information |
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| Birth History Information |
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| Dysmorphic Features |
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| Neurological Symptoms |
| |
Seizures
|
| Additional Information: |
ABSENCE EPILEPTIC SYNDROME; ABSENCE SEIZURES INCREASING WITH AGE; ATYPICAL SEIZURE AFTER EATING A FOOD CONTAINING HIGH AMOUNT OF SUGAR |
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
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| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
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| Additional Information |
| Testing Performed |
| Treatments and Assistive Devices |
| |
Occupational therapy
|
| Additional Testing: |
PSYCHOLOGICAL THERAPY |
| Medications |
| |
ZARONTIN (250 MG/DAY); MEDICATION FAILURES (AFTER ORIGINAL DIAGNOSIS OF EPILEPSY AT AGE 5) |
| Family History |
| |
UNAFFECTED MOTHER GM27668 AND UNAFFECTED FATHER GM27669 |