| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
25 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
6 MO |
| Age at Diagnosis(If not a control) |
24 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, C.195G>A (P.W65*) |
| Zygosity: |
Heterozygous
Notes: TARGETED NEXT-GENERATION SEQUENCING REVEALED THAT THIS INDIVIDUAL IS HETEROZYGOUS FOR A LIKELY PATHOGENIC VARIANT IN THE SLC2A1 GENE |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
6 MONTHS |
| Age at Diagnosis: |
24 YEARS |
| In Utero History Information |
| |
|
| Birth History Information |
| |
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| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Ataxia
Seizures
|
| Additional Information: |
SEIZURES AT 6 MONTHS OLD; FOCAL EPILEPSY; ASYMMETRIC VOLUME LOSS AND OBSCURATION OF THE NORMAL INTERNAL ARCHITECTURE OF THE RIGHT HIPPOCAMPUS, PARTICULARLY IN ITS MID AND POSTERIOR PORTIONS; MESIAL TEMPORAL SCLEROSIS ON THE RIGHT |
| Optical and Audiological Symptoms |
| |
Nystagmus
|
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Global developmental delay
Delayed fine motor skills
|
| Additional Information: |
SPASTICITY; EXTREMELY WEAK FINE MOTOR SKILLS |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
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| Cognitive and Behavioral Symptoms |
| |
Attention deficit hyperactivity disorder
|
| Intellectual Disability: |
Mild |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
ELECTROENCEPHALOGRAPHY |
| Treatments and Assistive Devices |
| |
Wheelchair or ambulation devices
|
| Additional Testing: |
UNDERGONE TENDON LENGTHENING SURGERY |
| Medications |
| |
LEVETIRACETAM (KEPPRA) - CURRENTLY WEANING OFF, STARTED AT 1500MG DAILY; IBUPROFEN; MEDROXYPROGESTERONE; MELATONIN; MIRABEGRON; OMEGA-3 FATTY ACIDS-VITAMIN E; PYRIDOXINE (VITAMIN B6) |
| Family History |
| |
NO FAMILY HISTORY, NEITHER PARENT CARRIES THE SLC2A1 VARIANT DETECTED |
| Remarks |
See Phenotypic Data tab. |