| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
19 YR |
| Sex |
Female |
| Age at Diagnosis(If not a control) |
10 YR |
| Hispanic or Latino/Not Hispanic or Latino |
Not Hispanic/Latino |
| Racial Category |
White |
| Country |
GERMANY |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
C.1454 C>T (P.PRO485LEU) PATHOGENIC MUTATION IN SLC2A1 |
| Zygosity: |
Heterozygous |
| Age of Symptom Onset and Age at Diagnosis |
| Age at Diagnosis: |
10 |
| In Utero History Information |
| |
|
| Birth History Information |
| |
Caesarian section
|
| Dysmorphic Features |
| |
|
| Neurological Symptoms |
| |
Ataxia
Hypotonia
Seizures
White matter issues
|
| Additional Information: |
ENCEPHALOPATHY WITH OCULAR VERSIONS IN ADDITION TO BEHAVIORAL ARREST; MILD PERIVENTRICULAR WHITE MATTER VOLUME LOSS; GLIOSIS; HAND SPASTICITY; MILD HYPOTONICITY IN LIMBS; ADDUCTOR SPASTICITY IN LOWER EXTREMITIES; FINGER-TAPPING; INCREASED PAIN TOLERANCE; BABINSKI SIGNS |
| Optical and Audiological Symptoms |
| |
|
| Additional Information: |
OCULOMOTOR DYSPRAXIA |
| Musculoskeletal Symptoms |
| |
|
| Additional Information: |
MILD SHORTENING OF ACHILLES TENDON BILATERALLY |
| Developmental Milestones |
| |
|
| Additional Information: |
MOTOR DISABLED |
| Gastrointestinal Symptoms |
| |
Constipation
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Happy personality
|
| Intellectual Disability: |
Moderate |
| Additional Information: |
DYSARTHRIC SPEECH |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
VIDEO EEG DOCUMENTED FREQUENT BURSTS OF SPIKE-AND-SLOW-WAVE AT 3 HZ; BRAIN PET SCAN ILLUSTRATES DIMINISHED CORTICAL UPTAKE, DIMINISHED THALAMIC UPTAKE, INCREASED UPTAKE IN BASAL GANGLIA, AND DIMINISHED CEREBELLAR UPTAKE WITHOUT FOCALITY; BRAIN MRI COMPATIBLE WITH MILD PERIVENTRICULAR WHITE MATTER VOLUME LOSS AND GLIOSIS |
| Uncategorized Testing: |
LUMBAR PUNCTURE REVEALED LOW CSF GLUCOSE |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Additional Testing: |
KETOGENIC DIET; ATKINS DIET; VAGAL NERVE STIMULATOR; TONSILLECTOMY; ADENOIDECTOMY |
| Medications |
| |
ACETAZOLAMIDE; TIAGABINE (ALLERGIC); LAMOTRIGINE (ALLERGIC); POLYCITRA; MULTIVITAMINS; OMEGA 369; VITAMIN DROPS; ETHOSUXIMIDE; LEVETIRACETAM; FELBAMATE; TOPIRAMATE; ZONISAMIDE; VALPROATE; PHENOBARBITAL; MIDAZOLAM |
| Family History |
| |
SISTER SUFFERED FROM STATUS EPILEPTICUS AND HAD COMPLEX FEBRILE SEIZURES; 2 COUSINS HAD SEIZURES, 1 OF WHICH SUFFERS FROM COMPLEX PARTIAL EPILEPSY |
| Remarks |
See Phenotypic Data tab. This line is the isogenic control for the patient-derived iPSC line GM27896; parental fibroblast GM27897. Researchers purchasing hiPSCs from the NIGMS Repository are responsible for any limited use label licenses (LULLs) applicable to the cell line purchased. The applicable LULL to this line is iPS Academia, Japan Inc.. |