| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
3 YR |
| Sex |
Male |
| Age of Onset(If not a control) |
5 MO |
| Age at Diagnosis(If not a control) |
3 YR |
| Racial Category |
White |
| Country |
USA |
| |
| Data Elements |
| Clinical Element Type: General NIGMS Catalog Remarks |
| (Baseline) |
| Mutation Information |
| Gene, variant, consequence, and exon number: |
WHOLE EXOME SEQUENCING (WES) REVEALED AN APPARENTLY DE NOVO LIKELY PATHOGENIC AUTOSOMAL DOMINANT MUTATION IN SLC6A1 (CHR3:11059051): C.154G>A (P.ASP52ASN), NM_003042.3; GRCH37/HG19 |
| Zygosity: |
Heterozygous |
| Other variants: |
MITOCHONDRIAL DNA SEQUENCING DID NOT IDENTIFY ANY CLINICALLY SIGNIFICANT VARIANTS |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
5 MONTHS |
| Age at Diagnosis: |
3 YEARS; DIAGNOSED BY A DEVELOPMENTAL SPECIALIST |
| In Utero History Information |
| |
|
| Birth History Information |
| |
|
| Dysmorphic Features |
| |
Strabismus
|
| Neurological Symptoms |
| |
Hypotonia
Seizures
|
| Additional Information: |
ABSENCE SEIZURES; MYOCLONIC ASTATIC EPILEPSY; MOTOR DELAY |
| Optical and Audiological Symptoms |
| |
Defective vision
|
| Additional Information: |
EYELID MYOCLONIA |
| Musculoskeletal Symptoms |
| |
|
| Developmental Milestones |
| |
Delayed speech and language development
Global developmental delay
|
| Additional Information: |
AT 9 MONTHS OF AGE WAS UNABLE TO CRAWL OR SIT UP |
| Gastrointestinal Symptoms |
| |
|
| Genitourinary Symptoms |
| |
|
| Respiratory and Cardiovascular Symptoms |
| |
|
| Cognitive and Behavioral Symptoms |
| |
Autism spectrum disorder
|
| Additional Information |
| Testing Performed |
| Neurological Testing: |
ABNORMAL EEG DUE TO ABUNDANT 3-4 HZ ABRUPT ONSET GENERALIZED SLOW SPIKE AND WAVE EPILEPTIFORM DISCHARGES ASSOCIATED WITH CLINICAL SEIZURE, STARING, EYES UP ROLLING AND EYE FLUTTER; FREQUENT VERY BRIEF 2-3 SECONDS ELECTROCLINICAL SEIZURE; EEG AND VEEG ARE SUGGESTIVE OF MODERATE TO SEVERE DIFFUSE CEREBRAL ENCEPHALOPATHY; EPISODE/SPIKE WAVE BURST FREQUENCY OCCURS 20-30/HOUR; NO HEAD DROP OR MYOCLONIC JERKS NOTED; EEG IS DIAGNOSTIC OF SEIZURE DISORDER, WITH A GENERALIZED MECHANISM OF SEIZURE ONSET |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
|
| Additional Testing: |
OTHER: GLASSES |
| Medications |
| |
VALPROIC ACID; KETO DIET |
| Family History |
| Remarks |
See "Phenotypic Data Tab" for details. |