| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
6 YR |
| Sex |
Female |
| Age of Onset(If not a control) |
0 DA |
| Age at Diagnosis(If not a control) |
6 MO |
| 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: |
WHOLE EXOME SEQUENCING ANALYSIS OF GENOMIC DNA REVEALED A HETEROZYGOUS PATHOGENIC VARIANT (C.4177G>A) IN EXON 26 OF THE CACNA1A GENE (NM_001127221.1) RESULTING IN A MISSENSE MUTATION (P.V1393M); ALIGNED TO HUMAN GENOME BUILD GRCH37/HG19; |
| Zygosity: |
Heterozygous |
| Other variants: |
SEQUENCE ANALYSIS AND DELETION TESTING OF THE MITOCHONDRIAL GENOME REVEALED A HOMOPLASMIC VARIANT (M.963 C>T) OF UNCERTAIN SIGNIFICANCE IN THE MT-RNR1 GENE (NC_012920.1). |
| Age of Symptom Onset and Age at Diagnosis |
| Age of Symptom Onset: |
BIRTH |
| Age at Diagnosis: |
6 MONTHS |
| In Utero History Information |
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| Birth History Information |
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| Additional Information: |
FOUR DAYS IN NICU DUE TO APNEA, REFLUX, AND AN EPISODE OF TWITCHING |
| Dysmorphic Features |
| |
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| Neurological Symptoms |
| |
Ataxia
Seizures
Sleep abnormalities
|
| Additional Information: |
SEIZURES BEGAN AT 6 MONTHS OF AGE; SPORADIC HEMIPLEGIC MIGRAINE; APRAXIA OF SPEECH; BRAIN MRI SHOWED SMALL PUNCTATE SUSCEPTIBILITY IN FRONTAL HORN OF THE LEFT LATERAL VENTRICLE; DRAVET SYNDROME-LIKE PLEOMORPHIC EPILEPSY; INTRACTIBLE EPILEPSY WITH STATUS EPILEPTICUS; EEG SHOWED DIFFUSE ENCEPHALOPATHY WITH EVIDENCE OF SUPERIMPOSED CEREBRAL DYSFUNCTION WITHIN THE LEFT TEMPORAL REGION; COARSE TREMOR IN HANDS AND ARMS; ACTION TREMOR; CONTINUOUS EEG SHOWED AN STATUS EPILEPTICUS EPISODE, MOST DEVELOPED IN THE LEFT MID TEMPORAL REGION, REGIONAL AND BACKGROUND SLOWING, EXCESS FAST ACTIVITY; TRUNCAL AND APPENDICULAR ATAXIA; CONGENITAL ATAXIA; WIDE-BASED ATAXIC GAIT; MRI W/O CONTRAST SHOWED INCREASED RIGHT CEREBRAL BLOOD FLOW WITH SUBTLE T2 HYPERINTENSITY IN THE DORSAL RIGHT THALAMUS AND RELATIVE INCREASE IN CEREBRAL BLOOD FLOW TO THE LEFT CEREBRAL HEMISPHERE ON THE ASL IMAGING; |
| Optical and Audiological Symptoms |
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| Musculoskeletal Symptoms |
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| Developmental Milestones |
| |
Global developmental delay
Delayed fine motor skills
|
| Additional Information: |
GRAPHOMOTOR AND FINE MOTOR CONTROL CHALLENGING; |
| Gastrointestinal Symptoms |
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| Genitourinary Symptoms |
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| Respiratory and Cardiovascular Symptoms |
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| Cognitive and Behavioral Symptoms |
| |
Anxiety
Autism spectrum disorder
Aggression
Sleep disturbances
|
| Additional Information: |
LIMITED AFFECTIVE RANGE; HYPERACTIVITY; ACTING OUT; DEPRESSED MOOD; DIFFICULTIES LISTENING AND FOLLOWING DIRECTIONS |
| Additional Information |
| Testing Performed |
| Neurological Testing: |
EEG; MRI |
| Musculoskeletal and Developmental Testing: |
NEURODEVELOPMENTAL EVALUATION |
| Metabolic, Hematologic, and Endocrinologic Testing: |
VALPROIC ACID LEVELS LOW; VITAMIN D, 25-OH LEVELS LOW (INSUFFICIENCY); MCV HIGH; PLATELET COUNT LEVELS LOW; MEAN PLATELET VOLUME HIGH; |
| Treatments and Assistive Devices |
| |
Occupational therapy
Physical therapy
Speech therapy
Orthotics
|
| Surgeries |
VAGUS NERVE STIMULATOR |
| Additional Testing: |
ABA THERAPY; EDUCATIONAL SPECIALIST; PULSE OX MONITORING |
| Medications |
| |
TOPIRAMATE; DIVALPROEX SODIUM; LEVETIRACETAM; LEVOCARNITINE; MIDAZOLAM; CLONAZEPAM; VITAMIN D3; FENFLURAMINE; BRIVARACETAM; DIAZEPAM; COENZYME Q10; VERAPAMIL; |
| Family History |
| Remarks |
See "Phenotypic Data" tab; Parents are GM28544 and GM28546 |