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NA28545 DNA from LCL

Description:

DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42
CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A

Affected:

Yes

Sex:

Female

Age:

6 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Quantity 25 µg
Quantitation Method Please see our FAQ
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source DNA from LCL
Race White
Ethnicity Not Hispanic/Latino
Country of Origin USA
Family Member 1
Family History N
Relation to Proband proband
Confirmation Biochemical characterization before cell line submission to CCR
Species Homo sapiens
Common Name Human
Remarks See "Phenotypic Data" tab; Parents are GM28544 and GM28546

Characterizations

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Gene CACNA1A
Chromosomal Location 19p13.13
Allelic Variant 1 p.Val1393Met; DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42
Identified Mutation c.4177G>A (p.V1393M)

Phenotypic Data

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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
Abnormal fetal heart rate or rhythm
Fetal growth issues
Advanced maternal age
Decreased fetal movement
Intrauterine growth restriction
Oligohydramnios
Polyhydramnios
Assisted reproduction
Additional Information:  No Data
Birth History Information
Low birth weight
Jaundice
Difficulty breathing
Abnormal serum screen
Failure to thrive
Positive newborn screen
Caesarian section
Neural tube defect
Meconium ileus
Gastroischisis
Premature delivery
Additional Information:  FOUR DAYS IN NICU DUE TO APNEA, REFLUX, AND AN EPISODE OF TWITCHING
Dysmorphic Features
Strabismus
Coarse facies
Short philtrum
Wide mouth
Cleft lip
Cleft palate
Cupped ears
Thick fleshy lips
Widely-spaced teeth
Tented cupid
Fetal pads
Simian crease
Abnormal hands or feet
Hypertelorism
Hypotelorism
Macrocephaly
Microcephaly
Holoprosencephaly
Additional Information:  No Data
Neurological Symptoms
Neuropathy:  No Data
Lissencephaly
Cerebral palsy
Corpus callosum abnormalities
Ataxia
Chorea
Dystonia
Hypertonia
Hypotonia
Seizures
Structural brain anomaly
Hydrocephalus
Sleep abnormalities
Polymicrogyria
Unstable gait
Dandy walker
White matter issues
Basal ganglia damage
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
Defective vision
Pupil abnormality
Cornea abnormality
Nystagmus
Optic disk palor
Optic nerve damage
Blindness
Deafness
Defective hearing
Blepharitis
Congenital exotropia
Alacrima
Additional Information:  No Data
Musculoskeletal Symptoms
Acromelia
Rhizomelia
Club foot
Contractures
Scoliosis
Kyphosis
Skeletal dysplasia
Vertebral anomalies
Non-ambulatory
Additional Information:  No Data
Developmental Milestones
Delayed speech and language development
Global developmental delay
Delayed fine motor skills
Delayed gross motor skills
Abnormal height for age
Abnormal weight for age
Holding Head Up Without Assistance:  No Data
Sitting Without Assistance:  No Data
Walking Without Assistance:  No Data
Running:  No Data
Additional Information:  GRAPHOMOTOR AND FINE MOTOR CONTROL CHALLENGING;
Gastrointestinal Symptoms
Hepatosplenomegaly
Pyloric stenosis
Hirschsprung
Bloating
Constipation
Gastrointestinal reflux
Eating difficulties
Cholecystectomy
Liver abnormalities
Pancreatitis
Esophageal atresia
Additional Information:  No Data
Genitourinary Symptoms
Kidney abnormalities
Abnormalities of the ureter
Abnormalities of the urethra
Polycystic kidneys
Renal agenesis
Urethral obstruction
Hydronephrosis
Megacystis
Urinary tract infection
Ovarian cancer
Cryptorchidism
Ambiguous genitalia
Additional Information:  No Data
Respiratory and Cardiovascular Symptoms
Hypoplastic left heart
Hypoplastic right heart
Coarctation of aorta
Atrial septal defect
AV canal defect
Tetralogy of fallot
Truncus arteriosus
Ebstein anomaly
Heart murmur
Poor circulation
Breathing irregularities
Pneumothorax
Diaphragmatic hernia
Asthma
Pulmonary valve atresia
Additional Information:  No Data
Cognitive and Behavioral Symptoms
Happy personality
Anxiety
Mood disorder
Behavioral problems
Autism spectrum disorder
Sensory processing disorder
Aggression
Memory loss
Sleep disturbances
Learning disability
Attention deficit hyperactivity disorder
Intellectual Disability:  No Data
Additional Information:  LIMITED AFFECTIVE RANGE; HYPERACTIVITY; ACTING OUT; DEPRESSED MOOD; DIFFICULTIES LISTENING AND FOLLOWING DIRECTIONS
Additional Information
Uncategorized Symptoms:  No Data
Testing Performed
Neurological Testing:  EEG; MRI
Optical and Audiological Testing:  No Data
Musculoskeletal and Developmental Testing:  NEURODEVELOPMENTAL EVALUATION
Respiratory and Cardiovascular Testing:  No Data
Cognitive and Behavioral Testing:  No Data
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;
Uncategorized Testing:  No Data
Treatments and Assistive Devices
Occupational therapy
Physical therapy
Speech therapy
Wheelchair or ambulation devices
Orthotics
Service animal
Hearing aid
Communication or learning devices
music therapy
horseback therapy
craniosacral therapy
glasses
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
 No Data
Remarks See "Phenotypic Data" tab; Parents are GM28544 and GM28546

External Links

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Gene Cards CACNA1A
Gene Ontology GO:0003677 DNA binding
GO:0005245 voltage-gated calcium channel activity
GO:0005509 calcium ion binding
GO:0005634 nucleus
GO:0005891 voltage-gated calcium channel complex
GO:0006355 regulation of transcription, DNA-dependent
GO:0006812 cation transport
GO:0006816 calcium ion transport
GO:0007204 cytosolic calcium ion concentration elevation
GO:0007268 synaptic transmission
GO:0007399 neurogenesis
GO:0008219 cell death
GO:0016021 integral to membrane
NCBI Gene Gene ID:773
NCBI GTR 601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A
617106 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42
OMIM 601011 CALCIUM CHANNEL, VOLTAGE-DEPENDENT, P/Q TYPE, ALPHA-1A SUBUNIT; CACNA1A
617106 DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 42; DEE42
Pricing
International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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How to Order
  • Ordering Instructions
  • MTA / Assurance Form
  • Statement of Research Intent Form
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