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GM28545 LCL from B-Lymphocyte

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
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
PIGI Consented Sample
Biopsy Source Peripheral vein
Cell Type B-Lymphocyte
Tissue Type Blood
Transformant Epstein-Barr Virus
Sample Source LCL from B-Lymphocyte
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
Birth History Information
Additional Information:  FOUR DAYS IN NICU DUE TO APNEA, REFLUX, AND AN EPISODE OF TWITCHING
Dysmorphic Features
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
Musculoskeletal Symptoms
Developmental Milestones
Global developmental delay
Delayed fine motor skills
Additional Information:  GRAPHOMOTOR AND FINE MOTOR CONTROL CHALLENGING;
Gastrointestinal Symptoms
Genitourinary Symptoms
Respiratory and Cardiovascular Symptoms
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

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

Culture Protocols

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Split Ratio 1:5
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not Inactivated
Substrate None specified
Subcultivation Method dilution - add fresh medium
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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How to Order
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