Associate Professor, Neurology, Washington University in St. Louis School of Medicine
Neurology
Dr. Christina A. Gurnett, MD
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Doctor Christina A. Gurnett, MD works in the field of Neurology. She studied medicine at University of Iowa Carver College of Medicine. University of Iowa Carver College of Medicine is ranked 29 in research and 16 in primary care medicine Christina Gurnett is also published. She has 74 publications published. The lastest publication: "Overlay and bead assay. Determination of calcium channel subunit interaction domains.'
Publications
- A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis.
- Exome Sequencing Identifies a Rare HSPG2 Variant Associated with Familial Idiopathic Scoliosis.
- Kinesin family member 6 (kif6) is necessary for spine development in zebrafish.
- Are Copy Number Variants Associated With Adolescent Idiopathic Scoliosis?
- Genome-wide association study identifies new disease loci for isolated clubfoot.
- Multiplexed direct genomic selection (MDiGS): a pooled BAC capture approach for highly accurate CNV and SNP/INDEL detection.
- Novel SCN3A variants associated with focal Epilepsy in children.
- Palliative Epilepsy surgery in Aicardi syndrome: a case series and review of literature.
- BRAF(V600E) mutation is a negative prognosticator in pediatric ganglioglioma.
- Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development.
- Copy number variation analysis implicates the cell polarity gene glypican 5 as a human spina bifida candidate gene.
- Polygenic threshold model with sex dimorphism in adolescent idiopathic scoliosis: the Carter effect.
- Variants in genes that encode muscle contractile proteins influence risk for isolated clubfoot.
- Genetics of clubfoot.
- Pitx1 haploinsufficiency causes clubfoot in humans and a clubfoot-like phenotype in mice.
- Common polymorphisms in human lysyl oxidase genes are not associated with the adolescent idiopathic scoliosis phenotype.
- Copy number variants and infantile spasms: evidence for abNormalities in ventral forebrain development and pathways of synaptic function.
- Vascular abNormalities correlate with decreased soft tissue volumes in idiopathic clubfoot.
- Exome Sequencing Identifies an MYH3 Mutation in a Family with Distal Arthrogryposis Type 1.
- Skeletal muscle abNormalities and genetic factors related to vertical talus.
- Voltage-gated potassium channel KCNV2 (Kv8.2) contributes to Epilepsy susceptibility.
- Evaluation of GPR50, hMel-1B, and ROR-alpha melatonin-related receptors and the etiology of adolescent idiopathic scoliosis.
- Familial isolated clubfoot is associated with recurrent chromosome 17q23.1q23.2 microduplications containing TBX4.
- Genome-wide copy number variation in Epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
- Pilocytic astrocytoma in a child with Noonan syndrome.
- Altered transmission of HOX and apoptotic SNPs identify a potential common pathway for clubfoot.
- DICER1 mutations in familial pleuropulmonary blastoma.
- Early results of the Ponseti method for the treatment of clubfoot associated with myelomeningocele.
- Magnetic resonance angiography in clubfoot and vertical talus: a feasibility study.
- Skeletal muscle contractile gene (TNNT3, MYH3, TPM2) mutations not found in vertical talus or clubfoot.
- Update on clubfoot: etiology and treatment.
- Genetic linkage localizes an adolescent idiopathic scoliosis and pectus excavatum gene to chromosome 18 q.
- Polygenic threshold model with sex dimorphism in clubfoot inheritance: the Carter effect.
- Asymmetric lower-limb malformations in individuals with homeobox PITX1 gene mutation.
- Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation.
- Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial Epilepsy and mental retardation.
- Absence of HOXD10 mutations in idiopathic clubfoot and sporadic vertical talus.
- New ideas in Epilepsy genetics: novel Epilepsy genes, copy number alterations, and gene regulation.
- Additional evidence of a locus for complex febrile and afebrile seizures on chromosome 12q22-23.3.
- Two novel point mutations in the long-range SHH enhancer in three families with triphalangeal thumb and preaxial polydactyly.
- Evidence for an additional locus for split hand/foot malformation in chromosome region 8q21.11-q22.3.
- Defining the phenotype to discover the genotype.
- HOXD10 M319K mutation in a family with isolated congenital vertical talus.
- Variable hand and foot abNormalities in family with congenital vertical talus and CDMP-1 gene mutation.
- Flexor digitorum accessorius longus muscle is associated with familial idiopathic clubfoot.
- Factors predictive of outcome after use of the Ponseti method for the treatment of idiopathic clubfeet.
- Analysis of cerebrospinal fluid glial fibrillary acidic protein after seizures in children.
- Intramembrane charge movements and excitation- contraction coupling expressed by two-domain fragments of the Ca2+ channel.
- Successful use of a biphasic waveform automated external defibrillator in a high-risk child.
- Localization of dominantly inherited isolated triphalangeal thumb to chromosomal region 7q36.
- Treatment of idiopathic clubfoot: an historical review.
- Overlay and bead assay. Determination of calcium channel subunit interaction domains.
- Dissection of functional domains of the voltage-dependent Ca2+ channel alpha2delta subunit.
- Extracellular interaction of the voltage-dependent Ca2+ channel alpha2delta and alpha1 subunits.
- Direct binding of G-protein betagamma complex to voltage-dependent calcium channels.
- Subunit stoichiometry of human muscle chloride channels.
- Expression and subunit interaction of voltage-dependent Ca2+ channels in PC12 cells.
- Transmembrane auxiliary subunits of voltage-dependent ion channels.
- Dual function of the voltage-dependent Ca2+ channel alpha 2 delta subunit in current stimulation and subunit interaction.
- Structural and functional diversity of voltage-activated calcium channels.
- Identification of three subunits of the high affinity omega-conotoxin MVIIC-sensitive Ca2+ channel.
- Beta subunit heterogeneity in N-type Ca2+ channels.
- Norepinephrine release from guinea pig cardiac sympathetic nerves is insensitive to ryanodine under physiological conditions.
- Absence of the skeletal muscle sarcolemma chloride channel ClC-1 in myotonic mice.
- Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic Epilepsy.
- Impact of congenital talipes equinovarus etiology on treatment outcomes.
- A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.
- Mutations in prickle orthologs cause seizures in flies, mice, and humans.
- Genome-wide association studies of adolescent idiopathic scoliosis suggest candidate susceptibility genes.
- Novel genetic findings in an extended family pedigree with sleepwalking.
- Congenital myasthenic syndrome: presentation, electrodiagnosis, and muscle biopsy.
- A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus Epilepsy-ataxia syndrome.
- Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.
Schools
University of Ia Roy J amp L Carver Com
University Ia
Washington University
Procedures Preformed
- EEG (Electroencephalogram)
Conditions Treated
- Convulsions
- Epilepsy
- Headache
- Hydrocephalus
- View All
Doctors Specialties
- Clinical Neurophysiology
- Neurology
Accepted Insurances
Education
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Washington University -
University of Iowa Hospitals and Clinics -
University of Iowa Carver College of Medicine
Hospital
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St. Louis Children's Hospital
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