Constance Smith-Hicks

Constance Smith-Hicks

UNVERIFIED PROFILE

Are you Constance Smith-Hicks?   Register this Author

Register author
Constance Smith-Hicks

Constance Smith-Hicks

Publications by authors named "Constance Smith-Hicks"

Are you Constance Smith-Hicks?   Register this Author

21Publications

429Reads

9Profile Views

De novo and inherited variants in ZNF292 underlie a neurodevelopmental disorder with features of autism spectrum disorder.

Genet Med 2019 Nov 14. Epub 2019 Nov 14.

Division of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-019-0693-9DOI Listing
November 2019

Rett Syndrome and CDKL5 Deficiency Disorder: From Bench to Clinic.

Int J Mol Sci 2019 Oct 15;20(20). Epub 2019 Oct 15.

The Hugo Moser Research Institute at Kennedy Krieger, Baltimore, MD 21205, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/ijms20205098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6834180PMC
October 2019

Caregivers' perception of and experience with variants of uncertain significance from whole exome sequencing for children with undiagnosed conditions.

J Genet Couns 2019 04 24;28(2):304-312. Epub 2019 Jan 24.

Kennedy Krieger Institute, Johns Hopkins University, Baltimore, Maryland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jgc4.1093DOI Listing
April 2019

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease.

Neurology 2018 11 9;91(22):e2078-e2088. Epub 2018 Nov 9.

From the Department of Clinical and Experimental Epilepsy (S.Z., Z.M., L.H.-H., S.K., S. Balestrini, S.M.S.) and Division of Neuropathology (Z.M., M.T.), UCL Institute of Neurology, London, UK; Clinic of Neurology (S.Z.), Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy; Department of Pediatric Neurology and Neurological Rehabilitation (C.S., T.H., P.W., G.J.K.) and Neurosurgery Clinic and Clinic for Epilepsy Surgery (M.K.), Schön Klinik Vogtareuth; Department of Pediatrics (C.S., M.S.), Children's Hospital Augsburg, Germany; UCL Great Ormond Street Institute of Child Health (J.R.N., K.V., S.M.V., J.H.C.), London, UK; Paediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G.), A. Meyer Children's Hospital, University of Florence, Italy; Chalfont Centre for Epilepsy (Z.M., L.H.-H., S.K., S. Balestrini, S.M.S.), Chalfont-St-Peter, Buckinghamshire, UK; CeGaT-Center for Genomics and Transcriptomics (A.P., S. Biskup), Tübingen, Germany; Neurogenetics Unit (M.L.), Department of Medical Genetics, Hospital de São João, Porto, Portugal; Department of Pediatrics and Adolescent Medicine (J.G.), University Medical Center Göttingen; Hospital for Children and Adolescents (A.M.), University Clinic Leipzig, Germany; Freiburg Medical Laboratory (M.J.), Dubai; The Danish Epilepsy Centre (R.S.M., E.G.), Dianalund; Institute for Regional Health Services (R.S.M., E.G.), University of Southern Denmark, Odense; Department of Clinical Genetics (B.S.K.), Odense University Hospital; Hans Christian Andersen Children's Hospital (L.K.H.), Odense, Denmark; Pediatric Neurology and Muscular Diseases Unit (M.S.V., P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa "G. Gaslini" Institute, Italy; Division of Neurology (K.L.H.), Children's Hospital of Philadelphia, PA; Department of Neurology (S.D., C.L.S.-H.), Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD; Center for Genomic Medicine (N.H.-F.), Tohoku University; Department of Pediatrics (N.H.-F.), Tohoku University School of Medicine, Sendai, Japan; Department of Pediatrics (T.T., R.L.) and Institute of Clinical Medicine (K.O.), University of Tartu; Children's Clinic (T.T., R.L.), Department of Radiology (P.I.), and Department of Clinical Genetics, United Laboratories (K.O.), Tartu University Hospital, Estonia; Ludwig-Maximilians-University Munich (I.K.); Department of Pediatric Neurology (A.H.), Clinic Traunstein; Children's Hospital (M.K.), Dr. Horst Schmidt Klinik, Wiesbaden; Altona Children's Hospital (J.H.), Hamburg; Department of Pediatrics (C. Makowski), Technische Universität München, Germany; Department of Clinical Genetics (S.G.), Royal North Shore Hospital, St Leonards; John Hunter Children's Hospital (G.M.S.), New Lambton Heights, New South Wales, Australia; Department of Neurology (R.T.), University Hospital of Wales; Institute of Psychological Medicine and Clinical Neurosciences (R.H.T.), Cardiff University; Division of Neuroradiology (C. Micallef), National Hospital for Neurology and Neurosurgery, London; Department of Brain Repair & Rehabilitation (D.J.W.), Stroke Research Centre, UCL Institute of Neurology, London, UK; Paracelsus Medical University (G.J.K.), Salzburg, Austria; and IRCCS Stella Maris Foundation (R.G.), Pisa, Italy.

View Article

Download full-text PDF

Source
http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
Publisher Site
http://dx.doi.org/10.1212/WNL.0000000000006567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282239PMC
November 2018

De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature.

Pediatr Neurol 2018 08 4;85:76-78. Epub 2018 Apr 4.

Division of Pediatric Neurology, Department of Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2018.03.005DOI Listing
August 2018

A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.

Hum Mutat 2018 06 26;39(6):827-829. Epub 2018 Apr 26.

CHU Sainte-Justine Research Center, University of Montreal, Montreal, QC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23426DOI Listing
June 2018

Monogenic disorders that mimic the phenotype of Rett syndrome.

Neurogenetics 2018 01 10;19(1):41-47. Epub 2018 Jan 10.

Hugo W. Moser Research Institute at Kennedy Krieger Institute, 707 North Broadway, Baltimore, MD, 21205, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10048-017-0535-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6156085PMC
January 2018

Increased Sparsity of Hippocampal CA1 Neuronal Ensembles in a Mouse Model of Down Syndrome Assayed by Arc Expression.

Front Neural Circuits 2017 3;11. Epub 2017 Feb 3.

Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of MedicineBaltimore, MD, USA; Department of Neurology, Johns Hopkins University School of MedicineBaltimore, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fncir.2017.00006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5289947PMC
October 2017

Randomized open-label trial of dextromethorphan in Rett syndrome.

Neurology 2017 Oct 20;89(16):1684-1690. Epub 2017 Sep 20.

From the Departments of Neurology (C.L.S.-H., S.G., J.B.E., M.V.J., S.N.), Psychological and Brain Science (J.B.E.), Pediatrics (L.K., R.K.), Psychiatry (E.T.), and Psychology (R.V.), and the Neurogenetics Department (G.B.), Kennedy Krieger Institute, Johns Hopkins University School of Medicine (N.B.); Investigational Drug Service, Department of Pharmacy (M.H.), Johns Hopkins Hospital; and Johns Hopkins Bloomberg School of Public Health (A.S., G.Y.), Johns Hopkins Biostatistics Center, Baltimore, MD.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000004515DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5644464PMC
October 2017

Neuroimaging Abnormalities in a Child With Infantile Spasms on High-Dose Vigabatrin.

Pediatr Neurol 2017 Feb 13;67:109-110. Epub 2016 Oct 13.

Division of Pediatric Neurology, The Johns Hopkins University School of Medicine, Baltimore, Maryland; Division of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, Maryland.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S08878994163075
Publisher Site
http://dx.doi.org/10.1016/j.pediatrneurol.2016.10.004DOI Listing
February 2017

GABAergic dysfunction in pediatric neuro-developmental disorders.

Front Cell Neurosci 2013 Dec 19;7:269. Epub 2013 Dec 19.

Neurology, Kennedy Krieger Institute Baltimore, MD, USA ; Neurology, Johns Hopkins School of Medicine Baltimore, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fncel.2013.00269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3867664PMC
December 2013

SRF binding to SRE 6.9 in the Arc promoter is essential for LTD in cultured Purkinje cells.

Nat Neurosci 2010 Sep 8;13(9):1082-9. Epub 2010 Aug 8.

Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nn.2611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3003596PMC
September 2010

A double blind randomized placebo control trial of levetiracetam in Tourette syndrome.

Mov Disord 2007 Sep;22(12):1764-70

Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland 21287, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.21615DOI Listing
September 2007

Case 9: pregnant? Who's pregnant? Memory loss in a young woman.

MedGenMed 2005 May 26;7(2):59. Epub 2005 May 26.

Department of Pediatric Neurology, Johns Hopkins Hospital, Baltimore, Maryland, USA.

View Article

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1681593PMC
May 2005