Katalin Sterbova

Katalin Sterbova

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Katalin Sterbova

Katalin Sterbova

Publications by authors named "Katalin Sterbova"

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Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
April 2019

UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood.

Neuropediatrics 2019 02 5;50(1):57-60. Epub 2018 Dec 5.

DNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1676288
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http://dx.doi.org/10.1055/s-0038-1676288DOI Listing
February 2019

Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins.

Neuropediatrics 2018 06 14;49(3):204-208. Epub 2018 Feb 14.

DNA Laboratory, Department of Pediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1055/s-0038-1626708DOI Listing
June 2018

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life.

Orphanet J Rare Dis 2018 05 2;13(1):71. Epub 2018 May 2.

Department of Paediatric Neurology, DNA Laboratory, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1186/s13023-018-0812-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932755PMC
May 2018

Two Novel Variants Affecting CDKL5 Transcript Associated with Epileptic Encephalopathy.

Genet Test Mol Biomarkers 2017 Oct 5;21(10):613-618. Epub 2017 Sep 5.

1 DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol , Prague, Czech Republic .

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http://dx.doi.org/10.1089/gtmb.2017.0110DOI Listing
October 2017

Analysis of 31-year-old patient with SYNGAP1 gene defect points to importance of variants in broader splice regions and reveals developmental trajectory of SYNGAP1-associated phenotype: case report.

BMC Med Genet 2017 06 2;18(1):62. Epub 2017 Jun 2.

Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Plzenska 130/221, 15000, Prague 5, Czech Republic.

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http://dx.doi.org/10.1186/s12881-017-0425-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457574PMC
June 2017

KCNQ2 Mutation Explains the Etiology of Chloral Hydrate-Responsive Ohtahara Syndrome.

Pediatr Neurol 2017 02 8;67:e3-e4. Epub 2016 Dec 8.

DNA Laboratory, Department of Child Neurology, 2nd Faculty of Medicine, Charles University and Motol Hospital, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.pediatrneurol.2016.11.007DOI Listing
February 2017

Structural alterations of the language connectome in children with specific language impairment.

Brain Lang 2015 Dec 21;151:35-41. Epub 2015 Nov 21.

Department of Radiology, Charles University, 2nd Faculty of Medicine, University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.bandl.2015.10.003DOI Listing
December 2015

Nonlinear analysis of the sleep EEG in children with pervasive developmental disorder.

Neuro Endocrinol Lett 2008 Aug;29(4):512-7

Department of Child Psychiatry, Charles University, 2nd Faculty of Medicine, Prague, Czech Republic.

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August 2008

Epileptiform activity in children with developmental dysphasia: quantification of discharges in overnight sleep video-EEG.

Epileptic Disord 2007 Dec;9 Suppl 1:S28-35

Department of Pediatric Neurology, 2nd School of Medicine, Charles University, Prague, Czech Republic.

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http://dx.doi.org/10.1684/epd.2007.0153DOI Listing
December 2007

Postnatal hypobaric hypoxia in rats impairs water maze learning and the morphology of neurones and macroglia in cortex and hippocampus.

Behav Brain Res 2003 May;141(2):195-205

Department of Neuroscience, Center for Cell Therapy and Tissue Repair, Charles University, Second Medical Faculty, 150 18 Prague 5, Czech Republic.

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http://dx.doi.org/10.1016/s0166-4328(02)00366-2DOI Listing
May 2003