Steffen Syrbe

Steffen Syrbe

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Steffen Syrbe

Steffen Syrbe

Publications by authors named "Steffen Syrbe"

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Parental mosaicism in epilepsies due to alleged de novo variants.

Epilepsia 2019 Jun 11;60(6):e63-e66. Epub 2019 May 11.

Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.

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http://dx.doi.org/10.1111/epi.15187DOI Listing
June 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 Jun 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Sweaty feet in adolescents-Early use of botulinum type A toxin in juvenile plantar hyperhidrosis.

Pediatr Dermatol 2018 Nov 4;35(6):784-786. Epub 2018 Sep 4.

Hospital for Children and Adolescents, University of Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1111/pde.13628DOI Listing
November 2018

The primate fovea: Structure, function and development.

Prog Retin Eye Res 2018 09 30;66:49-84. Epub 2018 Mar 30.

Paul Flechsig Institute of Brain Research, Medical Faculty, University of Leipzig, 04103 Leipzig, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.preteyeres.2018.03.006DOI Listing
September 2018

Müller glial cells of the primate foveola: An electron microscopical study.

Exp Eye Res 2018 02 11;167:110-117. Epub 2017 Dec 11.

Paul Flechsig Institute of Brain Research, University of Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1016/j.exer.2017.12.004DOI Listing
February 2018

How do Parents Perceive the Initial Medical Consultation on their Child's Developmental Disorder?

Klin Padiatr 2018 01 19;230(1):44-49. Epub 2017 Dec 19.

Klinik und Poliklinik für Kinder und Jugendliche, Zentrum für pädiatrische Forschung, Universitätsklinikum Leipzig.

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http://dx.doi.org/10.1055/s-0043-117960DOI Listing
January 2018

[Interdisciplinary Concepts of Paediatrics and Clinical Pharmacy to Optimise Anticonvulsant Treatment].

Klin Padiatr 2018 01 19;230(1):5-12. Epub 2017 Dec 19.

Klinik und Poliklinik für Kinder und Jugendliche, Zentrum für pädiatrische Forschung, Universitätsklinikum Leipzig.

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http://dx.doi.org/10.1055/s-0043-120525DOI Listing
January 2018

Seizure disorders and developmental disorders: impact on life of affected families-a structured interview.

Eur J Pediatr 2017 Aug 9;176(8):1121-1129. Epub 2017 Jul 9.

Center for Pediatric Research, University Hospital for Children and Adolescents, Liebigstraße 20a, 04103, Leipzig, Germany.

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http://dx.doi.org/10.1007/s00431-017-2958-0DOI Listing
August 2017

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.

Mol Genet Metab Rep 2017 Mar 1;10:1-4. Epub 2016 Dec 1.

Hospital for Children and Adolescents, Centre for Pediatric Research Leipzig (CPL), Department of Women and Child Health, University Hospitals, University of Leipzig, Liebigstraße 20 a, 04103 Leipzig, Germany.

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https://linkinghub.elsevier.com/retrieve/pii/S22144269163007
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http://dx.doi.org/10.1016/j.ymgmr.2016.11.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5137178PMC
March 2017

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

Neurology 2017 01 4;88(5):483-492. Epub 2017 Jan 4.

From the Danish Epilepsy Centre (R.S.M., K.M.J., M.N.), Dianalund; Institute for Regional Health Services (R.S.M., K.M.J., M.N.), University of Southern Denmark, Odense; Department of Neurology and Epileptology (T.V.W., S.V., H.L., S.M.), Hertie Institute for Clinical Brain Research, and Department of Neurosurgery (T.V.W.), University of Tübingen; Department of Neuropediatrics (I.H., M.P., S.v.S., H.M.), University Medical Center Schleswig-Holstein, Kiel, Germany; Division of Neurology (I.H., S.H., H.D.), The Children's Hospital of Philadelphia, PA; Neuroscience Department (C.M., R.G.), Children's Hospital Anna Meyer-University of Florence, Italy; Department of Genetics (E.H.B., M.S., K.L.v.G.), University Medical Center Utrecht, the Netherlands; Department of Neurology and Neurorehabilitation (U.V., I.T., T.T.), Children's Clinic of Tartu University Hospital, Estonia; Department of Pediatric Neurology and Epilepsy Center (I.B.), LMU Munich, Germany; Department of Pediatrics (I.T., T.T.), University of Tartu; Tallinn Children's Hospital (I.T.), Tallinn, Estonia; Clinic for Neuropediatrics and Neurorehabilitation (G.K., C.B., H.H.), Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Germany; Paracelsus Medical Private University (G.K.), Salzburg, Austria; Neuropeadiatric Department (L.L.F.), Hospices Civils de Lyon; Department of Genetics (G.L., N.C.), Lyon University Hospitals; Claude Bernard Lyon I University (G.L., N.C.); Lyon Neuroscience Research Centre (G.L., N.C.), CNRS UMR5292, INSERM U1028; Epilepsy, Sleep and Pediatric Neurophysiology Department (J.d.B.), Lyon University Hospitals, France; Clinic for Pediatric Neurology (S.B.), Pediatric Department, University Hospital, Herlev, Denmark; Kleinwachau (N.H.), Sächsisches Epilepsiezentrum Radeberg, Dresden; Department of Neuropediatrics/Epilepsy Center (J.J.), University Medical Center Freiburg; Department of General Paediatrics (S.S.), Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg; Department of Women and Child Health (S.S.), Hospital for Children and Adolescents, University of Leipzig Hospitals and Clinics, Germany; Department of Pediatrics (C.T.M., H.C.M.), Division of Genetic Medicine, University of Washington, Seattle; Amplexa Genetics (L.H.G.L., H.A.D.), Odense, Denmark; Northern German Epilepsy Center for Children and Adolescents (S.v.S.), Schwentinental-Raisdorf, Germany; Wilhelm Johannsen Centre for Functional Genome Research (Y.M., N.T.), Department of Cellular and Molecular Medicine, University of Copenhagen; Danish Epilepsy Center (G.R.), Filadelfia/University of Copenhagen, Denmark; Department of Diagnostics (J.R.L.), Institute of Human Genetics, University of Leipzig; and Svt. Luka's Institute of Child Neurology and Epilepsy (K.M.), Moscow, Russia. Dr Maljevic is currently at the Florey Institute of Neuroscience and Mental Health, Melbourne, Australia.

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http://dx.doi.org/10.1212/WNL.0000000000003565DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5278942PMC
January 2017

Novel Mutation in a Large Family with Benign Familial Neonatal Epilepsy: A Rare Cause of Neonatal Seizures.

Mol Syndromol 2016 Sep 7;7(4):189-196. Epub 2016 Jul 7.

Department of Women and Child Health, Hospital for Children and Adolescents, Heidelberg, Germany; Division of Child Neurology and Inherited Metabolic Diseases, Department of General Pediatrics, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.

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https://www.karger.com/Article/FullText/447461
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http://dx.doi.org/10.1159/000447461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073621PMC
September 2016

Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome.

Mol Syndromol 2016 Sep 24;7(4):239-246. Epub 2016 Aug 24.

Institute of Human Genetics, University Hospital and Clinics, Leipzig, Germany.

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http://dx.doi.org/10.1159/000448445DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073659PMC
September 2016

Reply.

Ann Neurol 2016 07 10;80(1):168-9. Epub 2016 May 10.

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.

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http://dx.doi.org/10.1002/ana.24669DOI Listing
July 2016

Epilepsy in children and adolescents: Disease concepts, practical knowledge, and coping.

Epilepsy Behav 2016 06 23;59:77-82. Epub 2016 Apr 23.

University Hospital for Children and Adolescents, Centre for Paediatric Research, Liebigstraße 20a, 04103 Leipzig, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2016.03.033DOI Listing
June 2016

Use of complementary and alternative medicine (CAM) by parents in their children and adolescents with epilepsy - Prevelance, predictors and parents' assessment.

Eur J Paediatr Neurol 2016 Jan 10;20(1):11-9. Epub 2015 Nov 10.

University Hospital for Children and Adolescents, Centre for Paediatric Research, Liebigstr. 20a, 04103 Leipzig, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.11.003DOI Listing
January 2016

Oral Everolimus for Treatment of a Giant Left Ventricular Rhabdomyoma in a Neonate-Rapid Tumor Regression Documented by Real Time 3D Echocardiography.

Echocardiography 2015 Dec 22;32(12):1876-9. Epub 2015 Jul 22.

Department of Pediatric Cardiology, University of Leipzig, Heart Center, Leipzig, Germany.

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http://dx.doi.org/10.1111/echo.13015DOI Listing
December 2015

Opsoclonus-myoclonus syndrome after adenovirus infection.

Springerplus 2015 23;4:636. Epub 2015 Oct 23.

Paul Flechsig Institute for Brain Research, University of Leipzig, Liebigstr. 19, 04103 Leipzig, Germany.

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http://dx.doi.org/10.1186/s40064-015-1429-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628014PMC
November 2015

Epileptic Encephalopathies in Childhood: The Role of Genetic Testing.

Semin Neurol 2015 Jun 10;35(3):310-22. Epub 2015 Jun 10.

Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1055/s-0035-1552623DOI Listing
June 2015

Wide spectrum of clinical manifestations in children with tuberous sclerosis complex--follow-up of 20 children.

Brain Dev 2014 Apr 14;36(4):306-14. Epub 2013 Jun 14.

Department of Women and Child Health, Hospital for Children and Adolescents, University of Leipzig, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.braindev.2013.05.006DOI Listing
April 2014

Dimenhydrinate in children with infectious gastroenteritis: a prospective, RCT.

Pediatrics 2009 Oct 14;124(4):e622-32. Epub 2009 Sep 14.

Section of Pediatric Gastroenterology, University Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany.

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http://dx.doi.org/10.1542/peds.2008-1650DOI Listing
October 2009

A missense mutation in the ZFHX1B gene associated with an atypical Mowat-Wilson syndrome phenotype.

Am J Med Genet A 2006 Jun;140(11):1223-7

Institute of Human Genetics, University of Leipzig--Medical Faculty, Leipzig, Germany.

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http://dx.doi.org/10.1002/ajmg.a.31267DOI Listing
June 2006