Sarah von Spiczak

Sarah von Spiczak

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Sarah von Spiczak

Sarah von Spiczak

Publications by authors named "Sarah von Spiczak"

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46Publications

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Genetic heterogeneity in infantile spasms.

Epilepsy Res 2019 Oct 29;156:106181. Epub 2019 Jul 29.

Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2019.106181DOI Listing
October 2019

Seizure management and prescription patterns of anticonvulsants in Dravet syndrome: A multicenter cohort study from Germany and review of literature.

Epilepsy Behav 2019 Sep 10;98(Pt A):88-95. Epub 2019 Jul 10.

Epilepsy Center Frankfurt Rhine-Main and Department of Neurology, Goethe-University Frankfurt, Frankfurt am Main, Germany; LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University Frankfurt, Frankfurt am Main, Germany; Epilepsy Center Hessen and Department of Neurology, Philipps-University Marburg, Marburg (Lahn), Germany. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2019.06.021DOI Listing
September 2019

Burden-of-illness and cost-driving factors in Dravet syndrome patients and carers: A prospective, multicenter study from Germany.

Eur J Paediatr Neurol 2019 May 28;23(3):392-403. Epub 2019 Feb 28.

Epilepsy Center Frankfurt Rhine-Main and Department of Neurology, Goethe-University, Frankfurt am Main, Germany; LOEWE Center for Personalized Translational Epilepsy Research (CePTER), Goethe-University, Frankfurt am Main, Germany; Department of Neuropediatrics, Goethe-University Frankfurt, Frankfurt am Main, Germany.

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http://dx.doi.org/10.1016/j.ejpn.2019.02.014DOI Listing
May 2019

The role of genetic testing in epilepsy diagnosis and management.

Expert Rev Mol Diagn 2017 08 26;17(8):739-750. Epub 2017 Jun 26.

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

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http://dx.doi.org/10.1080/14737159.2017.1335598DOI Listing
August 2017

In response: Neuronal networks in epileptic encephalopathies with CSWS.

Epilepsia 2017 07;58(7):1297-1298

Department of Medical Psychology and Medical Sociology, Christian-Albrechts-University, Kiel, Germany.

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http://dx.doi.org/10.1111/epi.13788DOI Listing
July 2017

Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern.

Epilepsy Res 2017 05 28;132:84-90. Epub 2017 Feb 28.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel University, Kiel, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2017.02.008DOI Listing
May 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

Neuronal networks in epileptic encephalopathies with CSWS.

Epilepsia 2016 08 15;57(8):1245-55. Epub 2016 Jun 15.

Department of Medical Psychology and Medical Sociology, Christian-Albrechts-University, Kiel, Germany.

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http://dx.doi.org/10.1111/epi.13428DOI Listing
August 2016

Investigation of GRIN2A in common epilepsy phenotypes.

Epilepsy Res 2015 Sep 2;115:95-9. Epub 2015 Jun 2.

Division of Human Genetics, University Children's Hospital Inselspital, Bern, Switzerland; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2015.05.010DOI Listing
September 2015

Seizure control in a patient with Dravet syndrome and cystic fibrosis.

Epilepsy Behav Case Rep 2013 29;1:42-4. Epub 2013 Mar 29.

Department of Neurology, Christian-Albrechts-University of Kiel, Arnold-Heller-Str. 3, Haus 41, 24105 Kiel, Germany.

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http://dx.doi.org/10.1016/j.ebcr.2013.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150651PMC
February 2015

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.

Neurology 2014 Apr 12;82(14):1245-53. Epub 2014 Mar 12.

From the Division of Genetic Medicine, Department of Pediatrics (G.L.C., C.H., J.C., E.G., H.C.M.), and the Department of Genome Sciences (J.S.), University of Washington, Seattle; Neurogenetics Group (S.W.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Epilepsy Research Centre (J.M.M., S.F.B., I.E.S.), Department of Medicine, University of Melbourne, Austin Health, Australia; Department of Neuropediatrics (C.H., H.M., S.v.S., I.H.), University Medical Center, Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany; Danish Epilepsy Centre (R.S.M., H.H., M.N.), Dianalund; Institute for Regional Health Services (H.H., M.N.), University of Southern Denmark, Odense, Denmark; Department of Molecular and Medical Genetics (B.J.O.), Oregon Health and Science University, Portland; Florey Institute (S.P., A.C., E.V.G., I.E.S.), Victoria; TY Nelson Department of Neurology (D.G.), The Children's Hospital at Westmead, Sydney, NSW, Australia; Department of Paediatrics (L.G.S.), School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand; Epilepsy Research Program (B.L.H., L.M.D.), School of Pharmacy and Medical Sciences, University of South Australia, Adelaide; Division of Neurology (P.D.J.), Antwerp University Hospital, Belgium; and the Department of Paediatrics (I.E.S.), University of Melbourne, Royal Children's Hospital, Australia.

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http://www.washington.edu/medicine/pediatrics/meflab/doc/201
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000029
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http://dx.doi.org/10.1212/WNL.0000000000000291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4001207PMC
April 2014

Iterative phenotyping of 15q11.2, 15q13.3 and 16p13.11 microdeletion carriers in pediatric epilepsies.

Epilepsy Res 2014 Jan 26;108(1):109-16. Epub 2013 Oct 26.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH, Campus Kiel), Kiel, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2013.10.001DOI Listing
January 2014

CDKL5 mutations as a cause of severe epilepsy in infancy: clinical and electroencephalographic long-term course in 4 patients.

J Child Neurol 2013 Jul 25;28(7):937-41. Epub 2012 Jul 25.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein (UKSH), Kiel, Germany.

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http://journals.sagepub.com/doi/10.1177/0883073812451497
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http://dx.doi.org/10.1177/0883073812451497DOI Listing
July 2013

The role of SLC2A1 in early onset and childhood absence epilepsies.

Epilepsy Res 2013 Jul 8;105(1-2):229-33. Epub 2013 Jan 8.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.

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http://dx.doi.org/10.1016/j.eplepsyres.2012.11.004DOI Listing
July 2013

Variability of EEG-fMRI findings in patients with SCN1A-positive Dravet syndrome.

Epilepsia 2013 May 8;54(5):918-26. Epub 2013 Feb 8.

Department of Neuropediatrics, Christian-Albrechts-University, Kiel, Germany.

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http://dx.doi.org/10.1111/epi.12119DOI Listing
May 2013

Myoclonic astatic epilepsy (Doose syndrome) - a lamotrigine responsive epilepsy?

Eur J Paediatr Neurol 2013 Jan 16;17(1):29-35. Epub 2012 Nov 16.

Department of Pediatric Neurology, Christian-Albrechts-University, Kiel, Germany.

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http://dx.doi.org/10.1016/j.ejpn.2012.10.006DOI Listing
January 2013

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Hum Mol Genet 2012 Dec 4;21(24):5359-72. Epub 2012 Sep 4.

Institute for Medical Biometry, Informatic and Epidemiology, University of Bonn, Bonn, Germany.

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http://hmg.oxfordjournals.org/content/21/24/5359.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds373
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http://dx.doi.org/10.1093/hmg/dds373DOI Listing
December 2012

Absence seizures with intellectual disability as a phenotype of the 15q13.3 microdeletion syndrome.

Epilepsia 2011 Dec 2;52(12):e194-8. Epub 2011 Nov 2.

Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03301.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3270691PMC
December 2011

Comprehensive analysis of candidate genes for photosensitivity using a complementary bioinformatic and experimental approach.

Epilepsia 2011 Oct 29;52(10):e143-7. Epub 2011 Aug 29.

Department of Neuropediatrics, Christian-Albrechts-University Kiel and University Medical Center Schleswig-Holstein, Campus Kiel, Kiel, Germany.

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http://doi.wiley.com/10.1111/j.1528-1167.2011.03197.x
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http://dx.doi.org/10.1111/j.1528-1167.2011.03197.xDOI Listing
October 2011

A retrospective population-based study on seizures related to childhood vaccination.

Epilepsia 2011 Aug 21;52(8):1506-12. Epub 2011 Jun 21.

Department of Neuropediatrics, Christian-Albrechts-University Kiel and University Medical Centre Schleswig-Holstein, Kiel, Germany.

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http://dx.doi.org/10.1111/j.1528-1167.2011.03134.xDOI Listing
August 2011

Association study of TRPC4 as a candidate gene for generalized epilepsy with photosensitivity.

Neuromolecular Med 2010 Sep 24;12(3):292-9. Epub 2010 Jun 24.

Department of Neuropediatrics, University Hospital Schleswig-Holstein, Campus Kiel, Arnold-Heller-Str.3, Building 9, Kiel, Germany.

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http://dx.doi.org/10.1007/s12017-010-8122-xDOI Listing
September 2010

Intermittent inotrope infusion for end stage heart failure in Duchenne muscular dystrophy.

Neuromuscul Disord 2008 Dec 25;18(12):1005-6; author reply 1006. Epub 2008 Oct 25.

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http://dx.doi.org/10.1016/j.nmd.2008.09.002DOI Listing
December 2008

The role of opioids in restless legs syndrome: an [11C]diprenorphine PET study.

Brain 2005 Apr 23;128(Pt 4):906-17. Epub 2005 Feb 23.

Division of Neuroscience and MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College, London, UK.

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http://dx.doi.org/10.1093/brain/awh441DOI Listing
April 2005

Opioid binding in DYT1 primary torsion dystonia: an 11C-diprenorphine PET study.

Mov Disord 2004 Dec;19(12):1498-503

Division of Neuroscience and MRC Clinical Sciences Centre, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.20238DOI Listing
December 2004