von Spiczak, Sarah: search on Z-Library

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1

The role of genetic testing in epilepsy diagnosis and management

Weber, Yvonne G., Biskup, Saskia, Helbig, Katherine L., von Spiczak, Sarah, Lerche, Holger

Journal:

Expert Review of Molecular Diagnostics

Year:

2017

Language:

english

File:

PDF, 2.13 MB

english, 2017

2

Fenfluramin: serotoninerge Therapie bei Epilepsien von Kindern und Jugendlichen; Fenfluramine: serotonergic treatment of epilepsy in children and adolescents;

Stephani, Ulrich, Lehmann, Irene, von Spiczak, Sarah, Polster, Tilman, Muhle, Hiltrud

Journal:

Zeitschrift für Epileptologie

Year:

2019

Language:

german

File:

PDF, 296 KB

german, 2019

3

DNM1 encephalopathy

von Spiczak, Sarah, Helbig, Katherine L., Shinde, Deepali N., Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E., Sarco, Dean P., Kaplan, Richard A., Dlugos, Dennis J., Kirsch, He

Journal:

Year:

2017

Language:

english

File:

PDF, 556 KB

english, 2017

4

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

Alan L. Whone, Sarah Von Spiczak, Mark Edwards, Enza-Maria Valente, Alexander Hammers, Kailash P. Bhatia, David J. Brooks

Journal:

Movement Disorders

Year:

2004

Language:

english

File:

PDF, 138 KB

english, 2004

5

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

Hiltrud Muhle, Heather C. Mefford, Tanja Obermeier, Sarah von Spiczak, Evan E. Eichler, Ulrich Stephani, Thomas Sander, Ingo Helbig

Journal:

Year:

2011

Language:

english

File:

PDF, 358 KB

english, 2011

6

Non-response to antiepileptic pharmacotherapy is associated with the ABCC2 −24C>T polymorphism in young and adult patients with epilepsy

Ufer, Mike, Mosyagin, Igor, Muhle, Hiltrud, Jacobsen, Thies, Haenisch, Sierk, Häsler, Robert, Faltraco, Frank, Remmler, Cornelia, von Spiczak, Sarah, Kroemer, Heyo K., Runge, Uwe, Boor, Rainer, Stepha

Journal:

Pharmacogenetics and Genomics

Year:

2009

Language:

english

File:

PDF, 179 KB

english, 2009

7

Therapie des Dravet-Syndroms; Treatment of Dravet syndrome;

von Spiczak, Sarah, Stephani, Ulrich

Journal:

Zeitschrift für Epileptologie

Year:

2019

Language:

german

File:

PDF, 1.11 MB

german, 2019

8

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

Schubert-Bast, Susanne, Wolff, Markus, Wiemer-Kruel, Adelheid, von Spiczak, Sarah, Trollmann, Regina, Reif, Philipp S., Pritchard, Clive, Polster, Tilman, Neubauer, Bernd A., Mayer, Thomas, Macdonald,

Journal:

Epilepsy & Behavior

Year:

2019

Language:

english

File:

PDF, 813 KB

english, 2019

9

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

Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Gunther Fischer

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 198 KB

english, 2008

10

Neuronal networks in epileptic encephalopathies with CSWS

Japaridze, Natia, Muthuraman, Muthuraman, Dierck, Carina, von Spiczak, Sarah, Boor, Rainer, Mideksa, Kidist G., Anwar, Rauf A., Deuschl, Günther, Stephani, Ulrich, Siniatchkin, Michael

Journal:

Year:

2016

Language:

english

File:

PDF, 1.13 MB

english, 2016

11

Genome-Wide Copy Number Variation in Epilepsy: Novel Susceptibility Loci in Idiopathic Generalized and Focal Epilepsies

Mefford, Heather C., Muhle, Hiltrud, Ostertag, Philipp, von Spiczak, Sarah, Buysse, Karen, Baker, Carl, Franke, Andre, Malafosse, Alain, Genton, Pierre, Thomas, Pierre, Gurnett, Christina A., Schreibe

Journal:

Year:

2010

Language:

english

File:

PDF, 709 KB

english, 2010

12

Role of GRM4 in idiopathic generalized epilepsies analysed by genetic association and sequence analysis

Hiltrud Muhle, Sarah von Spiczak, Verena Gaus, Serife Kara, Ingo Helbig, Jochen Hampe, Andre Franke, Yvonne Weber, Holger Lerche, Ailing A. Kleefuss-Lie, Christian E. Elger, Stefan Schreiber, Ulrich S

Journal:

Epilepsy Research

Year:

2010

Language:

english

File:

PDF, 471 KB

english, 2010

13

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

Sarah von Spiczak, Ingo Helbig, Ursula Drechsel-Baeuerle, Hiltrud Muhle, Andreas van Baalen, Marjan J. van Kempen, Dick Lindhout, Ingrid E. Scheffer, Samuel F. Berkovic, Ulrich Stephani, Brigitte Kell

Journal:

Year:

2011

Language:

english

File:

PDF, 162 KB

english, 2011

14

Genetik epileptischer Enzephalopathien

Wolking, Stefan, von Spiczak, Sarah, Weber, Yvonne G.

Journal:

Zeitschrift für Epileptologie

Year:

2016

Language:

german

File:

PDF, 384 KB

german, 2016

15

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

Larsen, Jan, Johannesen, Katrine Marie, Ek, Jakob, Tang, Shan, Marini, Carla, Blichfeldt, Susanne, Kibaek, Maria, von Spiczak, Sarah, Weckhuysen, Sarah, Frangu, Mimoza, Neubauer, Bernd Axel, Uldall, P

Journal:

Year:

2015

Language:

english

File:

PDF, 173 KB

english, 2015

16

Genotypes and phenotypes of patients with Lafora disease living in Germany

Brenner, David, Baumgartner, Tobias, von Spiczak, Sarah, Lewerenz, Jan, Weis, Roger, Grimmer, Anja, Gaspirova, Petra, Wurster, Claudia D., Kunz, Wolfram S., Wagner, Jan, Minassian, Berge A., Elger, Ch

Journal:

Neurological Research and Practice

Year:

2019

File:

PDF, 614 KB

2019

17

Association Study ofTRPC4as a Candidate Gene for Generalized Epilepsy with Photosensitivity

Sarah von Spiczak, Hiltrud Muhle, Ingo Helbig, Carolien G. F. de Kovel, Jochen Hampe, Verena Gaus, Bobby P. C. Koeleman, Dick Lindhout, Stefan Schreiber, Thomas Sander, Ulrich Stephani

Journal:

NeuroMolecular Medicine

Year:

2010

Language:

english

File:

PDF, 393 KB

english, 2010

18

A retrospective study of the relation between vaccination and occurrence of seizures in Dravet syndrome

Blanca Tro-Baumann, Sarah von Spiczak, Jan Lotte, Thomas Bast, Edda Haberlandt, Robert Sassen, Alfred Freund, Steffen Leiz, Ulrich Stephani, Rainer Boor, Hans Holthausen, Ingo Helbig, Gerhard Kluger

Journal:

Year:

2011

Language:

english

File:

PDF, 62 KB

english, 2011

19

Gene expression analysis in untreated absence epilepsy demonstrates an inconsistent pattern

von Deimling, Markus, Häsler, Robert, Steinbach, Verena, Holterhus, Paul-Martin, von Spiczak, Sarah, Stephani, Ulrich, Helbig, Ingo, Muhle, Hiltrud

Journal:

Epilepsy Research

Year:

2017

Language:

english

File:

PDF, 381 KB

english, 2017

20

iHealth Diaries – how to do it right

Assmann, Mira, Martens, Ulla, Spiczak, Sarah von, Siniatchkin, Michael

Journal:

PiD - Psychotherapie im Dialog

Year:

2018

Language:

german

File:

PDF, 579 KB

german, 2018

21

De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

Suls, Arvid, Jaehn, Johanna A., Kecskés, Angela, Weber, Yvonne, Weckhuysen, Sarah, Craiu, Dana C., Siekierska, Aleksandra, Djémié, Tania, Afrikanova, Tatiana, Gormley, Padhraig, von Spiczak, Sarah, Kl

Journal:

The American Journal of Human Genetics

Year:

2013

Language:

english

File:

PDF, 564 KB

english, 2013

22

Seizure control in a patient with Dravet syndrome and cystic fibrosis

Schmalbach, Barbara, Moeller, Bettina, von Spiczak, Sarah, Muhle, Hiltrud, Stephani, Ulrich, Lang, Nicolas

Journal:

Epilepsy & Behavior Case Reports

Year:

2013

Language:

english

File:

PDF, 359 KB

english, 2013

23

[IEEE 2015 37th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) - Milan (2015.8.25-2015.8.29)] 2015 37th Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) - Analysis of epileptic seizure count time series by ensemble state space modelling

Galka, Andreas, Boor, Rainer, Doege, Corinna, von Spiczak, Sarah, Stephani, Ulrich, Siniatchkin, Michael

Year:

2015

Language:

english

File:

PDF, 1.77 MB

english, 2015

24

[IEEE 2019 41st Annual International Conference of the IEEE Engineering in Medicine & Biology Society (EMBC) - Berlin, Germany (2019.7.23-2019.7.27)] 2019 41st Annual International Conference of the IEEE Engineering in Medicine and Biology Society (EMBC) - SVD Square-root Iterated Extended Kalman Filter for Modeling of Epileptic Seizure Count Time Series with External Inputs

Moontaha, Sidratul, Galka, Andreas, Siniatchkin, Michael, Scharlach, Sascha, von Spiczak, Sarah, Stephani, Ulrich, May, Theodor, Meurer, Thomas

Year:

2019

Language:

english

File:

PDF, 498 KB

english, 2019

25

A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy

Hiltrud Muhle, Ines Steinich, Sarah Von Spiczak, Andre Franke, Yvonne Weber, Holger Lerche, Michael Wittig, Simone Heidemann, Arvid Suls, Peter De Jonghe, Carla Marini, Renzo Guerrini, Ingrid E. Schef

Journal:

Year:

2010

Language:

english

File:

PDF, 252 KB

english, 2010

26

Myoclonic astatic epilepsy (Doose syndrome) – A lamotrigine responsive epilepsy?

Doege, Corinna, May, Theodor W., Siniatchkin, Michael, von Spiczak, Sarah, Stephani, Ulrich, Boor, Rainer

Journal:

European Journal of Paediatric Neurology

Year:

2013

Language:

english

File:

PDF, 276 KB

english, 2013

27

Structural genomic variation in childhood epilepsies with complex phenotypes

Helbig, Ingo, Swinkels, Marielle E M, Aten, Emmelien, Caliebe, Almuth, van 't Slot, Ruben, Boor, Rainer, von Spiczak, Sarah, Muhle, Hiltrud, Jähn, Johanna A, van Binsbergen, Ellen, van Nieuwenhuizen,

Journal:

European Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 275 KB

english, 2014

28

Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis

Hartmann, Corinna, von Spiczak, Sarah, Suls, Arvid, Weckhuysen, Sarah, Buyse, Gunnar, Vilain, Catheline, Van Bogaert, Patrick, De Jonghe, Peter, Cook, Joseph, Muhle, Hiltrud, Stephani, Ulrich, Helbig,

Journal:

Year:

2015

Language:

english

File:

PDF, 419 KB

english, 2015

29

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

Moehring, Jan, von Spiczak, Sarah, Moeller, Friederike, Helbig, Ingo, Wolff, Stephan, Jansen, Olav, Muhle, Hiltrud, Boor, Rainer, Stephani, Ulrich, Siniatchkin, Michael

Journal:

Year:

2013

Language:

english

File:

PDF, 355 KB

english, 2013

30

In response: Neuronal networks in epileptic encephalopathies with CSWS

Japaridze, Natia, Muthuraman, Muthuraman, Dierck, Carina, von Spiczak, Sarah, Stephani, Ulrich, Siniatchkin, Michael

Journal:

Year:

2017

Language:

english

File:

PDF, 154 KB

english, 2017

31

Pitfalls in genetic testing: the story of missed SCN1A mutations

Djémié, Tania, Weckhuysen, Sarah, von Spiczak, Sarah, Carvill, Gemma L., Jaehn, Johanna, Anttonen, Anna-Kaisa, Brilstra, Eva, Caglayan, Hande S., de Kovel, Carolien G., Depienne, Christel, Gaily, Eija

Journal:

Molecular Genetics & Genomic Medicine

Year:

2016

Language:

english

File:

PDF, 98 KB

english, 2016

32

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Helbig, Ingo, Mefford, Heather C, Sharp, Andrew J, Guipponi, Michel, Fichera, Marco, Franke, Andre, Muhle, Hiltrud, de Kovel, Carolien, Baker, Carl, von Spiczak, Sarah

Journal:

Nature Genetics

Year:

2009

Language:

english

File:

PDF, 307 KB

english, 2009

33

Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers

Weckhuysen, Sarah, Holmgren, Philip, Hendrickx, Rik, Jansen, Anna C., Hasaerts, Daniele, Dielman, Charlotte, de Bellescize, Julitta, Boutry-Kryza, Nadia, Lesca, Gaetan, Spiczak, Sarah Von, Helbig, Ing

Journal:

Year:

2013

Language:

english

File:

PDF, 212 KB

english, 2013

34

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

Sarah von Spiczak, Katrin Finsterwalder, Hiltrud Muhle, Andre Franke, Markus Schilhabel, Ulrich Stephani, Ingo Helbig

Journal:

Year:

2011

Language:

english

File:

PDF, 74 KB

english, 2011

35

The role of SLC2A1 in early onset and childhood absence epilepsies

Muhle, Hiltrud, Helbig, Ingo, Frøslev, Tobias Guldberg, Suls, Arvid, von Spiczak, Sarah, Klitten, Laura Line, Dahl, Hans Atli, Brusgaard, Klaus, Neubauer, Bernd, De Jonghe, Peter, Tommerup, Niels, Ste

Journal:

Epilepsy Research

Year:

2013

Language:

english

File:

PDF, 1.99 MB

english, 2013

36

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

Jähn, Johanna A., von Spiczak, Sarah, Muhle, Hiltrud, Obermeier, Tanja, Franke, Andre, Mefford, Heather C., Stephani, Ulrich, Helbig, Ingo

Journal:

Epilepsy Research

Year:

2014

Language:

english

File:

PDF, 613 KB

english, 2014

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