Publications by authors named "Ulrike B S Hedrich"

22Publications

SCN2A channelopathies: Mechanisms and models.

Epilepsia 2019 12;60 Suppl 3:S68-S76

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

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http://dx.doi.org/10.1111/epi.14731DOI Listing
December 2019

Novel treatment approaches and pediatric research networks in status epilepticus.

Epilepsy Behav 2019 12 8;101(Pt B):106564. Epub 2019 Nov 8.

Boston Children's Hospital & Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2019.106564DOI Listing
December 2019

[Epileptogenesis and consequences for treatment].

Nervenarzt 2019 Aug;90(8):773-780

Abteilung Neurologie mit Schwerpunkt Epileptologie, Hertie-Institut für klinische Hirnforschung, Universität Tübingen, Hoppe Seyler Straße 3, 72076, Tübingen, Deutschland.

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http://dx.doi.org/10.1007/s00115-019-0749-8DOI Listing
August 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2019 Mar;104(3):562

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http://dx.doi.org/10.1016/j.ajhg.2019.02.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6407522PMC
March 2019

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Authors:
Katherine L Helbig Robert J Lauerer Jacqueline C Bahr Ivana A Souza Candace T Myers Betül Uysal Niklas Schwarz Maria A Gandini Sun Huang Boris Keren Cyril Mignot Alexandra Afenjar Thierry Billette de Villemeur Delphine Héron Caroline Nava Stéphanie Valence Julien Buratti Christina R Fagerberg Kristina P Soerensen Maria Kibaek Erik-Jan Kamsteeg David A Koolen Boudewijn Gunning H Jurgen Schelhaas Michael C Kruer Jordana Fox Somayeh Bakhtiari Randa Jarrar Sergio Padilla-Lopez Kristin Lindstrom Sheng Chih Jin Xue Zeng Kaya Bilguvar Antigone Papavasileiou Qinghe Xing Changlian Zhu Katja Boysen Filippo Vairo Brendan C Lanpher Eric W Klee Jan-Mendelt Tillema Eric T Payne Margot A Cousin Teresa M Kruisselbrink Myra J Wick Joshua Baker Eric Haan Nicholas Smith Azita Sadeghpour Erica E Davis Nicholas Katsanis Mark A Corbett Alastair H MacLennan Jozef Gecz Saskia Biskup Eva Goldmann Lance H Rodan Elizabeth Kichula Eric Segal Kelly E Jackson Alexander Asamoah David Dimmock Julie McCarrier Lorenzo D Botto Francis Filloux Tatiana Tvrdik Gregory D Cascino Sherry Klingerman Catherine Neumann Raymond Wang Jessie C Jacobsen Melinda A Nolan Russell G Snell Klaus Lehnert Lynette G Sadleir Britt-Marie Anderlid Malin Kvarnung Renzo Guerrini Michael J Friez Michael J Lyons Jennifer Leonhard Gabriel Kringlen Kari Casas Christelle M El Achkar Lacey A Smith Alexander Rotenberg Annapurna Poduri Alba Sanchis-Juan Keren J Carss Julia Rankin Adam Zeman F Lucy Raymond Moira Blyth Bronwyn Kerr Karla Ruiz Jill Urquhart Imelda Hughes Siddharth Banka Ulrike B S Hedrich Ingrid E Scheffer Ingo Helbig Gerald W Zamponi Holger Lerche Heather C Mefford

Am J Hum Genet 2018 11 18;103(5):666-678. Epub 2018 Oct 18.

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

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https://linkinghub.elsevier.com/retrieve/pii/S00029297183031
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http://dx.doi.org/10.1016/j.ajhg.2018.09.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216110PMC
November 2018

Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsies.

Hum Mutat 2018 12 13;39(12):1942-1956. Epub 2018 Sep 13.

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

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http://dx.doi.org/10.1002/humu.23619DOI Listing
December 2018

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

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http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

Reply.

Ann Neurol 2017 02;81(2):328-329

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

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http://dx.doi.org/10.1002/ana.24856DOI Listing
February 2017

An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.

Epilepsia 2013 Sep 12;54(9):e117-21. Epub 2013 Jun 12.

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

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http://dx.doi.org/10.1111/epi.12241DOI Listing
September 2013

Gastric and pyloric motor pattern control by a modulatory projection neuron in the intact crab Cancer pagurus.

J Neurophysiol 2011 Apr 16;105(4):1671-80. Epub 2011 Feb 16.

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

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http://dx.doi.org/10.1152/jn.01105.2010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3090311PMC
April 2011

Differential activation of projection neurons by two sensory pathways contributes to motor pattern selection.

J Neurophysiol 2009 Nov 9;102(5):2866-79. Epub 2009 Sep 9.

Institute of Neurobiology, Ulm University, D-89069 Ulm, Germany.

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http://dx.doi.org/10.1152/jn.00618.2009DOI Listing
November 2009

Regulation of motor pattern frequency by reversals in proprioceptive feedback.

Eur J Neurosci 2008 Aug;28(3):460-74

Institute of Neurobiology, Ulm University, D-89069 Ulm, Germany.

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http://dx.doi.org/10.1111/j.1460-9568.2008.06357.xDOI Listing
August 2008

Characterization of a descending pathway: activation and effects on motor patterns in the brachyuran crustacean stomatogastric nervous system.

J Exp Biol 2008 Aug;211(Pt 16):2624-37

Institute of Neurobiology, Ulm University, D-89069 Ulm, Germany.

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http://dx.doi.org/10.1242/jeb.019711DOI Listing
August 2008

Motor pattern selection by nitric oxide in the stomatogastric nervous system of the crab.

Eur J Neurosci 2005 May;21(10):2767-81

Abteilung Neurobiologie, Universität Ulm, D-89069 Ulm, Germany.

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http://dx.doi.org/10.1111/j.1460-9568.2005.04117.xDOI Listing
May 2005