Joerg Klepper

Joerg Klepper

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Joerg Klepper

Joerg Klepper

Publications by authors named "Joerg Klepper"

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Ketogenic Diets in the Treatment of Epilepsy.

Curr Pharm Des 2017 ;23(37):5691-5701

Hannover Medical School, Clinic for Pediatric Kidney, Liver and Metabolic Diseases, Hannover, Germany.

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http://www.eurekaselect.com/154780/article
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http://dx.doi.org/10.2174/1381612823666170809101517DOI Listing
July 2019

10 patients, 10 years - Long term follow-up of cardiovascular risk factors in Glut1 deficiency treated with ketogenic diet therapies: A prospective, multicenter case series.

Clin Nutr 2018 Dec 11;37(6 Pt A):2246-2251. Epub 2017 Nov 11.

Children's Hospital Aschaffenburg-Alzenau, Department of Pediatrics and Neuropediatrics, Am Hasenkopf 1, 63739 Aschaffenburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.clnu.2017.11.001DOI Listing
December 2018

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome.

Eur J Hum Genet 2017 06 5;25(6):771-774. Epub 2017 Apr 5.

Department of Human Genetics, Donders Centre for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2017.45DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5477372PMC
June 2017

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

Ketogenic diet guidelines for infants with refractory epilepsy.

Eur J Paediatr Neurol 2016 Nov 17;20(6):798-809. Epub 2016 Jul 17.

UCL Institute of Child Health, Great Ormond Street Hospital for Children NHS Trust, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.07.009DOI Listing
November 2016

Paroxysmal Nonepileptic Events in Glut1 Deficiency.

Mov Disord Clin Pract 2016 Nov-Dec;3(6):607-610. Epub 2016 Jul 8.

Department of Pediatrics and Neuropediatrics Children's Hospital Aschaffenburg-Alzenau Aschaffenburg Germany.

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http://dx.doi.org/10.1002/mdc3.12387DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5157724PMC
July 2016

Severe Hypertriglyceridemia in Glut1D on Ketogenic Diet.

Neuropediatrics 2016 Apr 22;47(2):132-6. Epub 2016 Feb 22.

Children's Hospital Klinikum Fürth, Fürth, Germany.

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http://dx.doi.org/10.1055/s-0036-1572413DOI Listing
April 2016

GLUT1 deficiency syndrome and ketogenic diet therapies: missing rare but treatable diseases?

Authors:
Joerg Klepper

Dev Med Child Neurol 2015 Oct 22;57(10):896-7. Epub 2015 May 22.

Department of Pediatrics, Klinikum Aschaffenburg, Aschaffenburg, Germany.

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http://dx.doi.org/10.1111/dmcn.12807DOI Listing
October 2015

Glucide metabolism disorders (excluding glycogen myopathies).

Authors:
Joerg Klepper

Handb Clin Neurol 2013 ;113:1689-94

Children's Hospital Aschaffenburg, Aschaffenburg, Germany. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00036-8DOI Listing
March 2014

Child neurology: differential diagnosis of a low CSF glucose in children and young adults.

Neurology 2013 Dec;81(24):e178-81

From the Department of Neurology (W.G.L., B.G.E., M.M.V.) and Department of Pediatric Neurology (M.A.W.), Radboud University Medical Centre, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, the Netherlands; Department of Pediatrics (C.J.d.W.), Genetics (E.J.K.), and Laboratory Medicine (M.M.V., R.A.W.), Radboud University Medical Centre, Nijmegen, the Netherlands; and Department of Pediatrics and Pediatric Neurology (J.K.), Children's Hospital, Aschaffenburg, Germany.

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http://dx.doi.org/10.1212/01.wnl.0000437294.20817.99DOI Listing
December 2013

Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome.

Authors:
Joerg Klepper

Neuropediatrics 2013 Aug 12;44(4):235-6. Epub 2013 Mar 12.

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0033-1336015
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http://dx.doi.org/10.1055/s-0033-1336015DOI Listing
August 2013

Glut1 deficiency syndrome and novel ketogenic diets.

J Child Neurol 2013 Aug 10;28(8):1045-8. Epub 2013 May 10.

Children's Hospital Aschaffenburg, Am Hasenkopf, Aschaffenburg, Germany.

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http://journals.sagepub.com/doi/10.1177/0883073813487600
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http://dx.doi.org/10.1177/0883073813487600DOI Listing
August 2013

GLUT-1 deficiency syndrome in Norway--yet another piece of the puzzle.

Authors:
Joerg Klepper

Dev Med Child Neurol 2013 May 1;55(5):400-1. Epub 2013 Mar 1.

Department of Pediatrics and Neuropediatrics, Klinikum Aschaffenburg, Aschaffenburg, Germany.

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http://doi.wiley.com/10.1111/dmcn.12104
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http://dx.doi.org/10.1111/dmcn.12104DOI Listing
May 2013

Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome.

Neuropediatrics 2012 Oct 13;43(5):275-8. Epub 2012 Sep 13.

Department of Integrative Pediatric Medicine, Gemeinschaftskrankenhaus, Herdecke, Germany.

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http://dx.doi.org/10.1055/s-0032-1324399DOI Listing
October 2012

GLUT1 deficiency syndrome in clinical practice.

Authors:
Joerg Klepper

Epilepsy Res 2012 Jul 5;100(3):272-7. Epub 2011 Mar 5.

Childrens' Hospital Aschaffenburg, Am Hasenkopf, D-63739 Aschaffenburg, Germany.

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http://dx.doi.org/10.1016/j.eplepsyres.2011.02.007DOI Listing
July 2012

Glucose transporter type 1 deficiency syndrome with carbohydrate-responsive symptoms but without epilepsy.

Dev Med Child Neurol 2011 Dec 12;53(12):1154-6. Epub 2011 Aug 12.

Department of General Paediatrics, University Children's Hospital, Düsseldorf, Germany.

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http://dx.doi.org/10.1111/j.1469-8749.2011.04082.xDOI Listing
December 2011

Video/EEG recording of myoclonic absences in GLUT1 deficiency syndrome with a hot-spot R126C mutation in the SLC2A1 gene.

Epilepsy Behav 2011 Jun 4;21(2):200-2. Epub 2011 May 4.

Child Neurology Division, Pediatrics Department, Ege University Faculty of Medicine, Bornova, İzmir, Turkey.

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https://linkinghub.elsevier.com/retrieve/pii/S15255050110013
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http://dx.doi.org/10.1016/j.yebeh.2011.03.027DOI Listing
June 2011

Refractory absence epilepsy associated with GLUT-1 deficiency syndrome.

Epilepsia 2011 May 2;52(5):1021-4. Epub 2011 Mar 2.

Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.

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http://dx.doi.org/10.1111/j.1528-1167.2011.02989.xDOI Listing
May 2011

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

Authors:
Gillian Rice Teresa Patrick Rekha Parmar Claire F Taylor Alec Aeby Jean Aicardi Rafael Artuch Simon Attard Montalto Carlos A Bacino Bruno Barroso Peter Baxter Willam S Benko Carsten Bergmann Enrico Bertini Roberta Biancheri Edward M Blair Nenad Blau David T Bonthron Tracy Briggs Louise A Brueton Han G Brunner Christopher J Burke Ian M Carr Daniel R Carvalho Kate E Chandler Hans-Jurgen Christen Peter C Corry Frances M Cowan Helen Cox Stefano D'Arrigo John Dean Corinne De Laet Claudine De Praeter Catherine Dery Colin D Ferrie Kim Flintoff Suzanna G M Frints Angels Garcia-Cazorla Blanca Gener Cyril Goizet Francoise Goutieres Andrew J Green Agnes Guet Ben C J Hamel Bruce E Hayward Arvid Heiberg Raoul C Hennekam Marie Husson Andrew P Jackson Rasieka Jayatunga Yong-Hui Jiang Sarina G Kant Amy Kao Mary D King Helen M Kingston Joerg Klepper Marjo S van der Knaap Andrew J Kornberg Dieter Kotzot Wilfried Kratzer Didier Lacombe Lieven Lagae Pierre Georges Landrieu Giovanni Lanzi Andrea Leitch Ming J Lim John H Livingston Charles M Lourenco E G Hermione Lyall Sally A Lynch Michael J Lyons Daphna Marom John P McClure Robert McWilliam Serge B Melancon Leena D Mewasingh Marie-Laure Moutard Ken K Nischal John R Ostergaard Julie Prendiville Magnhild Rasmussen R Curtis Rogers Dominique Roland Elisabeth M Rosser Kevin Rostasy Agathe Roubertie Amparo Sanchis Raphael Schiffmann Sabine Scholl-Burgi Sunita Seal Stavit A Shalev C Sierra Corcoles Gyan P Sinha Doriette Soler Ronen Spiegel John B P Stephenson Uta Tacke Tiong Yang Tan Marianne Till John L Tolmie Pam Tomlin Federica Vagnarelli Enza Maria Valente Rudy N A Van Coster Nathalie Van der Aa Adeline Vanderver Johannes S H Vles Thomas Voit Evangeline Wassmer Bernhard Weschke Margo L Whiteford Michel A A Willemsen Andreas Zankl Sameer M Zuberi Simona Orcesi Elisa Fazzi Pierre Lebon Yanick J Crow

Am J Hum Genet 2007 Oct 4;81(4):713-25. Epub 2007 Sep 4.

Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, LS9 7TF, UK.

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http://dx.doi.org/10.1086/521373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2227922PMC
October 2007

GLUT1 deficiency syndrome--2007 update.

Dev Med Child Neurol 2007 Sep;49(9):707-16

Children's Hospital, Aschaffenburg, Germany.

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http://dx.doi.org/10.1111/j.1469-8749.2007.00707.xDOI Listing
September 2007