Search Results - "Klepper, Joerg"

GLUT1 deficiency syndrome – 2007 update by Klepper, Joerg, Leiendecker, Baerbel

“…GLUT1 deficiency syndrome (GLUT1DS, OMIM 606777) is a treatable epileptic encephalopathy resulting from impaired glucose transport into the brain. The…”
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Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders by Wolff, Markus, Johannesen, Katrine M, Hedrich, Ulrike B S, Masnada, Silvia, Rubboli, Guido, Gardella, Elena, Lesca, Gaetan, Ville, Dorothée, Milh, Mathieu, Villard, Laurent, Afenjar, Alexandra, Chantot-Bastaraud, Sandra, Mignot, Cyril, Lardennois, Caroline, Nava, Caroline, Schwarz, Niklas, Gérard, Marion, Perrin, Laurence, Doummar, Diane, Auvin, Stéphane, Miranda, Maria J, Hempel, Maja, Brilstra, Eva, Knoers, Nine, Verbeek, Nienke, van Kempen, Marjan, Braun, Kees P, Mancini, Grazia, Biskup, Saskia, Hörtnagel, Konstanze, Döcker, Miriam, Bast, Thomas, Loddenkemper, Tobias, Wong-Kisiel, Lily, Baumeister, Friedrich M, Fazeli, Walid, Striano, Pasquale, Dilena, Robertino, Fontana, Elena, Zara, Federico, Kurlemann, Gerhard, Klepper, Joerg, Thoene, Jess G, Arndt, Daniel H, Deconinck, Nicolas, Schmitt-Mechelke, Thomas, Maier, Oliver, Muhle, Hiltrud, Wical, Beverly, Finetti, Claudio, Brückner, Reinhard, Pietz, Joachim, Golla, Günther, Jillella, Dinesh, Linnet, Karen M, Charles, Perrine, Moog, Ute, Õiglane-Shlik, Eve, Mantovani, John F, Park, Kristen, Deprez, Marie, Lederer, Damien, Mary, Sandrine, Scalais, Emmanuel, Selim, Laila, Van Coster, Rudy, Lagae, Lieven, Nikanorova, Marina, Hjalgrim, Helle, Korenke, G Christoph, Trivisano, Marina, Specchio, Nicola, Ceulemans, Berten, Dorn, Thomas, Helbig, Katherine L, Hardies, Katia, Stamberger, Hannah, de Jonghe, Peter, Weckhuysen, Sarah, Lemke, Johannes R, Krägeloh-Mann, Ingeborg, Helbig, Ingo, Kluger, Gerhard, Lerche, Holger, Møller, Rikke S

“…Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental…”
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Ketogenic Diets in the Treatment of Epilepsy by Elia, Maurizio, Klepper, Joerg, Leiendecker, Baerbel, Hartmann, Hans

“…Although a larger number of antiepileptic drugs became available in the last decades, epilepsy remains drug-resistant in approximately a third of patients…”
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Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group by Kossoff, Eric H, Zupec-Kania, Beth A, Auvin, Stéphane, Ballaban-Gil, Karen R, Christina Bergqvist, A G, Blackford, Robyn, Buchhalter, Jeffrey R, Caraballo, Roberto H, Cross, J Helen, Dahlin, Maria G, Donner, Elizabeth J, Guzel, Orkide, Jehle, Rana S, Klepper, Joerg, Kang, Hoon-Chul, Lambrechts, Danielle A, Liu, Y M Christiana, Nathan, Janak K, Nordli, Jr, Douglas R, Pfeifer, Heidi H, Rho, Jong M, Scheffer, Ingrid E, Sharma, Suvasini, Stafstrom, Carl E, Thiele, Elizabeth A, Turner, Zahava, Vaccarezza, Maria M, van der Louw, Elles J T M, Veggiotti, Pierangelo, Wheless, James W, Wirrell, Elaine C

“…Ketogenic dietary therapies (KDTs) are established, effective nonpharmacologic treatments for intractable childhood epilepsy. For many years KDTs were…”
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Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group by Klepper, Joerg, Akman, Cigdem, Armeno, Marisa, Auvin, Stéphane, Cervenka, Mackenzie, Cross, Helen J., De Giorgis, Valentina, Della Marina, Adela, Engelstad, Kristin, Heussinger, Nicole, Kossoff, Eric H., Leen, Wilhelmina G., Leiendecker, Baerbel, Monani, Umrao R., Oguni, Hirokazu, Neal, Elizabeth, Pascual, Juan M., Pearson, Toni S., Pons, Roser, Scheffer, Ingrid E., Veggiotti, Pierangelo, Willemsen, Michél, Zuberi, Sameer M., De Vivo, Darryl C.

“…Glut1 deficiency syndrome (Glut1DS) is a brain energy failure syndrome caused by impaired glucose transport across brain tissue barriers. Glucose diffusion…”
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Ketogenic diet guidelines for infants with refractory epilepsy by van der Louw, Elles, RD, van den Hurk, Dorine, RD, Neal, Elizabeth, RD PhD, Leiendecker, Bärbel, RD, Fitzsimmon, Georgiana, RD, Dority, Laura, MS, RD, LD, Thompson, Lindsey, MS, RD, CSP, LD, Marchió, Maddelena, RD, Dudzińska, Magdalena, MD, Dressler, Anastasia, MD, Klepper, Joerg, MD, Auvin, Stéphane, MD, PhD, Cross, J. Helen, MD, PhD

“…Abstract The ketogenic diet (KD) is an established, effective non-pharmacologic treatment for drug resistant childhood epilepsy. For a long time, the KD was…”
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Optimal clinical management of children receiving the ketogenic diet: Recommendations of the International Ketogenic Diet Study Group by Kossoff, Eric H., Zupec‐Kania, Beth A., Amark, Per E., Ballaban‐Gil, Karen R., Christina Bergqvist, A. G., Blackford, Robyn, Buchhalter, Jeffrey R., Caraballo, Roberto H., Helen Cross, J., Dahlin, Maria G., Donner, Elizabeth J., Klepper, Joerg, Jehle, Rana S., Kim, Heung Dong, Christiana Liu, Y. M., Nation, Judy, Nordli Jr, Douglas R., Pfeifer, Heidi H., Rho, Jong M., Stafstrom, Carl E., Thiele, Elizabeth A., Turner, Zahava, Wirrell, Elaine C., Wheless, James W., Veggiotti, Pierangelo, Vining, Eileen P. G.

“…Summary The ketogenic diet (KD) is an established, effective nonpharmacologic treatment for intractable childhood epilepsy. The KD is provided differently…”
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Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection by Bonthron, David T, Goizet, Cyril, Déry, Catherine, Woods, C Geoffrey, Ali, Manir, Weschke, Bernhard, Jackson, Andrew P, Voit, Thomas, King, Mary D, Baumann, Clarisse, Till, Marianne, Quarrell, Oliver W, Crow, Yanick J, Cau, Daniel, Lacombe, Didier, Lyall, Hermione, Lanzi, Giovanni, Stephenson, John B P, Griffith, Elen, Garner, Anna, Parmar, Rekha, Lebon, Pierre, McKeown, Carole, Rogers, R Curtis, Hayward, Bruce E, Babul-Hirji, Riyana, Bertini, Enrico, Martínez-Frías, María Luisa, Monier, Anne, Leitch, Andrea, Rittey, Christopher D, Semple, Colin, Aicardi, Jean, Chitayat, David, Tolmie, John L, Ponting, Chris P, Baxter, Peter, Tacke, Uta, Mathieu, Michèle, Sanchis, Amparo, Tomlin, Pam, Oade, Yvette, Klepper, Joerg, Fazzi, Elisa, Chandler, Kate E

“…Aicardi-Goutières syndrome (AGS) is an autosomal recessive neurological disorder, the clinical and immunological features of which parallel those of congenital…”
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Mutations in the gene encoding the 3′-5′ DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus by Bonthron, David T, Lindahl, Tomas, Ali, Manir, Ponsot, Gerard, Robins, Peter, Voit, Thomas, van Bokhoven, Hans, Barnes, Deborah E, Livingston, John H, Massey, Roger F, Crow, Yanick J, Parmar, Rekha, Lebon, Pierre, Jackson, Andrew P, Hayward, Bruce E, Hamel, Ben C, Leitch, Andrea, Klepper, Joerg, Cowan, Frances M, Frints, Suzanne G, Black, Deborah N, Lynch, Sally Ann, Meritet, Jean François, Brunner, Han G, Corry, Peter C, Michaud, Jacques L

“…Aicardi-Goutières syndrome (AGS) presents as a severe neurological brain disease and is a genetic mimic of the sequelae of transplacentally acquired viral…”
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Consensus statements on the information to deliver after a febrile seizure by Loussouarn, Anna, Devlin, Anita, Bast, Thomas, Benoist, Grégoire, Corrard, François, Cross, Helen, Ferretti, Alessandro, Viguer, Fernando Garcia-Sala, Guerrini, Renzo, Klepper, Joerg, Meissner, Thomas, Milh, Mathieu, Poltorak, Violeta, Raucci, Umberto, San Antonio-Arce, Victoria, Sie, Adrian, Smeyers, Patricia, Specchio, Nicola, Sutcliffe, Alastair, Trauffler, Adeline, Dozières-Puyravel, Blandine, Auvin, Stéphane

“…Febrile seizures (FS) are usually self-limiting and cause no morbidity. Nevertheless they represent very traumatic events for families. There is a need to…”
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Timing of Ketogenic Dietary Therapy (KDT) Introduction and Its Impact on Cognitive Profiles in Children with Glut1-DS-A Preliminary Study by Barthold, Martina, Jurkutat, Anne, Goetz, Regina, Schubring, Lucia, Spiegler, Juliane, Fries, Ann-Sophie, Kiesel, Lucia, Klepper, Joerg

“…The aim of this research was to characterize cognitive abilities in patients with Glut1-Deficiency syndrome (Glut1DS) following ketogenic diet therapy (KDT)…”
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Diagnosis and treatment of growth hormone deficiency in children on the ketogenic diet: A case series by Groveman, Sue, Klepper, Joerg, Liesenkötter, Klaus‐Peter, Grimberg, Adda, Bergqvist, A. G. Christina

“…The ketogenic diet (KD) can have a negative impact on the linear growth and body composition of children. The aims of this study were to review two centers'…”
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Hemorrhagic Bullous Henoch-Schönlein Purpura: Case Report and Review of the Literature by Nothhaft, Matthias, Klepper, Joerg, Kneitz, Hermann, Meyer, Thomas, Hamm, Henning, Morbach, Henner

“…Henoch-Schönlein Purpura (HSP) or IgA vasculitis is the most common systemic vasculitis of childhood and may affect skin, joints, gastrointestinal tract, and…”
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Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome by Willemsen, Michèl A, Vissers, Lisenka Elm, Verbeek, Marcel M, van Bon, Bregje W, Geuer, Sinje, Gilissen, Christian, Klepper, Joerg, Kwint, Michael P, Leen, Wilhelmina G, Pennings, Maartje, Wevers, Ron A, Veltman, Joris A, Kamsteeg, Erik-Jan

“…Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder with a complex phenotypic spectrum but simple biomarkers in cerebrospinal…”
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GLUT1 deficiency syndrome in clinical practice by Klepper, Joerg

“…Summary GLUT1 deficiency syndrome (GLUT1DS) is caused by impaired glucose transport into brain and is effectively treated by means of a ketogenic diet. In…”
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Unusual sensitivity to steroid treatment in intractable childhood epilepsy suggests GLUT1 deficiency syndrome by Vieker, Silvia, Schmitt, Jörg, Längler, Alfred, Schmidt, Winfried, Klepper, Joerg

“…Glucose transporter 1 (GLUT1) deficiency syndrome (DS) results from impaired glucose transport into brain. We describe the case of an 8-year-old girl with…”
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First report of GLUT1 deficiency syndrome in Chinese patients with novel and hot spot mutations in SLC2A1 gene by Fung, Eva Lai-wah, Ho, Yuan Yuan, Hui, Joannie, Wong, Jack Ho, Ng, Tzi-Bun, Fong, Nga-Yin Fion, Klepper, Joerg, Tsui, Kwok-Wing Stephen

“…Abstract Glucose transporter type 1 deficiency syndrome (GLUT1DS) is increasingly recognized as a cause of various neurological disorders but a high index of…”
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GLUT1 deficiency syndrome and ketogenic diet therapies: missing rare but treatable diseases? by Klepper, Joerg

“…This commentary is on the the original article by Schoeler et al. on pages 969–976 of this issue…”
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Glut1 Deficiency Syndrome and Novel Ketogenic Diets by Klepper, Joerg, Leiendecker, Baerbel

“…The classical ketogenic diet has been used for refractory childhood epilepsy for decades. It is also the treatment of choice for disorders of brain energy…”
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Absence of SLC2A1 mutations does not exclude Glut1 deficiency syndrome by Klepper, Joerg

“…Increasingly, the absence of SLC2A1 mutations causes pediatricians to abandon the diagnosis of Glut1 deficiency. For several reasons this is not justified…”
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