A Survey on Cannabinoid Treatment of Pediatric Epilepsy Among Neuropediatricians in Scandinavia and Germany

door Klingenberg, Claus, Mouslet, George, Hjalgrim, Helle, Gerstner, Thorsten
Gepubliceerd in Front Pediatr (2020)

A nonsense mutation in FMR1 causing fragile X syndrome

door Grønskov, Karen, Brøndum-Nielsen, Karen, Dedic, Alma, Hjalgrim, Helle
Gepubliceerd in 2011

Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy

door Klitten, Laura L, Møller, Rikke S, Ravn, Kirstine, Hjalgrim, Helle, Tommerup, Niels
Gepubliceerd in 2011

Dysregulation of FOXG1 by ring chromosome 14

door Alosi, Daniela, Klitten, Laura Line, Bak, Mads, Hjalgrim, Helle, Møller, Rikke Steensbjerre, Tommerup, Niels
Gepubliceerd in Mol Cytogenet (2015)

Subtelomeric study of 132 patients with mental retardation reveals 9 chromosomal anomalies and contributes to the delineation of submicroscopic deletions of 1pter, 2qter, 4pter, 5q...

door Sogaard, Marie, Tümer, Zeynep, Hjalgrim, Helle, Hahnemann, Johanne, Friis, Birgitte, Ledaal, Paal, Pedersen, Vibeke Faurholt, Baekgaard, Peter, Tommerup, Niels, Cingöz, Sultan, Duno, Morten, Brondum-Nielsen, Karen
Gepubliceerd in 2005

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

door Mosbech, Mai-Britt, Olsen, Anne S B, Neess, Ditte, Ben-David, Oshrit, Klitten, Laura L, Larsen, Jan, Sabers, Anne, Vissing, John, Nielsen, Jørgen E, Hasholt, Lis, Klein, Andres D, Tsoory, Michael M, Hjalgrim, Helle, Tommerup, Niels, Futerman, Anthony H, Møller, Rikke S, Færgeman, Nils J
Gepubliceerd in 2014

Expansion of the Fragile X CGG Repeat in Females with Premutation or Intermediate Alleles

door Nolin, Sarah L., Brown, W. Ted, Glicksman, Anne, Houck, Jr., George E., Gargano, Alice D., Sullivan, Amy, Biancalana, Valérie, Bröndum-Nielsen, Karen, Hjalgrim, Helle, Holinski-Feder, Elke, Kooy, Frank, Longshore, John, Macpherson, James, Mandel, Jean-Louis, Matthijs, Gert, Rousseau, Francois, Steinbach, Peter, Väisänen, Marja-Leena, von Koskull, Harriet, Sherman, Stephanie L.
Gepubliceerd in 2003

Standardized Computer-based Organized Reporting of EEG: SCORE

door Beniczky, Sándor, Aurlien, Harald, Brøgger, Jan C, Fuglsang-Frederiksen, Anders, Martins-da-Silva, António, Trinka, Eugen, Visser, Gerhard, Rubboli, Guido, Hjalgrim, Helle, Stefan, Hermann, Rosén, Ingmar, Zarubova, Jana, Dobesberger, Judith, Alving, Jørgen, Andersen, Kjeld V, Fabricius, Martin, Atkins, Mary D, Neufeld, Miri, Plouin, Perrine, Marusic, Petr, Pressler, Ronit, Mameniskiene, Ruta, Hopfengärtner, Rüdiger, Emde Boas, Walter, Wolf, Peter
Gepubliceerd in 2013

Structural genomic variation in childhood epilepsies with complex phenotypes

door 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, Onno, Jansen, Floor E, Braun, Kees P J, de Haan, Gerrit-Jan, Tommerup, Niels, Stephani, Ulrich, Hjalgrim, Helle, Poot, Martin, Lindhout, Dick, Brilstra, Eva H, Møller, Rikke S, Koeleman, Bobby PC
Gepubliceerd in 2014

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

door Carvill, Gemma L., Weckhuysen, Sarah, McMahon, Jacinta M., Hartmann, Corinna, Møller, Rikke S., Hjalgrim, Helle, Cook, Joseph, Geraghty, Eileen, O’Roak, Brian J., Petrou, Steve, Clarke, Alison, Gill, Deepak, Sadleir, Lynette G., Muhle, Hiltrud, von Spiczak, Sarah, Nikanorova, Marina, Hodgson, Bree L., Gazina, Elena V., Suls, Arvid, Shendure, Jay, Dibbens, Leanne M., De Jonghe, Peter, Helbig, Ingo, Berkovic, Samuel F., Scheffer, Ingrid E., Mefford, Heather C.
Gepubliceerd in 2014

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

door Jønch, Aia Elise, Douard, Elise, Moreau, Clara, Van Dijck, Anke, Passeggeri, Marzia, Kooy, Frank, Puechberty, Jacques, Campbell, Carolyn, Sanlaville, Damien, Lefroy, Henrietta, Richetin, Sonia, Pain, Aurelie, Geneviève, David, Kini, Usha, Le Caignec, Cédric, Lespinasse, James, Skytte, Anne-Bine, Isidor, Bertrand, Zweier, Christiane, Caberg, Jean-Hubert, Delrue, Marie-Ange, Møller, Rikke Steensbjerre, Bojesen, Anders, Hjalgrim, Helle, Brasch-Andersen, Charlotte, Lemyre, Emmanuelle, Ousager, Lilian Bomme, Jacquemont, Sébastien
Gepubliceerd in J Med Genet (2019)

Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients

door Weckhuysen, Sarah, Ivanovic, Vanja, Hendrickx, Rik, Van Coster, Rudy, Hjalgrim, Helle, Møller, Rikke S., Grønborg, Sabine, Schoonjans, An-Sofie, Ceulemans, Berten, Heavin, Sinead B., Eltze, Christin, Horvath, Rita, Casara, Gianluca, Pisano, Tiziana, Giordano, Lucio, Rostasy, Kevin, Haberlandt, Edda, Albrecht, Beate, Bevot, Andrea, Benkel, Ira, Syrbe, Steffan, Sheidley, Beth, Guerrini, Renzo, Poduri, Annapurna, Lemke, Johannes R., Mandelstam, Simone, Scheffer, Ingrid, Angriman, Marco, Striano, Pasquale, Marini, Carla, Suls, Arvid, De Jonghe, Peter
Gepubliceerd in 2013

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

door Møller, Rikke S., Larsen, Line H.G., Johannesen, Katrine M., Talvik, Inga, Talvik, Tiina, Vaher, Ulvi, Miranda, Maria J., Farooq, Muhammad, Nielsen, Jens E.K., Svendsen, Lene Lavard, Kjelgaard, Ditte B., Linnet, Karen M., Hao, Qin, Uldall, Peter, Frangu, Mimoza, Tommerup, Niels, Baig, Shahid M., Abdullah, Uzma, Born, Alfred P., Gellert, Pia, Nikanorova, Marina, Olofsson, Kern, Jepsen, Birgit, Marjanovic, Dragan, Al-Zehhawi, Lana I.K., Peñalva, Sofia J., Krag-Olsen, Bente, Brusgaard, Klaus, Hjalgrim, Helle, Rubboli, Guido, Pal, Deb K., Dahl, Hans A.
Gepubliceerd in Mol Syndromol (2016)

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

door Johannesen, Katrine M., Mitter, Diana, Janowski, Robert, Roth, Christian, Toulouse, Joseph, Poulat, Anne-Lise, Ville, Dorothee M., Chatron, Nicolas, Brilstra, Eva, Geleijns, Karin, Born, Alfred Peter, McLean, Scott, Nugent, Kimberly, Baynam, Gareth, Poulton, Cathryn, Dreyer, Lauren, Gration, Dylan, Schulz, Solveig, Dieckmann, Andrea, Helbig, Katherine L., Merkenschlager, Andreas, Jamra, Rami, Finck, Anja, Gardella, Elena, Hjalgrim, Helle, Mirzaa, Ghayda, Brancati, Francesco, Bierhals, Tatjana, Denecke, Jonas, Hempel, Maja, Lemke, Johannes R., Rubboli, Guido, Muschke, Petra, Guerrini, Renzo, Vetro, Annalisa, Niessing, Dierk, Lesca, Gaetan, Møller, Rikke S.
Gepubliceerd in Neurol Genet (2019)

The phenotypic spectrum of SCN8A encephalopathy

door Larsen, Jan, Carvill, Gemma L., Gardella, Elena, Kluger, Gerhard, Schmiedel, Gudrun, Barisic, Nina, Depienne, Christel, Brilstra, Eva, Mang, Yuan, Nielsen, Jens Erik Klint, Kirkpatrick, Martin, Goudie, David, Goldman, Rebecca, Jähn, Johanna A., Jepsen, Birgit, Gill, Deepak, Döcker, Miriam, Biskup, Saskia, McMahon, Jacinta M., Koeleman, Bobby, Harris, Mandy, Braun, Kees, de Kovel, Carolien G.F., Marini, Carla, Specchio, Nicola, Djémié, Tania, Weckhuysen, Sarah, Tommerup, Niels, Troncoso, Monica, Troncoso, Ledia, Bevot, Andrea, Wolff, Markus, Hjalgrim, Helle, Guerrini, Renzo, Scheffer, Ingrid E., Mefford, Heather C., Møller, Rikke S.
Gepubliceerd in Neurology (2015)

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

door Hardies, Katia, May, Patrick, Djémié, Tania, Tarta-Arsene, Oana, Deconinck, Tine, Craiu, Dana, Helbig, Ingo, Suls, Arvid, Balling, Rudy, Weckhuysen, Sarah, De Jonghe, Peter, Hirst, Jennifer, Afawi, Zaid, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Depienne, Christel, De Kovel, Carolien G.F., Dimova, Petia, Guerrero-López, Rosa, Guerrini, Renzo, Hjalgrim, Helle, Hoffman-Zacharska, Dorota, Jahn, Johanna, Klein, Karl Martin, Koeleman, Bobby P.C., Leguern, Eric, Lehesjoki, Anna-Elina, Lemke, Johannes, Lerche, Holger, Marini, Carla, Muhle, Hiltrud, Rosenow, Felix, Serratosa, Jose M., Møller, Rikke S., Stephani, Ulrich, Striano, Pasquale, Talvik, Tiina, Von Spiczak, Sarah, Weber, Yvonne, Zara, Federico
Gepubliceerd in Hum Mol Genet (2015)

Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

door Lal, Dennis, Ruppert, Ann-Kathrin, Trucks, Holger, Schulz, Herbert, de Kovel, Carolien G., Kasteleijn-Nolst Trenité, Dorothée, Sonsma, Anja C. M., Koeleman, Bobby P., Lindhout, Dick, Weber, Yvonne G., Lerche, Holger, Kapser, Claudia, Schankin, Christoph J., Kunz, Wolfram S., Surges, Rainer, Elger, Christian E., Gaus, Verena, Schmitz, Bettina, Helbig, Ingo, Muhle, Hiltrud, Stephani, Ulrich, Klein, Karl M., Rosenow, Felix, Neubauer, Bernd A., Reinthaler, Eva M., Zimprich, Fritz, Feucht, Martha, Møller, Rikke S., Hjalgrim, Helle, De Jonghe, Peter, Suls, Arvid, Lieb, Wolfgang, Franke, Andre, Strauch, Konstantin, Gieger, Christian, Schurmann, Claudia, Schminke, Ulf, Nürnberg, Peter, Sander, Thomas
Gepubliceerd in PLoS Genet (2015)

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

door Helbig, Ingo, Mefford, Heather C, Sharp, Andrew J, Guipponi, Michel, Fichera, Marco, Franke, Andre, Muhle, Hiltrud, de Kovel, Carolien, Baker, Carl, von Spiczak, Sarah, Kron, Katherine L, Steinich, Ines, Kleefuβ-Lie, Ailing A, Leu, Costin, Gaus, Verena, Schmitz, Bettina, Klein, Karl M, Reif, Philipp S, Rosenow, Felix, Weber, Yvonne, Lerche, Holger, Zimprich, Fritz, Urak, Lydia, Fuchs, Karoline, Feucht, Martha, Genton, Pierre, Thomas, Pierre, Visscher, Frank, de Haan, Gerrit-Jan, Møller, Rikke S, Hjalgrim, Helle, Luciano, Daniela, Wittig, Michael, Nothnagel, Michael, Elger, Christian E, Nürnberg, Peter, Romano, Corrado, Malafosse, Alain, Koeleman, Bobby P C, Lindhout, Dick, Stephani, Ulrich, Schreiber, Stefan, Eichler, Evan E, Sander, Thomas
Gepubliceerd in 2009

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

door 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, Kluger, Gerhard, Iliescu, Catrinel M., Talvik, Tiina, Talvik, Inga, Meral, Cihan, Caglayan, Hande S., Giraldez, Beatriz G., Serratosa, José, Lemke, Johannes R., Hoffman-Zacharska, Dorota, Szczepanik, Elzbieta, Barisic, Nina, Komarek, Vladimir, Hjalgrim, Helle, Møller, Rikke S., Linnankivi, Tarja, Dimova, Petia, Striano, Pasquale, Zara, Federico, Marini, Carla, Guerrini, Renzo, Depienne, Christel, Baulac, Stéphanie, Kuhlenbäumer, Gregor, Crawford, Alexander D., Lehesjoki, Anna-Elina, de Witte, Peter A.M., Palotie, Aarno, Lerche, Holger, Esguerra, Camila V., De Jonghe, Peter, Helbig, Ingo
Gepubliceerd in 2013

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

door de Kovel, Carolien G. F., Trucks, Holger, Helbig, Ingo, Mefford, Heather C., Baker, Carl, Leu, Costin, Kluck, Christian, Muhle, Hiltrud, von Spiczak, Sarah, Ostertag, Philipp, Obermeier, Tanja, Kleefuß-Lie, Ailing A., Hallmann, Kerstin, Steffens, Michael, Gaus, Verena, Klein, Karl M., Hamer, Hajo M., Rosenow, Felix, Brilstra, Eva H., Kasteleijn-Nolst Trenité, Dorothée, Swinkels, Marielle E. M., Weber, Yvonne G., Unterberger, Iris, Zimprich, Fritz, Urak, Lydia, Feucht, Martha, Fuchs, Karoline, Møller, Rikke S., Hjalgrim, Helle, De Jonghe, Peter, Suls, Arvid, Rückert, Ina-Maria, Wichmann, Heinz-Erich, Franke, Andre, Schreiber, Stefan, Nürnberg, Peter, Elger, Christian E., Lerche, Holger, Stephani, Ulrich, Koeleman, Bobby P. C., Lindhout, Dick, Eichler, Evan E., Sander, Thomas
Gepubliceerd in 2010