KCNT2-Related Disorders: Phenotypes, Functional, and Pharmacological Properties
Cioclu, Maria Cristina, Mosca, Ilaria, Ambrosino, Paolo, Puzo, Deborah, Bayat, Allan, Wortmann, Saskia B, Koch, Johannes, Strehlow, Vincent, Shirai, Kentaro, Matsumoto, Naomichi, Sanders, Stephan J, Michaud, Vincent, Legendre, Marine, Riva, Antonella, Striano, Pasquale, Muhle, Hiltrud, Pendziwiat, Manuela, Lesca, Gaetan, Mangano, Giuseppe Donato, Nardello, Rosaria, Lemke, Johannes R, Møller, Rikke S, Soldovieri, Maria Virginia, Rubboli, Guido, Taglialatela, Maurizio
Published in Annals of neurology (01.08.2023)
Published in Annals of neurology (01.08.2023)
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Neue Erkenntnisse zur Qualitätssicherung von PP‐Faserbetonen am Beispiel des Straßentunnels Kriegsstraße
Shepherd, David Alós, Helbig, Ingo, Kühn, Roman, Dehn, Frank
Published in Beton- und Stahlbetonbau (01.10.2020)
Published in Beton- und Stahlbetonbau (01.10.2020)
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A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism
Parthasarathy, Shridhar, Ruggiero, Sarah McKeown, Gelot, Antoinette, Soardi, Fernanda C, Ribeiro, Bethânia F R, Pires, Douglas E V, Ascher, David B, Schmitt, Alain, Rambaud, Caroline, Represa, Alfonso, Xie, Hongbo M, Lusk, Laina, Wilmarth, Olivia, McDonnell, Pamela Pojomovsky, Juarez, Olivia A, Grace, Alexandra N, Buratti, Julien, Mignot, Cyril, Gras, Domitille, Nava, Caroline, Pierce, Samuel R, Keren, Boris, Kennedy, Benjamin C, Pena, Sergio D J, Helbig, Ingo, Cuddapah, Vishnu Anand
Published in American journal of human genetics (01.12.2022)
Published in American journal of human genetics (01.12.2022)
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Agammaglobulinemia with normal B-cell numbers in a patient lacking Bob1
Kury, Patrick, Staniek, Julian, Wegehaupt, Oliver, Janowska, Iga, Eckenweiler, Matthias, Korinthenberg, Rudolf, Japaridze, Natia, Pendziwiat, Manuela, Helbig, Ingo, Verhoeyen, Els, Jung, Johannes, Garcia de Oteyza, Andres Caballero, Proietti, Michele, Phirtskhalaishvili, Tamar, Rtskhiladze, Irakli, Nielsen, Peter J., Ehl, Stephan, Speckmann, Carsten, Rizzi, Marta
Published in Journal of allergy and clinical immunology (01.05.2021)
Published in Journal of allergy and clinical immunology (01.05.2021)
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Rare coding variants in genes encoding GABA A receptors in genetic generalised epilepsies: an exome-based case-control study
May, Patrick, Girard, Simon, Harrer, Merle, Bobbili, Dheeraj R, Schubert, Julian, Wolking, Stefan, Becker, Felicitas, Lachance-Touchette, Pamela, Meloche, Caroline, Gravel, Micheline, Niturad, Cristina E, Knaus, Julia, De Kovel, Carolien, Toliat, Mohamad, Polvi, Anne, Iacomino, Michele, Guerrero-López, Rosa, Baulac, Stéphanie, Marini, Carla, Thiele, Holger, Altmüller, Janine, Jabbari, Kamel, Ruppert, Ann-Kathrin, Jurkowski, Wiktor, Lal, Dennis, Rusconi, Raffaella, Cestèle, Sandrine, Terragni, Benedetta, Coombs, Ian D, Reid, Christopher A, Striano, Pasquale, Caglayan, Hande, Siren, Auli, Everett, Kate, Møller, Rikke S, Hjalgrim, Helle, Muhle, Hiltrud, Helbig, Ingo, Kunz, Wolfram S, Weber, Yvonne G, Weckhuysen, Sarah, Jonghe, Peter De, Sisodiya, Sanjay M, Nabbout, Rima, Franceschetti, Silvana, Coppola, Antonietta, Vari, Maria S, Kasteleijn-Nolst Trenité, Dorothée, Baykan, Betul, Ozbek, Ugur, Bebek, Nerses, Klein, Karl M, Rosenow, Felix, Nguyen, Dang K, Dubeau, François, Carmant, Lionel, Lortie, Anne, Desbiens, Richard, Clément, Jean-François, Cieuta-Walti, Cécile, Sills, Graeme J, Auce, Pauls, Francis, Ben, Johnson, Michael R, Marson, Anthony G, Berghuis, Bianca, Sander, Josemir W, Avbersek, Andreja, McCormack, Mark, Cavalleri, Gianpiero L, Delanty, Norman, Depondt, Chantal, Krenn, Martin, Zimprich, Fritz, Peter, Sarah, Nikanorova, Marina, Kraaij, Robert, van Rooij, Jeroen, Balling, Rudi, Ikram, M Arfan, Uitterlinden, André G, Avanzini, Giuliano, Schorge, Stephanie, Petrou, Steven, Mantegazza, Massimo, Sander, Thomas, LeGuern, Eric, Serratosa, Jose M, Koeleman, Bobby P C, Palotie, Aarno, Lehesjoki, Anna-Elina, Nothnagel, Michael, Nürnberg, Peter, Maljevic, Snezana, Zara, Federico, Cossette, Patrick, Krause, Roland, Lerche, Holger
Published in Lancet neurology (01.08.2018)
Published in Lancet neurology (01.08.2018)
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15q13.3 microdeletions increase risk of idiopathic generalized epilepsy
Schmitz, Bettina, Zimprich, Fritz, Nothnagel, Michael, de Haan, Gerrit-Jan, Mefford, Heather C, Weber, Yvonne, Hjalgrim, Helle, Rosenow, Felix, Baker, Carl, Franke, Andre, Wittig, Michael, Steinich, Ines, Lerche, Holger, Eichler, Evan E, Urak, Lydia, Kleefuß-Lie, Ailing A, Romano, Corrado, de Kovel, Carolien, Fichera, Marco, Gaus, Verena, Sharp, Andrew J, Schreiber, Stefan, Malafosse, Alain, Helbig, Ingo, Thomas, Pierre, Muhle, Hiltrud, Klein, Karl M, Genton, Pierre, Guipponi, Michel, Fuchs, Karoline, Sander, Thomas, Visscher, Frank, Elger, Christian E, Koeleman, Bobby P C, Møller, Rikke S, Nürnberg, Peter, Kron, Katherine L, Leu, Costin, Feucht, Martha, Reif, Philipp S, Stephani, Ulrich, Lindhout, Dick, von Spiczak, Sarah, Luciano, Daniela
Published in Nature genetics (01.02.2009)
Published in Nature genetics (01.02.2009)
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A homozygous missense variant in CACNB4 encoding the auxiliary calcium channel beta4 subunit causes a severe neurodevelopmental disorder and impairs channel and non-channel functions
Coste de Bagneaux, Pierre, von Elsner, Leonie, Bierhals, Tatjana, Campiglio, Marta, Johannsen, Jessika, Obermair, Gerald J, Hempel, Maja, Flucher, Bernhard E, Kutsche, Kerstin
Published in PLoS genetics (16.03.2020)
Published in PLoS genetics (16.03.2020)
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The Pediatric Cell Atlas: Defining the Growth Phase of Human Development at Single-Cell Resolution
Taylor, Deanne M., Aronow, Bruce J., Tan, Kai, Bernt, Kathrin, Salomonis, Nathan, Greene, Casey S., Frolova, Alina, Henrickson, Sarah E., Wells, Andrew, Pei, Liming, Jaiswal, Jyoti K., Whitsett, Jeffrey, Hamilton, Kathryn E., MacParland, Sonya A., Kelsen, Judith, Heuckeroth, Robert O., Potter, S. Steven, Vella, Laura A., Terry, Natalie A., Ghanem, Louis R., Kennedy, Benjamin C., Helbig, Ingo, Sullivan, Kathleen E., Castelo-Soccio, Leslie, Kreigstein, Arnold, Herse, Florian, Nawijn, Martijn C., Koppelman, Gerard H., Haendel, Melissa, Harris, Nomi L., Rokita, Jo Lynne, Zhang, Yuanchao, Regev, Aviv, Rozenblatt-Rosen, Orit, Rood, Jennifer E., Tickle, Timothy L., Vento-Tormo, Roser, Alimohamed, Saif, Lek, Monkol, Mar, Jessica C., Loomes, Kathleen M., Barrett, David M., Uapinyoying, Prech, Beggs, Alan H., Agrawal, Pankaj B., Chen, Yi-Wen, Muir, Amanda B., Garmire, Lana X., Snapper, Scott B., Nazarian, Javad, Seeholzer, Steven H., Fazelinia, Hossein, Singh, Larry N., Faryabi, Robert B., Raman, Pichai, Dawany, Noor, Xie, Hongbo Michael, Devkota, Batsal, Diskin, Sharon J., Anderson, Stewart A., Rappaport, Eric F., Peranteau, William, Wikenheiser-Brokamp, Kathryn A., Teichmann, Sarah, Wallace, Douglas, Peng, Tao, Ding, Yang-yang, Kim, Man S., Xing, Yi, Kong, Sek Won, Bönnemann, Carsten G., Mandl, Kenneth D., White, Peter S.
Published in Developmental cell (08.04.2019)
Published in Developmental cell (08.04.2019)
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Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals
Montanucci, Ludovica, Lewis-Smith, David, Collins, Ryan L., Niestroj, Lisa-Marie, Parthasarathy, Shridhar, Xian, Julie, Ganesan, Shiva, Macnee, Marie, Brünger, Tobias, Thomas, Rhys H., Talkowski, Michael, Helbig, Ingo, Leu, Costin, Lal, Dennis
Published in Nature communications (20.07.2023)
Published in Nature communications (20.07.2023)
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Clinical spectrum of STX1B -related epileptic disorders
Wolking, Stefan, May, Patrick, Mei, Davide, Møller, Rikke S, Balestrini, Simona, Helbig, Katherine L, Altuzarra, Cecilia Desmettre, Chatron, Nicolas, Kaiwar, Charu, Stöhr, Katharina, Widdess-Walsh, Peter, Mendelsohn, Bryce A, Numis, Adam, Cilio, Maria R, Van Paesschen, Wim, Svendsen, Lene L, Oates, Stephanie, Hughes, Elaine, Goyal, Sushma, Brown, Kathleen, Sifuentes Saenz, Margarita, Dorn, Thomas, Muhle, Hiltrud, Pagnamenta, Alistair T, Vavoulis, Dimitris V, Knight, Samantha J L, Taylor, Jenny C, Canevini, Maria Paola, Darra, Francesca, Gavrilova, Ralitza H, Powis, Zöe, Tang, Shan, Marquetand, Justus, Armstrong, Martin, McHale, Duncan, Klee, Eric W, Kluger, Gerhard J, Lowenstein, Daniel H, Weckhuysen, Sarah, Pal, Deb K, Helbig, Ingo, Guerrini, Renzo, Thomas, Rhys H, Rees, Mark I, Lesca, Gaetan, Sisodiya, Sanjay M, Weber, Yvonne G, Lal, Dennis, Marini, Carla, Lerche, Holger, Schubert, Julian
Published in Neurology (12.03.2019)
Published in Neurology (12.03.2019)
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The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield
Berkovic, Samuel F., Goldstein, David B., Heinzen, Erin L., Laughlin, Brandon L., Lowenstein, Daniel H., Lubbers, Laura, Stewart, Randall, Whittemore, Vicky, Angione, Kaitlin, Bazil, Carl W., Bier, Louise, Bluvstein, Judith, Brimble, Elise, Campbell, Colleen, Cavalleri, Gianpiero, Chambers, Chelsea, Choi, Hyunmi, Cilio, Maria Roberta, Ciliberto, Michael, Cornes, Susannah, Delanty, Norman, Demarest, Scott, Devinsky, Orrin, Dlugos, Dennis, Dubbs, Holly, Dugan, Patricia, Ernst, Michelle E., Gibbons, Melissa, Goodkin, Howard P., Helbig, Ingo, Jansen, Laura, Johnson, Kaleas, Joshi, Charuta, Lippa, Natalie C., Marsh, Eric, Martinez, Alejandro, Millichap, John, Mulhern, Maureen S., Numis, Adam, Park, Kristen, Pippucci, Tommaso, Poduri, Annapurna, Porter, Brenda, Regan, Brigid, Sands, Tristan T., Scheffer, Ingrid E., Schreiber, John M., Sheidley, Beth, Singhal, Nilika, Smith, Lacey, Sullivan, Joseph, Taylor, Alan, Tolete, Patricia, Afgani, Tahseen M., Aggarwal, Vimla, Burgess, Rosemary, Dixon‐Salazar, Tracy, Hemati, Parisa, Milder, Julie, Petrovski, Slavé, Revah‐Politi, Anya, Stong, Nicholas
Published in Epilepsia (Copenhagen) (01.05.2019)
Published in Epilepsia (Copenhagen) (01.05.2019)
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Expanding the clinical phenotype and variant spectrum associated with RFX7
Sisroe, Talia, Santos, Attila Dos, Rippert, Alyssa L., Gray, Christopher, Skraban, Cara M., Nelson, Beverly, Tefft, Sarah, Helbig, Ingo, Li, Dong, Bhoj, Elizabeth J., Sobering, Andrew K.
Published in American journal of medical genetics. Part A (01.12.2024)
Published in American journal of medical genetics. Part A (01.12.2024)
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Recessive mutations in SLC13A5 result in a loss of citrate transport and cause neonatal epilepsy, developmental delay and teeth hypoplasia
Hardies, Katia, de Kovel, Carolien G F, Weckhuysen, Sarah, Asselbergh, Bob, Geuens, Thomas, Deconinck, Tine, Azmi, Abdelkrim, May, Patrick, Brilstra, Eva, Becker, Felicitas, Barisic, Nina, Craiu, Dana, Braun, Kees P J, Lal, Dennis, Thiele, Holger, Schubert, Julian, Weber, Yvonne, van 't Slot, Ruben, Nürnberg, Peter, Balling, Rudi, Timmerman, Vincent, Lerche, Holger, Maudsley, Stuart, Helbig, Ingo, Suls, Arvid, Koeleman, Bobby P C, De Jonghe, Peter
Published in Brain (London, England : 1878) (01.11.2015)
Published in Brain (London, England : 1878) (01.11.2015)
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DNM1 encephalopathy: A new disease of vesicle fission
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, Heidi, Slavotinek, Anne, Cilio, Maria R, Cervenka, Mackenzie C, Cohen, Julie S, McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D, Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S, Palmer, Elizabeth, Lawson, John A, Campbell, Colleen A, Joshi, Charuta N, Kolbe, Diana L, Hollingsworth, Georgie, Neubauer, Bernd A, Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E, Pena, Sérgio D J, Sisodiya, Sanjay M, Helbig, Ingo
Published in Neurology (25.07.2017)
Published in Neurology (25.07.2017)
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Design and implementation of electronic health record common data elements for pediatric epilepsy: Foundations for a learning health care system
Grinspan, Zachary M., Patel, Anup D., Shellhaas, Renée A., Berg, Anne T., Axeen, Erika T., Bolton, Jeffrey, Clarke, David F., Coryell, Jason, Gaillard, William D., Goodkin, Howard P., Koh, Sookyong, Kukla, Alison, Mbwana, Juma S., Morgan, Lindsey A., Singhal, Nilika S., Storey, Margaret M., Yozawitz, Elissa G., Abend, Nicholas S., Fitzgerald, Mark P., Fridinger, Sara E., Helbig, Ingo, Massey, Shavonne L., Prelack, Marisa S., Buchhalter, Jeffrey
Published in Epilepsia (Copenhagen) (01.01.2021)
Published in Epilepsia (Copenhagen) (01.01.2021)
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TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
Dines, Jennifer N., Golden-Grant, Katie, LaCroix, Amy, Muir, Alison M., Cintrón, Dianne Laboy, McWalter, Kirsty, Cho, Megan T., Sun, Angela, Merritt, J. Lawrence, Thies, Jenny, Niyazov, Dmitriy, Burton, Barbara, Kim, Katherine, Fleming, Leah, Westman, Rachel, Karachunski, Peter, Dalton, Joline, Basinger, Alice, Ficicioglu, Can, Helbig, Ingo, Pendziwiat, Manuela, Muhle, Hiltrud, Helbig, Katherine L., Caliebe, Almuth, Santer, René, Becker, Kolja, Suchy, Sharon, Douglas, Ganka, Millan, Francisca, Begtrup, Amber, Monaghan, Kristin G., Mefford, Heather C.
Published in Genetics in medicine (01.03.2019)
Published in Genetics in medicine (01.03.2019)
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Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity
Holze, Niklas, Baalen, Andreas van, Stephani, Ulrich, Helbig, Ingo, Muhle, Hiltrud
Published in Neuropediatrics (01.10.2018)
Published in Neuropediatrics (01.10.2018)
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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
Hengel, Holger, Bosso-Lefèvre, Célia, Grady, George, Szenker-Ravi, Emmanuelle, Li, Hankun, Pierce, Sarah, Lebigot, Élise, Tan, Thong-Teck, Eio, Michelle Y., Narayanan, Gunaseelan, Utami, Kagistia Hana, Yau, Monica, Handal, Nader, Deigendesch, Werner, Keimer, Reinhard, Marzouqa, Hiyam M., Gunay-Aygun, Meral, Muriello, Michael J., Verhelst, Helene, Weckhuysen, Sarah, Mahida, Sonal, Naidu, Sakkubai, Thomas, Terrence G., Lim, Jiin Ying, Tan, Ee Shien, Haye, Damien, Willemsen, Michèl A. A. P., Oegema, Renske, Mitchell, Wendy G., Pierson, Tyler Mark, Andrews, Marisa V., Willing, Marcia C., Rodan, Lance H., Barakat, Tahsin Stefan, van Slegtenhorst, Marjon, Gavrilova, Ralitza H., Martinelli, Diego, Gilboa, Tal, Tamim, Abdullah M., Hashem, Mais O., AlSayed, Moeenaldeen D., Abdulrahim, Maha M., Al-Owain, Mohammed, Awaji, Ali, Mahmoud, Adel A. H., Faqeih, Eissa A., Asmari, Ali Al, Algain, Sulwan M., Jad, Lamyaa A., Aldhalaan, Hesham M., Helbig, Ingo, Koolen, David A., Riess, Angelika, Kraegeloh-Mann, Ingeborg, Bauer, Peter, Gulsuner, Suleyman, Stamberger, Hannah, Ng, Alvin Yu Jin, Tang, Sha, Tohari, Sumanty, Keren, Boris, Schultz-Rogers, Laura E., Klee, Eric W., Barresi, Sabina, Tartaglia, Marco, Mor-Shaked, Hagar, Maddirevula, Sateesh, Begtrup, Amber, Telegrafi, Aida, Pfundt, Rolph, Schüle, Rebecca, Ciruna, Brian, Bonnard, Carine, Pouladi, Mahmoud A., Stewart, James C., Claridge-Chang, Adam, Lefeber, Dirk J., Alkuraya, Fowzan S., Mathuru, Ajay S., Venkatesh, Byrappa, Barycki, Joseph J., Simpson, Melanie A., Jamuar, Saumya S., Schöls, Ludger, Reversade, Bruno
Published in Nature communications (30.01.2020)
Published in Nature communications (30.01.2020)
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A Single-Cell Transcriptome Atlas of Glia Diversity in the Human Hippocampus across the Postnatal Lifespan
Su, Yijing, Zhou, Yi, Bennett, Mariko L., Li, Shiying, Carceles-Cordon, Marc, Lu, Lu, Huh, Sooyoung, Jimenez-Cyrus, Dennisse, Kennedy, Benjamin C., Kessler, Sudha K., Viaene, Angela N., Helbig, Ingo, Gu, Xiaosong, Kleinman, Joel E., Hyde, Thomas M., Weinberger, Daniel R., Nauen, David W., Song, Hongjun, Ming, Guo-li
Published in Cell stem cell (03.11.2022)
Published in Cell stem cell (03.11.2022)
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