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PLoS ONE, ISSN 1932-6203, 09/2014, Volume 9, Issue 9, p. e107764
Journal Article
Animal Genetics, ISSN 0268-9146, 08/2015, Volume 46, Issue 4, pp. 452 - 456
Journal Article
Diabetes (New York, N.Y.), ISSN 0012-1797, 2011, Volume 60, Issue 10, pp. 2624 - 2634
Journal Article
Journal Article
by Helbig, Katherine L and Lauerer, Robert J and Bahr, Jacqueline C and Souza, Ivana A and Myers, Candace T and Uysal, Betül and Schwarz, Niklas and Gandini, Maria A and Huang, Sun and Keren, Boris and Mignot, Cyril and Afenjar, Alexandra and Billette de Villemeur, Thierry and Héron, Delphine and Nava, Caroline and Valence, Stéphanie and Buratti, Julien and Fagerberg, Christina R and Soerensen, Kristina P and Kibaek, Maria and Kamsteeg, Erik-Jan and Koolen, David A and Gunning, Boudewijn and Schelhaas, H. Jurgen and Kruer, Michael C and Fox, Jordana and Bakhtiari, Somayeh and Jarrar, Randa and Padilla-Lopez, Sergio and Lindstrom, Kristin and Jin, Sheng Chih and Zeng, Xue and Bilguvar, Kaya and Papavasileiou, Antigone and Xing, Qinghe and Zhu, Changlian and Boysen, Katja and Vairo, Filippo and Lanpher, Brendan C and Klee, Eric W and Tillema, Jan-Mendelt and Payne, Eric T and Cousin, Margot A and Kruisselbrink, Teresa M and Wick, Myra J and Baker, Joshua and Haan, Eric and Smith, Nicholas and Sadeghpour, Azita and Davis, Erica E and Katsanis, Nicholas and Allori, Alexander and Angrist, Misha and Ashley, Patricia and Bidegain, Margarita and Boyd, Brita and Chambers, Eileen and Cope, Heidi and Cotten, C. Michael and Curington, Theresa and Davis, Erica E and Ellestad, Sarah and Fisher, Kimberley and French, Amanda and Gallentine, William and Goldberg, Ronald and Hill, Kevin and Kansagra, Sujay and Katsanis, Nicholas and Katsanis, Sara and Kurtzberg, Joanne and Marcus, Jeffrey and McDonald, Marie and Mikati, Mohammed and Miller, Stephen and Murtha, Amy and Perilla, Yezmin and Pizoli, Carolyn and Purves, Todd and Ross, Sherry and Sadeghpour, Azita and Smith, Edward and Wiener, John and Corbett, Mark A and MacLennan, Alastair H and Gecz, Jozef and Biskup, Saskia and Goldmann, Eva and Rodan, Lance H and Kichula, Elizabeth and Segal, Eric and Jackson, Kelly E and Asamoah, Alexander and Dimmock, David and McCarrier, Julie and Botto, Lorenzo D and Filloux, Francis and Tvrdik, Tatiana and Cascino, Gregory D and Klingerman, Sherry and ... and Deciphering Developmental Disorders Study and Task Force for Neonatal Genomics and Deciphering Dev Disorders Study and Institute of Neuroscience and Physiology and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Sahlgrenska Academy and Institutionen för neurovetenskap och fysiologi
The American Journal of Human Genetics, ISSN 0002-9297, 11/2018, Volume 103, Issue 5, pp. 666 - 678
Journal Article
by Helbig, Katherine L and Lauerer, Robert J and Bahr, Jacqueline C and Souza, Ivana A and Myers, Candace T and Uysal, Betül and Schwarz, Niklas and Gandini, Maria A and Huang, Sun and Keren, Boris and Mignot, Cyril and Afenjar, Alexandra and Billette de Villemeur, Thierry and Héron, Delphine and Nava, Caroline and Valence, Stéphanie and Buratti, Julien and Fagerberg, Christina R and Soerensen, Kristina P and Kibaek, Maria and Kamsteeg, Erik-Jan and Koolen, David A and Gunning, Boudewijn and Schelhaas, H. Jurgen and Kruer, Michael C and Fox, Jordana and Bakhtiari, Somayeh and Jarrar, Randa and Padilla-Lopez, Sergio and Lindstrom, Kristin and Jin, Sheng Chih and Zeng, Xue and Bilguvar, Kaya and Papavasileiou, Antigone and Xing, Qinghe and Zhu, Changlian and Boysen, Katja and Vairo, Filippo and Lanpher, Brendan C and Klee, Eric W and Tillema, Jan-Mendelt and Payne, Eric T and Cousin, Margot A and Kruisselbrink, Teresa M and Wick, Myra J and Baker, Joshua and Haan, Eric and Smith, Nicholas and Sadeghpour, Azita and Davis, Erica E and Katsanis, Nicholas and Allori, Alexander and Angrist, Misha and Ashley, Patricia and Bidegain, Margarita and Boyd, Brita and Chambers, Eileen and Cope, Heidi and Cotten, C. Michael and Curington, Theresa and Ellestad, Sarah and Fisher, Kimberley and French, Amanda and Gallentine, William and Goldberg, Ronald and Hill, Kevin and Kansagra, Sujay and Katsanis, Sara and Kurtzberg, Joanne and Marcus, Jeffrey and McDonald, Marie and Mikati, Mohammed and Miller, Stephen and Murtha, Amy and Perilla, Yezmin and Pizoli, Carolyn and Purves, Todd and Ross, Sherry and Smith, Edward and Wiener, John and Corbett, Mark A and MacLennan, Alastair H and Gecz, Jozef and Biskup, Saskia and Goldmann, Eva and Rodan, Lance H and Kichula, Elizabeth and Segal, Eric and Jackson, Kelly E and Asamoah, Alexander and Dimmock, David and McCarrier, Julie and Botto, Lorenzo D and Filloux, Francis and Tvrdik, Tatiana and Cascino, Gregory D and Klingerman, Sherry and Neumann, Catherine and Wang, Raymond and Jacobsen, Jessie C and ... and Deciphering Developmental Disorders Study and Task Force for Neonatal Genomics and Deciphering Dev Disorders Study and Task Force Neonatal Genomics
The American Journal of Human Genetics, ISSN 0002-9297, 03/2019, Volume 104, Issue 3, pp. 562 - 562
Journal Article
Epileptic Disorders, ISSN 1294-9361, 02/2020, Volume 22, Issue 1, pp. 33 - 38
ABSTRACT Aims: Hormonal therapy is the first‐line treatment for infantile spasms and is sometimes used in combination with topiramate for better seizure... 
West syndrome | prednisolone | adrenocorticotropic hormone | infantile spasms | epileptic spasms | topiramate | CLINICAL NEUROLOGY | Topiramate | Etiology | EEG | Epilepsy | Infants | Patients | Seizures
Journal Article
Neurologist, ISSN 1074-7931, 2017, Volume 22, Issue 5, pp. 196 - 198
Journal Article
NEUROLOGIST, ISSN 1074-7931, 09/2017, Volume 22, Issue 5, pp. 196 - 198
Introduction: Reflex epilepsies represent a form of epilepsy in which unique modes of seizure precipitation are characterized by endogenous or exogenous... 
hot water epilepsy | temporal lobe epilepsy | reflex epilepsy | pediatrics | CLOBAZAM | CLINICAL NEUROLOGY | bathing epilepsy | Water | Epilepsy, Reflex - etiology | Humans | Adolescent | Male | Epilepsy, Reflex - diagnosis | Hot Temperature | Child
Journal Article
Nature genetics, ISSN 1061-4036, 06/2012, Volume 44, Issue 6, pp. 659 - 669
Journal Article