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Neuropediatrics, ISSN 0174-304X, 10/2018, Volume 49, Issue 5, pp. 342 - 346
Abstract Mutations in the ATP1A3 gene are known to cause alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism (RDP). Both conditions... 
Short Communication | apnea | autonomic seizures | developmental delay | epilepsy genetics | DE-NOVO MUTATIONS | ALTERNATING HEMIPLEGIA | DISORDERS | PEDIATRICS | CHILDHOOD | CLINICAL NEUROLOGY
Journal Article
Neuropediatrics, 10/2018, Volume 49, Issue 5, p. 342
Mutations in the gene are known to cause alternating hemiplegia of childhood (AHC) and rapid-onset dystonia parkinsonism (RDP). Both conditions are... 
Journal Article
Neuropediatrics, 02/2017, Volume 48, Issue 1, p. 5
Febrile infection-related epilepsy syndrome (FIRES, AERRPS, or DESC) is one of the most severe, mostly irreversible, and presumably immune-mediated epileptic... 
Status Epilepticus - diagnosis | Diagnosis, Differential | Humans | Status Epilepticus - etiology | Acute Febrile Encephalopathy - complications | Status Epilepticus - therapy | Status Epilepticus - epidemiology | Acute Febrile Encephalopathy - epidemiology
Journal Article
Journal Article
Journal Article
Epilepsia, ISSN 0013-9580, 2010, Volume 51, Issue 9, pp. 1870 - 1873
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 04/2018, Volume 102, Issue 4, pp. 557 - 573
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 12/2012, Volume 54, Issue 12, pp. 1144 - 1148
Journal Article
by Devinsky, Orrin and Rapaport, Mark H and Castellotti, Barbara and Kluger, Gerhard and McQuillin, Andrew and Rees, Mark I and Mountier, Emily and Zsurka, Gabor and Stipa, Carlotta and Bauer, Jurgen and Salpietro, Vincenzo and Krause, Roland and French, Jacqueline A and Guerrini, Renzo and Kousiappa, Ioanna and Palotie, Aarno and Cotsapas, Chris and Manna, Lorella and Cossette, Patrick and Tinuper, Paolo and Bennett, Caitlin A and Hakonarson, Hakon and Inoue, Yushi and Muhle, Hiltrud and Piras, Federica and Lander, Eric S and Stanley, Kate E and Blatt, Ilan and Freyer, Catharine and Bromet, Evelyn J and Byrnes, Andrea and Braatz, Vera and van Baalen, Andreas and Suzuki, Toshimitsu and Pato, Michele T and Kurlemann, Gerhard and Franceschetti, Silvana and Piras, Fabrizio and Hegde, Manu and Todaro, Marian and Dennig, Dieter and Knake, Susanne and Privitera, Michael and Madia, Francesca and Mo, Kelly and Iacomino, Michele and Tanteles, George A and Gabriel, Stacey B and Rosenow, Felix and Ugur-Iseri, Sibel and Chung, Seo-Kyung and Schneider, Natascha and Delanty, Norman and Churchhouse, Claire and Shilling, Hannah and Rademacher, Annika and Helbig, Katherine L and Buono, Russell J and Bisulli, Francesca and Arslan, Mutluay and Schreiber, Herbert and Yamakawa, Kazuhiro and Berkovic, Samuel F and Sterbova, Katalin and Lal, Dennis and King, Chontelle and Canavati, Christina and Lui, Colin H.T and Sadoway, Tara R and Wolking, Stefan and Sham, Pak C and Hausler, Martin and Andrade, Danielle M and Sills, Graeme J and Borggrafe, Ingo and Baykan, Betul and Leu, Costin and Dlugos, Dennis J and Krestel, Heinz and Krey, Ilona and Schulze-Bonhage, Andreas and Kesim, Yesim and Baum, Larry W and Stamberger, Hannah and Gallati, Sabina and Pato, Carlos N and Mancardi, Maria Margherita and Cherny, Stacey S and McCarroll, Steven A and Pendziwiat, Manuela and Marini, Carla and Granata, Tiziana and Gili, Tommaso and Madeleyn, Rene and Weckhuysen, Dorien and Hengsbach, Christian and Regan, Brigid M and Elger, Christian E and Lemke, Johannes R and Kuzniecky, Ruben I and ...
American Journal of Human Genetics, ISSN 0002-9297, 08/2019, Volume 105, Issue 2, p. 267
Epi25 Collaborative (*) Keywords epilepsy; seizures; epileptic encephalopathy; exome; sequencing; burden analysis Sequencing-based studies have identified... 
Journal Article