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Nature Genetics, ISSN 1061-4036, 2014, Volume 46, Issue 5, pp. 503 - 509
Journal Article
Journal Article
Brain : a journal of neurology, ISSN 0006-8950, 08/2019, Volume 142, Issue 10, pp. 2965 - 2978
Basal ganglia are subcortical grey nuclei that play essential roles in controlling voluntary movements, cognition and emotion. While basal ganglia dysfunction... 
homeobox | basal ganglia | Original | GSX2 | lateral ganglionic eminence | diencephalic-mesencephalic junction
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 09/2019, Volume 61, Issue 9, pp. 1101 - 1107
Relapses of anti‐N‐methyl‐D‐aspartate receptor encephalitis may span over a long period. Relapses were not associated with severity in the acute phase or... 
ANTIBODIES | AUTOIMMUNE | CSF | PEDIATRICS | CEREBROSPINAL-FLUID | CLINICAL NEUROLOGY | CHILDREN
Journal Article
Neuropediatrics, ISSN 0174-304X, 06/2018, Volume 49, Issue 3, pp. 217 - 221
Abstract Adams–Oliver syndrome (AOS) is characterized by a combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb... 
Short Communication | DOCK6 | Adams-Oliver syndrome | AOS-variants | atypical absences | epileptic encephalopathy
Journal Article
Journal of Neurology, ISSN 0340-5354, 5/2019, Volume 266, Issue 5, pp. 1167 - 1181
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 ... and Epi25 Collaborative and Epi25 Collaborative. Electronic address: s.berkovic@unimelb.edu.au
American journal of human genetics, ISSN 0002-9297, 08/2019, Volume 105, Issue 2, p. 267
Sequencing-based studies have identified novel risk genes associated with severe epilepsies and revealed an excess of rare deleterious variation in less-severe... 
Journal Article
European Journal of Medical Genetics, ISSN 1769-7212, 09/2019, Volume 62, Issue 9, p. 103555
The gene, widely expressed in the brain, encodes a voltage-gated potassium channel (Kv7.5) important for neuronal function. Here, we report a novel intragenic... 
Array-CGH | Absence epilepsy in adolescence | Intellectual disability | Duplication | Exon skipping | 6q13 | GENETICS & HEREDITY | MUTATIONS | EPILEPSY
Journal Article
Neuropediatrics, ISSN 0174-304X, 10/2019, Volume 50, Issue 5, pp. 327 - 331
Abstract The X-linked alpha thalassemia mental retardation (ATR-X) syndrome is a genetic disorder caused by X-linked recessive mutations in ATRX gene, related... 
Short Communication | MENTAL-RETARDATION | PEDIATRICS | premature pubarche | myoclonus-dystonia | ATR-X syndrome | epileptic encephalopathy | X SYNDROME | CLINICAL NEUROLOGY
Journal Article
Journal Article