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Nature Genetics, ISSN 1061-4036, 09/2013, Volume 45, Issue 9, pp. 1067 - 1072
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 08/2016, Volume 87, Issue 8, pp. 897 - 905
Journal Article
Neurology, ISSN 0028-3878, 08/2017, Volume 89, Issue 9, pp. 900 - 908
Journal Article
Journal of Neurology, ISSN 0340-5354, 9/2015, Volume 262, Issue 9, pp. 2124 - 2134
Journal Article
EUROPEAN JOURNAL OF HUMAN GENETICS, ISSN 1018-4813, 02/2018, Volume 26, Issue 2, pp. 258 - 264
Rolandic epilepsy (RE) is the most common focal epilepsy in childhood. To date no hypothesis-free exome-wide mutational screen has been conducted for RE and... 
FRAMEWORK | AUTISM | VARIANTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENES | GENETICS & HEREDITY | Exome | Loss of Function Mutation | Epilepsy, Rolandic - pathology | Epilepsy, Rolandic - genetics | Humans | Adolescent | Female | Male | Child | Receptors, N-Methyl-D-Aspartate - genetics | Epilepsy | Children
Journal Article
PLoS ONE, ISSN 1932-6203, 03/2016, Volume 11, Issue 3, p. e0150426
Journal Article
Neuropediatrics, ISSN 0174-304X, 10/2018, Volume 49, Issue S 02
Conference Proceeding
ANNALS OF NEUROLOGY, ISSN 0364-5134, 06/2015, Volume 77, Issue 6, pp. 972 - 986
ObjectiveTo test whether mutations in -aminobutyric acid type A receptor (GABA(A)-R) subunit genes contribute to the etiology of rolandic epilepsy (RE) or its... 
PSEUDO-LENNOX-SYNDROME | GRIN2A MUTATIONS | PALMITOYLATION | BENIGN PARTIAL EPILEPSY | GAMMA-2 SUBUNIT | CHILDHOOD EPILEPSY | MECHANISMS | GABA(A) RECEPTORS | NEUROSCIENCES | FOCAL EPILEPSIES | CLINICAL NEUROLOGY | GABRG2 MUTATION | Confidence intervals | Genes | Mutation
Journal Article
by Kasperavičiūtė, Dalia and Catarino, Claudia B and Matarin, Mar and Leu, Costin and Novy, Jan and Tostevin, Anna and Leal, Bárbara and Hessel, Ellen V. S and Hallmann, Kerstin and Hildebrand, Michael S and Dahl, Hans-Henrik M and Ryten, Mina and Trabzuni, Daniah and Ramasamy, Adaikalavan and Alhusaini, Saud and Doherty, Colin P and Dorn, Thomas and Hansen, Jörg and Krämer, Günter and Steinhoff, Bernhard J and Zumsteg, Dominik and Duncan, Susan and Kälviäinen, Reetta K and Eriksson, Kai J and Kantanen, Anne-Mari and Pandolfo, Massimo and Gruber-Sedlmayr, Ursula and Schlachter, Kurt and Reinthaler, Eva M and Stogmann, Elisabeth and Zimprich, Fritz and Théâtre, Emilie and Smith, Colin and O’Brien, Terence J and Meng Tan, K and Petrovski, Slave and Robbiano, Angela and Paravidino, Roberta and Zara, Federico and Striano, Pasquale and Sperling, Michael R and Buono, Russell J and Hakonarson, Hakon and Chaves, João and Costa, Paulo P and Silva, Berta M and da Silva, António M and de Graan, Pierre N. E and Koeleman, Bobby P. C and Becker, Albert and Schoch, Susanne and von Lehe, Marec and Reif, Philipp S and Rosenow, Felix and Becker, Felicitas and Weber, Yvonne and Lerche, Holger and Rössler, Karl and Buchfelder, Michael and Hamer, Hajo M and Kobow, Katja and Coras, Roland and Blumcke, Ingmar and Scheffer, Ingrid E and Berkovic, Samuel F and Weale, Michael E and Delanty, Norman and Depondt, Chantal and Cavalleri, Gianpiero L and Kunz, Wolfram S and Sisodiya, Sanjay M and UK Brain Expression Consortium
Brain, ISSN 0006-8950, 10/2013, Volume 136, Issue 10, pp. 3140 - 3150
Journal Article