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PLoS ONE, ISSN 1932-6203, 03/2016, Volume 11, Issue 3, p. e0150426
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2013, Volume 45, Issue 9, pp. 1067 - 1072
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
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
Human Molecular Genetics, ISSN 0964-6906, 11/2014, Volume 23, Issue 22, pp. 6069 - 6080
Journal Article
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