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1-17 of 17
Authors: Johannes R. Lemke
Journal Article
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes
Brain, Volume 147, Issue 5, May 2024, Pages 1837–1855, https://doi.org/10.1093/brain/awad403
Published: 01 December 2023
Journal Article
SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis
Brain, Volume 146, Issue 12, December 2023, Pages 5198–5208, https://doi.org/10.1093/brain/awad292
Published: 30 August 2023
Journal Article
Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition
Brain, Volume 146, Issue 9, September 2023, Pages 3885–3897, https://doi.org/10.1093/brain/awad111
Published: 03 April 2023
Journal Article
The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
Brain, Volume 146, Issue 8, August 2023, Pages 3273–3288, https://doi.org/10.1093/brain/awad039
Published: 09 February 2023
Journal Article
EDITOR'S CHOICE
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes
Brain, Volume 146, Issue 3, March 2023, Pages 923–934, https://doi.org/10.1093/brain/awac305
Published: 29 August 2022
Journal Article
Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy
Brain, Volume 145, Issue 4, April 2022, Pages 1299–1309, https://doi.org/10.1093/brain/awab391
Published: 11 October 2021
Journal Article
Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications
Brain, Volume 145, Issue 9, September 2022, Pages 2991–3009, https://doi.org/10.1093/brain/awab321
Published: 25 August 2021
Journal Article
Predicting incidences of neurodevelopmental disorders
Brain, Volume 143, Issue 4, April 2020, Pages 1046–1048, https://doi.org/10.1093/brain/awaa079
Published: 21 April 2020
Journal Article
Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy
Brain, Volume 142, Issue 10, October 2019, Pages 3009–3027, https://doi.org/10.1093/brain/awz232
Published: 31 August 2019
Journal Article
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size
Brain, Volume 142, Issue 9, September 2019, Pages 2617–2630, https://doi.org/10.1093/brain/awz198
Published: 20 July 2019
Journal Article
EDITOR'S CHOICE
GRIN2A-related disorders: genotype and functional consequence predict phenotype
Brain, Volume 142, Issue 1, January 2019, Pages 80–92, https://doi.org/10.1093/brain/awy304
Published: 12 December 2018
Journal Article
EDITOR'S CHOICE
HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond
Brain, Volume 141, Issue 11, November 2018, Pages 3160–3178, https://doi.org/10.1093/brain/awy263
Published: 22 October 2018
Journal Article
De novo mutations in GRIN1 cause extensive bilateral polymicrogyria
Brain, Volume 141, Issue 3, March 2018, Pages 698–712, https://doi.org/10.1093/brain/awx358
Published: 22 January 2018
Journal Article
Clinical spectrum and genotype–phenotype associations of KCNA2-related encephalopathies
Brain, Volume 140, Issue 9, September 2017, Pages 2337–2354, https://doi.org/10.1093/brain/awx184
Published: 24 August 2017
Journal Article
EDITOR'S CHOICE
Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy
Brain, Volume 140, Issue 9, September 2017, Pages 2322–2336, https://doi.org/10.1093/brain/awx195
Published: 24 August 2017
Journal Article
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Brain, Volume 140, Issue 5, May 2017, Pages 1316–1336, https://doi.org/10.1093/brain/awx054
Published: 04 April 2017
Journal Article
De novo GABRG2 mutations associated with epileptic encephalopathies
Brain, Volume 140, Issue 1, January 2017, Pages 49–67, https://doi.org/10.1093/brain/aww272
Published: 17 November 2016
