Rikke S. Møller

Research interests

Publications

• GRIN2A -related disorders: genotype and functional consequence predict phenotype

  Brain · 2018 · https://doi.org/10.1093/brain/awy304

• The landscape of epilepsy-related GATOR1 variants

  Genetics in Medicine · 2018 · https://doi.org/10.1038/s41436-018-0060-2

• De novo variants in neurodevelopmental disorders with epilepsy

  Nature Genetics · 2018 · https://doi.org/10.1038/s41588-018-0143-7

• Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

  Nature Communications · 2018 · 10.1038/s41467-018-07524-z

• Progress in Understanding and Treating SCN2A-Mediated Disorders

  Trends in Neurosciences · 2018 · https://doi.org/10.1016/j.tins.2018.03.011

• Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

  Brain · 2017 · https://doi.org/10.1093/brain/awx054

• GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

  Journal of Medical Genetics · 2017 · https://doi.org/10.1136/jmedgenet-2016-104509

• De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies

  The American Journal of Human Genetics · 2016 · https://doi.org/10.1016/j.ajhg.2016.06.003

• STXBP1 encephalopathy

  Neurology · 2016 · https://doi.org/10.1212/wnl.0000000000002457

• Delineating the GRIN1 phenotypic spectrum

  Neurology · 2016 · https://doi.org/10.1212/wnl.0000000000002740

• The phenotypic spectrum of SCN8A encephalopathy

  Neurology · 2015 · https://doi.org/10.1212/wnl.0000000000001211

• The phenotypic spectrum of SCN8A encephalopathy

  Neurology · 2015 · https://doi.org/10.1212/wnl.0000000000001211

• Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

  The American Journal of Human Genetics · 2015 · https://doi.org/10.1016/j.ajhg.2015.02.016

• De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy

  Nature Genetics · 2015 · https://doi.org/10.1038/ng.3239

• A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

  Nature Genetics · 2014 · https://doi.org/10.1038/ng.3144

• GABRA1 and STXBP1 : Novel genetic causes of Dravet syndrome

  Neurology · 2014 · https://doi.org/10.1212/wnl.0000000000000291

• Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes

  Nature Genetics · 2014 · https://doi.org/10.1038/ng.3130

• De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

  The American Journal of Human Genetics · 2014 · https://doi.org/10.1016/j.ajhg.2014.08.013

• Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2728

• Extending the KCNQ2 encephalopathy spectrum

  Neurology · 2013 · https://doi.org/10.1212/01.wnl.0000435296.72400.a1

• De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome

  The American Journal of Human Genetics · 2013 · https://doi.org/10.1016/j.ajhg.2013.09.017

• Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2646

• Mutations inSYNGAP1Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

  Human Mutation · 2012 · https://doi.org/10.1002/humu.22248

• 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

  Nature Genetics · 2009 · https://doi.org/10.1038/ng.292

• Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

  Brain · 2009 · https://doi.org/10.1093/brain/awp262

• Recurrent Reciprocal Genomic Rearrangements of 17q12 Are Associated with Renal Disease, Diabetes, and Epilepsy

  The American Journal of Human Genetics · 2007 · https://doi.org/10.1086/522591

Current projects

No projects listed.