Rikke S. Møller

发表

Stephan J Sanders, P. Striano, G. Rubboli, 2023, Annals of neurology.

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

De novo SCN3A missense variant associated with self-limiting generalized epilepsy with fever sensitivity.

E. Gardella, R. S. Møller, K. Johannesen, 2022, European journal of medical genetics.

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies

I. Scheffer, M. Kattan, C. Depienne, 2022, Neurology.

Aberrant expression of miR‐218 and miR‐204 in human mesial temporal lobe epilepsy and hippocampal sclerosis—Convergence on axonal guidance

J. Kjems, A. Silahtaroglu, S. Kauppinen, 2014, Epilepsia.

Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes

P. May, M. Nothnagel, S. Schorge, 2022, bioRxiv.

KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of-function mechanism

H. Mefford, O. Devinsky, A. Bayat, 2022, EBioMedicine.

Using common genetic variants to find drugs for common epilepsies

David F. Smith, C. Gieger, I. Scheffer, 2021, Brain Communications.

STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG

K. Linkenkaer-Hansen, P. Striano, H. Mansvelder, 2021, Frontiers in Physiology.

Data-driven historical characterization of epilepsy-associated genes.

P. May, E. Pérez-Palma, D. Lal, 2022, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood.

S. Sisodiya, J. Cross, A. Basu, 2021, Neurology.

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy

E. van Binsbergen, W. Dobyns, N. Matsumoto, 2017, Brain : a journal of neurology.

Current practice in diagnostic genetic testing of the epilepsies

S. Sisodiya, S. Berkovic, H. Lerche, 2022, Epileptic disorders : international epilepsy journal with videotape.

Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition

J. D. Mills, I. Scheffer, S. Sisodiya, 2023, Brain : a journal of neurology.

The phenotypic presentation of adult individuals with SLC6A1-related neurodevelopmental disorders

G. Rubboli, B. Isidor, A. Sabers, 2023, Frontiers in neuroscience.

Expanding the pre- and postnatal phenotype of WASHC5 and CCDC22 -related Ritscher-Schinzel syndromes.

A. Bayat, A. Fortuna, M. Willis, 2022, European journal of medical genetics.

The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications

I. Scheffer, E. Wirrell, S. Weiss, 2022, Brain : a journal of neurology.

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood

Colin A. Ellis, I. Scheffer, P. Striano, 2022, Neurology.

Structural mapping of GABRB3 variants reveals genotype-phenotype correlation

H. Firth, P. Striano, M. Haeusler, 2021, medRxiv.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Ethan M. Goldberg, S. Scherer, J. Howe, 2021, medRxiv.

The phenotypic spectrum of SCN8A encephalopathy

G. Carvill, I. Scheffer, H. Mefford, 2015, Neurology.

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications Short SCN8A -related genotype-phenotype correlations

Ethan M. Goldberg, Zara, Silvana, 2021 .

Neurologic phenotypes associated with COL4A1/2 mutations

D. Werring, P. Striano, S. Sisodiya, 2018, Neurology.

Neurologic phenotypes associated with COL4A1 / 2 mutations Expanding the spectrum of disease

D. Werring, P. Striano, S. Sisodiya, 2022 .

Expanding the spectrum of disease

D. Werring, E. Gardella, D. Mei, 2022 .

Ethan M. Goldberg, A. Munnich, E. Goldberg, 2018, Genetics in Medicine.

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

Michael R. Johnson, A. Uitterlinden, P. May, 2018, The Lancet Neurology.

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

J. Shendure, G. Carvill, I. Scheffer, 2014, Neurology.

Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs.

M. Ensslen, R. Møller, K. Rostásy, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Gene family information facilitates variant interpretation and identification of disease-associated genes

M. Daly, P. May, R. Krause, 2017, bioRxiv.

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome

D. Montanaro, R. Borgatti, F. Zara, 2020, Neurology.

Functional Effects of Epilepsy Associated KCNT1 Mutations Suggest Pathogenesis via Aberrant Inhibitory Neuronal Activity

G. Rubboli, L. Dibbens, G. Rychkov, 2022, International journal of molecular sciences.

Clinical spectrum of STX1B-related epileptic disorders

A. Pagnamenta, P. May, W. van Paesschen, 2019, Neurology.

The Spectrum of de novo Variants in Neurodevelopmental Disorders with Epilepsy

P. Striano, J. Kosmicki, Manuela Pendziwiat, 2017, bioRxiv.

Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin

H. Stefánsson, P. Striano, C. Depondt, 2023, Frontiers in Neuroscience.

SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy

P. Striano, S. Topp, K. Hamandi, 2022, medRxiv.

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

H. Mefford, P. May, R. Krause, 2017, American journal of human genetics.

University of Southern Denmark Predicting functional effects of missense variants in voltage-gated sodium and calcium channels Heyne,

P. May, S. Iqbal, H. Heyne, 2019 .

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

Michael R. Johnson, I. Scheffer, D. Goldstein, 2014, The Lancet Neurology.

D-galactose supplementation for the treatment of mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE): a trial of precision medicine after epilepsy surgery

A. Gil-Nagel, C. Fenger, Á. Aledo-Serrano, 2023 .

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

Ethan M. Goldberg, Andreas M. Koupparis, W. C. Stewart, 2023, Nature Genetics.

author-version of: De novo variants in neurodevelopmental disorders with epilepsy

J. Serratosa, J. Kosmicki, Manuela Pendziwiat, 2022 .

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.

G. Carvill, I. Scheffer, H. Mefford, 2018, American journal of human genetics.

Clinical and genetic spectrum of SCN2A-associated episodic ataxia.

P. Striano, H. Lerche, L. Griffiths, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy

C. V. van Eyk, Rebekah de Nys, Rikke S. Møller, 2024, Translational psychiatry.

Molecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of four SCN2A variants

William R. Martin, A. Brunklaus, Tobias Brünger, 2024, bioRxiv.

Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia

H. Lerche, E. Gaily, E. Gardella, 2023, medRxiv.

Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Rebecca C. Spillmann, R. Pfundt, J. Gécz, 2023, The Journal of clinical investigation.

Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment

S. Weckhuysen, R. Flamini, K. Johannesen, 2023, Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics.

Clinical spectrum of STX1B-related epileptic disorders

A. Pagnamenta, P. May, W. van Paesschen, 2019, Neurology.