R. Møller

E. Musto, R. Møller, E. Gardella, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations

Z. Tümer, N. Tommerup, H. Ropers, 2011, Human mutation.

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Jen Q. Pan, M. Daly, P. May, 2019, Science Translational Medicine.

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Jen Q. Pan, M. Daly, P. May, 2019, Science Translational Medicine.

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies

N. Absalom, R. Møller, K. Jansen, 2020, Brain communications.

Clinical Phenotype of De Novo GNAO1 Mutation

R. Møller, P. Ilves, I. Talvik, 2015, Child neurology open.

Clinical Phenotype of De Novo GNAO 1 Mutation : Case Report and Review of Literature

R. Møller, P. Ilves, I. Talvik, 2015 .

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

J. Shendure, G. Carvill, I. Scheffer, 2013, Nature Genetics.

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

S. Topp, M. Simpson, P. Fallon, 2020, Epilepsia.

Assessing the landscape of STXBP1-related disorders in 534 individuals

Colin A. Ellis, P. Striano, F. Zara, 2021, Brain : a journal of neurology.

Structural genomic variation in childhood epilepsies with complex phenotypes

M. Poot, U. Stephani, N. Tommerup, 2013, European Journal of Human Genetics.

Pitfalls in genetic testing: the story of missed SCN1A mutations

G. Carvill, I. Scheffer, H. Mefford, 2016, Molecular genetics & genomic medicine.

Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

Michael R. Johnson, I. Scheffer, H. Mefford, 2017 .

Impact of Genetic Testing on Therapeutic Decision-Making in Childhood-Onset Epilepsies—a Study in a Tertiary Epilepsy Center

G. Rubboli, R. Møller, A. Bayat, 2022, Neurotherapeutics.

Mild malformations of cortical development in sleep‐related hypermotor epilepsy due to KCNT1 mutations

P. Kahane, G. Plazzi, M. Bramerio, 2018, Annals of clinical and translational neurology.

University of Southern Denmark Mild malformations of cortical development in sleep-related hypermotor epilepsy due to KCNT1 mutations Rubboli,

P. Kahane, G. Plazzi, M. Bramerio, 2019 .

Mutations in NRXN1 in a family multiply affected with brain disorders: NRXN1 mutations and brain disorders

A. Ingason, K. D. Jakobsen, T. Werge, 2012, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

H. Muhle, R. Møller, D. Beysen, 2022, Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics.

P. Kind, J. Hentschel, D. Mitter, 2018, Brain : a journal of neurology.

Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy.

P. Striano, G. Rubboli, R. Møller, 2022, European journal of medical genetics.

NIPA1 mutation in complex hereditary spastic paraplegia with epilepsy

E. Budtz-Jørgensen, R. Møller, J. Christensen, 2011, European journal of neurology.

Chewing induced reflex seizures (“eating epilepsy”) and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases

A. Coppola, F. Zara, R. Møller, 2019, Seizure.

Genetic heterogeneity in infantile spasms

H. Mefford, P. Striano, J. Serratosa, 2019, Epilepsy Research.

Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers

R. Møller, K. Johannesen, 2015, Neurotherapeutics.

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Z. Tümer, K. Bhatia, H. Lerche, 2022, Clinical genetics.

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

B. Steinhoff, N. Tommerup, H. Lerche, 2016, Annals of neurology.

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation.

J. Gécz, B. Bloem, S. Berkovic, 2013, Brain : a journal of neurology.

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2016, European Journal of Human Genetics.

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy

Holger Lerche, Peter Nürnberg, Andre Franke, 2013, Epilepsia.

Testing association of rare genetic variants with resistance to three common antiseizure medications

Michael R. Johnson, Josemir W Sander, R. Krause, 2020, Epilepsia.

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.

Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val

H. Lerche, R. Møller, K. Johannesen, 2016, Journal of Neurology.

Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variants

F. Benfenati, P. Striano, A. Coppola, 2020, Neurology Genetics.

Delineating the GRIN1 phenotypic spectrum A distinct genetic NMDA receptor encephalopathy

D. Misceo, J. Hentschel, V. Narayanan, 2022 .

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

K. Devriendt, G. Scarano, A. Toutain, 2018, Genetics in Medicine.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

Clinician’s guide to genes associated with Rett‐like phenotypes—Investigation of a Danish cohort and review of the literature

Z. Tümer, R. Møller, J. Christodoulou, 2019, Clinical genetics.

University of Southern Denmark Clinician's guide to genes associated with Rett-like phenotypes Investigation of a Danish cohort and review of the literature

Z. Tümer, R. Møller, J. Christodoulou, 2017 .

The landscape of epilepsy-related GATOR1 variants

A. Biraben, F. Bartolomei, P. Striano, 2018, Genetics in Medicine.

Balanced translocation in a patient with severe myoclonic epilepsy of infancy disrupts the sodium channel gene SCN1A

Z. Tümer, N. Tommerup, R. Møller, 2008, Epilepsia.

A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

A. Silahtaroglu, N. Tommerup, R. Møller, 2011, Epilepsia.

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

C. Baker, H. Mefford, E. Eichler, 2010, Brain : a journal of neurology.

Erratum: Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy (Epilepsia (2013) 54 (256-264) DOI:10.1111/epi.12517)

H. Mefford, C. Elger, A. Scabar, 2013 .

Correction: RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

H. Lerche, H. Muhle, R. Møller, 2013, PLoS ONE.

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

U. Stephani, H. Lerche, J. Serratosa, 2013, Nature Genetics.

Efficacy, Tolerability, and Retention of Antiseizure Medications in PRRT2-Associated Infantile Epilepsy

Manuela Pendziwiat, H. Muhle, R. Møller, 2022, Neurology: Genetics.

Dysregulation of FOXG1 by ring chromosome 14

N. Tommerup, R. Møller, H. Hjalgrim, 2015, Molecular Cytogenetics.

Mowat–Wilson syndrome: an underdiagnosed syndrome?

Z. Tümer, N. Tommerup, R. Møller, 2008, Clinical Genetics.

Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder

R. Weksberg, N. Drouot, Y. Hérault, 2021, Genetics in Medicine.

Parental mosaicism in epilepsies due to alleged de novo variants

J. Hentschel, R. Møller, D. Pal, 2019, Epilepsia.

Extending the KCNQ2 encephalopathy spectrum

I. Scheffer, P. Striano, R. Møller, 2013, Neurology.

Fluorescently labelled bovine acyl-CoA-binding protein acting as an acyl-CoA sensor: interaction with CoA and acyl-CoA esters and its use in measuring free acyl-CoA esters and non-esterified fatty acids.

P. Højrup, R. Møller, B. Kragelund, 2002, The Biochemical journal.

Mowat-Wilson syndrome: growth charts

J. Clayton-Smith, S. Bernasconi, R. Møller, 2020, Orphanet Journal of Rare Diseases.

Mutations in KCNT1 cause a spectrum of focal epilepsies

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

Integrating Technical and Training Documentation Workshop ITS 2002 Conference

P. Ryvlin, R. Møller, E. Gardella, 2002 .

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

N. de Leeuw, J. Tolmie, Z. Tümer, 2013, Human Genetics.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

P. Striano, U. Stephani, M. Simpson, 2015, Epilepsia.

The de novo GABRA4 p.Thr300Ile variant found in a patient with early‐onset intractable epilepsy and neurodevelopmental abnormalities displays gain‐of‐function traits

N. Absalom, R. Møller, Susan Lin, 2022, Epilepsia.

Balanced chromosomal rearrangements offer insights into coding and noncoding genomic features associated with developmental disorders

Erez Lieberman Aiden, Ryan L. Collins, S. G. Temel, 2022, medRxiv.

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

P. Striano, J. Jacobs, N. Absalom, 2022, Nature Communications.

CHD2 variants are a risk factor for photosensitivity in epilepsy

I. Scheffer, H. Mefford, R. Krause, 2015, Brain : a journal of neurology.

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

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

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

Christian E Elger, Holger Lerche, Ulrich Stephani, 2009, Nature Genetics.

Pyridoxine or pyridoxal‐5‐phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study

C. Korff, R. Møller, A. Bayat, 2022, Developmental medicine and child neurology.

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

N. Tommerup, G. Rubboli, R. Møller, 2016, Molecular Syndromology.

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

L. Lagae, P. Striano, T. Loddenkemper, 2017, Brain : a journal of neurology.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN 2 A-related disorders

L. Lagae, P. Striano, T. Loddenkemper, 2017 .

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

I. Scheffer, H. Mefford, M. Mackay, 2020, Genetics in Medicine.

Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations.

R. Møller, H. Hjalgrim, E. Hirsch, 2019, Epileptic disorders : international epilepsy journal with videotape.

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

G. Carvill, I. Scheffer, H. Mefford, 2015, American journal of human genetics.

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

J. Roach, P. May, D. Galas, 2014, Nature Genetics.

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

C. Gieger, I. Scheffer, T. Wienker, 2012, Human molecular genetics.

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

Ethan M. Goldberg, Carol J. Saunders, C. Saunders, 2017, JAMA neurology.

Clinical spectrum and genotype‐phenotype associations of KCNA2‐related encephalopathies

J. Conroy, S. Sisodiya, H. Lerche, 2017, Brain : a journal of neurology.

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients

Manuela Pendziwiat, R. Møller, I. Helbig, 2016, Molecular genetics & genomic medicine.

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family

N. Tommerup, R. Møller, S. Baig, 2019, The International journal of neuroscience.

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

Orrin Devinsky, Eric Marsh, Pasquale Striano, 2016, Journal of Medical Genetics.

Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers

I. Scheffer, C. Korff, R. Møller, 2013, Epilepsia.

SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy.

L. Lagae, R. Møller, K. Jansen, 2021, Neuropediatrics.

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Oriane Trouillard, Christel Depienne, Emmanuel Roze, 2014, Nature Genetics.

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

From next-generation sequencing to targeted treatment of non-acquired epilepsies

G. Rubboli, R. Møller, J. Lemke, 2019, Expert review of molecular diagnostics.

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

M. Daly, I. Scheffer, A. Palotie, 2014, Nature Genetics.

Exon‐disrupting deletions of NRXN1 in idiopathic generalized epilepsy

H. Mefford, H. Wichmann, U. Stephani, 2013, Epilepsia.

Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency

J. Lacaille, N. Tommerup, M. Tarnopolsky, 2013, Human mutation.

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

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties

C. Reid, J. Massano, D. Friedman, 2017, Annals of neurology.

Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.

Reinhard Ullmann, Zeynep Tümer, Niels Tommerup, 2008, American journal of human genetics.

Current knowledge of SLC6A1-related neurodevelopmental disorders

A. Scimemi, V. Crunelli, C. Brownstein, 2020, Brain communications.

Progress in Understanding and Treating SCN2A-Mediated Disorders

Stephan J Sanders, D. Malhotra, W. Chung, 2018, Trends in Neurosciences.

X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

J. Tolmie, Z. Tümer, R. Møller, 2014, Human Genetics.

A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants

R. Møller, E. Pérez-Palma, D. Lal, 2020, Brain : a journal of neurology.

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

R. Rosch, M. A. Basson, Z. Tümer, 2021, Clinical genetics.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

H. Mefford, R. Møller, M. Shinawi, 2020, Genetics in Medicine.

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

Christian Gieger, Norman Delanty, Ellen Campbell, 2018, Nature Communications.

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice

E. Lemyre, R. Møller, H. Hjalgrim, 2019, Journal of Medical Genetics.

Sequence analysis of 17 NRXN1 deletions

D. Rujescu, A. Ingason, T. Hansen, 2014, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.

H. Mefford, E. Eichler, D. Pinkel, 2007, American journal of human genetics.

Syddansk Universitet Progress in Understanding and Treating SCN 2 A-Mediated Disorders

Stephan J Sanders, D. Malhotra, J. Hipp, 2018 .

Progress in understanding and treating SCN 2 A-mediated disorders 1 2

Stephan J Sanders, D. Malhotra, J. Hipp, 2018 .

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

Anne, Ruppert, Michael R. Johnson, 2018 .

Biological concepts in human sodium channel epilepsies and their relevance in clinical practice

Jen Q. Pan, Stephan J Sanders, H. Lerche, 2020, Epilepsia.

Incorporating epilepsy genetics into clinical practice: a 360°evaluation

R. Rosch, R. Møller, D. Pal, 2018, npj Genomic Medicine.

The contribution of next generation sequencing to epilepsy genetics

R. Møller, I. Helbig, H. A. Dahl, 2015, Expert review of molecular diagnostics.

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.

Delineating the GRIN1 phenotypic spectrum

D. Misceo, L. de Meirleir, J. Hentschel, 2016, Neurology.

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy

I. Scheffer, P. Striano, A. Becker, 2019, Epilepsia.

Deletion of 7q34–q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

Reinhard Ullmann, Zeynep Tümer, Niels Tommerup, 2010, American journal of medical genetics. Part A.

Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies

P. Striano, A. Coppola, S. Sisodiya, 2021, Journal of Neurology, Neurosurgery, and Psychiatry.

Involvement of Mitochondrial Dysfunction in FOXG1 Syndrome

Z. Tümer, R. Møller, Trine B. Hammer, 2023, Genes.

Human induced pluripotent cells in personalized treatment of monogenic epilepsies

Z. Tümer, R. Møller, K. Freude, 2020 .

Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development

N. Papadopoulos, Z. Tümer, N. Tommerup, 2009, European Journal of Human Genetics.

MECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome

M. D'Esposito, R. Møller, T. Durand, 2016, PloS one.

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

M. Daly, P. May, R. Krause, 2020, Genome Medicine.

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

R. Pfundt, G. Carvill, I. Scheffer, 2018, Annals of neurology.

Epilepsy Genetics and Precision Medicine in Adults: A New Landscape for Developmental and Epileptic Encephalopathies

R. Toledano, R. Møller, E. Pérez-Palma, 2022, Frontiers in Neurology.

Utility of genetic testing for therapeutic decision‐making in adults with epilepsy

G. Rubboli, R. Møller, K. Johannesen, 2020, Epilepsia.

DNM1 encephalopathy

I. Scheffer, H. Kirsch, S. Sisodiya, 2017, Neurology.

Early mortality in SCN8A-related epilepsies

I. Scheffer, G. Rubboli, R. Møller, 2018, Epilepsy Research.

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

D. Mitter, G. Rubboli, R. Møller, 2019, Neurology. Genetics.

The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Undiagnosed Diseases Network, J. Rosenfeld, N. Brown, 2021, Human mutation.

Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

P. Stankiewicz, K. Bowling, Yaping Yang, 2021, American journal of medical genetics. Part A.

Deciphering the premature mortality in PIGA-CDG – An untold story

Z. Tümer, G. Rubboli, R. Møller, 2020, Epilepsy Research.

Phenotypic and genetic spectrum of SCN8A‐related disorders, treatment options, and outcomes

R. Møller, E. Gardella, 2019, Epilepsia.

The spectrum of intermediate SCN8A‐related epilepsy

M. Hammer, P. Striano, A. Coppola, 2019, Epilepsia.

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU

J. Stoler, C. Garel, C. Depienne, 2017, Human Genetics.

9q subtelomeric deletion syndrome with diaphragmatic hernia

N. Tommerup, R. Møller, H. Hjalgrim, 2009, American journal of medical genetics. Part A.

Characterization of the GABRB2‐Associated Neurodevelopmental Disorders

L. Vissers, H. Lerche, R. Møller, 2020, Annals of neurology.

R. Møller, C. Wallgren‐Pettersson, M. Balasubramanian, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

PIGN encephalopathy: Characterizing the epileptology

I. Scheffer, H. Mefford, A. Reymond, 2022, Epilepsia.

[Mowat-Wilson syndrome: a report of three Danish cases].

R. Møller, C. Søndergaard, T. Thelle, 2011, Ugeskrift for laeger.

Spectrum of GABAA receptor variants in epilepsy

P. May, C. Reid, H. Lerche, 2019, Current opinion in neurology.

Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study.

Michael R. Johnson, Josemir W Sander, R. Krause, 2020, Pharmacogenomics.

Differential excitatory vs inhibitory SCN expression at single cell level regulates brain sodium channel function in neurodevelopmental disorders.

Sean K. Simmons, Cynthia C. Hession, Stephan J Sanders, 2019, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.

D. Rader, G. Rubboli, R. Møller, 2020, Brain : a journal of neurology.

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

H. Lerche, J. Benda, R. Møller, 2019, Brain : a journal of neurology.

Genome‐wide linkage meta‐analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

I. Scheffer, C. Elger, R. Kaneva, 2012, Epilepsia.

Electroclinical features of MEF2C haploinsufficiency-related epilepsy: A multicenter European study

P. Striano, R. Møller, E. Gardella, 2021, Seizure.

Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype

Melissa J. Davis, M. Bodén, S. Hediyeh-zadeh, 2021, Nature Communications.

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

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

Treatment Responsiveness in KCNT1-Related Epilepsy

Tracy S. Gertler, G. Rubboli, R. Møller, 2019, Neurotherapeutics.

L-Serine Treatment is Associated with Improvements in Behavior, EEG, and Seizure Frequency in Individuals with GRIN-Related Disorders Due to Null Variants

H. Muhle, R. Møller, D. Beysen, 2022, Neurotherapeutics.

Treatment Responsiveness in KCNT1-Related Epilepsy

Tracy S. Gertler, G. Rubboli, R. Møller, 2019, Neurotherapeutics.

F. Bartolomei, P. Striano, A. Coppola, 2021, Brain : a journal of neurology.

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

G. Carvill, I. Scheffer, H. Mefford, 2022, Neurology.

Sex-specific disease modifiers in juvenile myoclonic epilepsy

P. Striano, M. Richardson, K. Hamandi, 2022, Scientific Reports.

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

I. Scheffer, E. Haan, J. Gécz, 2015, Human molecular genetics.

The incidence of SCN1A‐related Dravet syndrome in Denmark is 1:22,000: A population‐based study from 2004 to 2009

Allan Bayat, R. Møller, A. Bayat, 2015, Epilepsia.

Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a “pure” model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study

C. Tassinari, G. Rubboli, R. Møller, 2019, Epilepsy & Behavior.

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

G. Rubboli, R. Møller, T. Bast, 2021, International journal of molecular sciences.

RBFOX1 and RBFOX3 Mutations in Rolandic Epilepsy

Holger Lerche, Peter Nürnberg, Hiltrud Muhle, 2013, PloS one.

The impact of severe pediatric epilepsy on experienced stress and psychopathology in parents

R. Møller, M. Nikanorova, A. Elklit, 2020, Epilepsy & Behavior.

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures

G. Rubboli, Manuela Pendziwiat, R. Møller, 2021, Frontiers in Genetics.

First report of the neuropathological findings in a patient with leukodystrophy and compound heterozygous variants in the PIGT gene

R. Møller, A. Bayat, K. B. Larsen, 2019, Neuropathology and applied neurobiology.

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

A. Pagnamenta, D. Horn, J. Hurst, 2019, Genetics in Medicine.

Incidence of Aicardi-Goutières syndrome and KCNT1-related epilepsy in Denmark

R. Møller, M. Duno, V. Kupelian, 2022, Molecular genetics and metabolism reports.

PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.

I. Scheffer, J. Gécz, R. Møller, 2020, Advances in experimental medicine and biology.

Lessons learned from 40 novel PIGA patients and a review of the literature

C. Depienne, A. Afenjar, A. Jezela-Stanek, 2020, Epilepsia.

DNA methylation signature classification of rare disorders using publicly available methylation data

Z. Tümer, R. Møller, M. Tartaglia, 2023, Clinical genetics.

Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers

R. Møller, K. Johannesen, 2015, Neurotherapeutics.

Biallelic inherited SCN8A variants, a rare cause of SCN8A‐related developmental and epileptic encephalopathy

Jacy L. Wagnon, G. Rubboli, R. Møller, 2019, Epilepsia.

Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

H. Mefford, W. Chung, R. Møller, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

J. Lupski, P. May, S. Szelinger, 2019, Nature Communications.

Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications

P. Striano, M. Richardson, M. Reuber, 2023, Brain communications.

Adult phenotype of KCNQ2 encephalopathy

P. Striano, L. Vercueil, R. Møller, 2021, Journal of Medical Genetics.

Expansion of the phenotypic and molecular spectrum of CWF19L1‐related disorder

R. Møller, A. Bayat, E. Gardella, 2022, Clinical genetics.

D-galactose Supplementation for the Treatment of Mild Malformation of Cortical Development with Oligodendroglial Hyperplasia in Epilepsy (MOGHE): A Pilot Trial of Precision Medicine After Epilepsy Surgery

I. Blumcke, R. Toledano, R. Møller, 2023, Neurotherapeutics.

Expanding the clinical and EEG spectrum of CNKSR2-related encephalopathy with status epilepticus during slow sleep (ESES)

J. Serratosa, C. Tassinari, G. Rubboli, 2020, Clinical Neurophysiology.

Genome-wide Association Analysis of Genetic Generalized Epilepsies Implicates Susceptibility Loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 Epicure Consortium

C. Gieger, I. Scheffer, T. Wienker, 2022 .

Clinical and molecular delineation of PUS3‐associated neurodevelopmental disorders

Z. Tümer, A. Afenjar, R. Møller, 2021, Clinical genetics.

"Expansion of the CCDC22 associated Ritscher-Schinzel/3C syndrome and review of the literature: Should the minimal diagnostic criteria be revised?"

R. Møller, A. Bayat, C. Fenger, 2021, European journal of medical genetics.

PRICKLE2 revisited—further evidence implicating PRICKLE2 in neurodevelopmental disorders

A. Bassuk, G. Rubboli, R. Møller, 2021, European Journal of Human Genetics.

Atypical Vitamin B6 Deficiency

U. Stephani, H. Muhle, R. Møller, 2014, Journal of child neurology.

Reader response: SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

R. Møller, P. Wolf, G. Kluger, 2020, Neurology.

Targeted next generation sequencing as a diagnostic tool in 644 childhood epilepsy patients and transmission of variants from mosaic parents

P. Striano, R. Møller, A. Bayat, 2017 .

Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations.

H. Høgenhaven, G. Rubboli, R. Møller, 2017, Epileptic disorders : international epilepsy journal with videotape.

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

N. Tommerup, R. Møller, H. Hjalgrim, 2014, Annals of clinical and translational neurology.

The role of SLC2A1 in early onset and childhood absence epilepsies

U. Stephani, N. Tommerup, H. Muhle, 2011, Epilepsy Research.

The impact of low-risk genetic variants in self-limited epilepsy with centrotemporal spikes aka Rolandic epilepsy

R. Møller, T. Hansen, 2020, EBioMedicine.

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

I. Scheffer, J. Gécz, C. Depienne, 2020, Translational Psychiatry.

The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood

P. Broser, Birgit Stark, H. Muhle, 2020, Biomedicines.

Gain-of-function variants in GABRD reveal a novel pathway for neurodevelopmental disorders and epilepsy.

E. Eichler, H. Lerche, R. Møller, 2021, Brain : a journal of neurology.

B. D. de Vries, S. Mehta, E. van Binsbergen, 2023, Clinical genetics.

CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online

Ryan L. Collins, Daniel J. Blankenberg, P. May, 2022, medRxiv.

Intrafamilial variability in SLC6A1-related neurodevelopmental disorders

G. Rubboli, R. Møller, M. V. van Slegtenhorst, 2023, Frontiers in neuroscience.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

N. Brown, S. Köhler, D. Horn, 2017, Genome Medicine.

GABAA receptors in epilepsy: Elucidating phenotypic divergence through functional analysis of genetic variants.

N. Absalom, R. Møller, V. Liao, 2023, Journal of neurochemistry.

Encephalopathy related to status epilepticus during sleep due to a de novo KCNA1 variant in the Kv-specific Pro-Val-Pro motif: phenotypic description and remarkable electroclinical response to ACTH.

G. Rubboli, R. Møller, A. Pini, 2020, Epileptic disorders : international epilepsy journal with videotape.

GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?

R. Møller, A. Bayat, A. Gil-Nagel, 2023, Clinical genetics.

Correction to: The landscape of epilepsy-related GATOR1 variants

Anne de Saint Martin, A. Biraben, F. Bartolomei, 2018, Genetics in Medicine.

De novo variants in neurodevelopmental disorders with epilepsy

M. Daly, P. May, Sitao Wu, 2018, Nature Genetics.

Predicting functional effects of missense variants in voltage-gated sodium and calcium channels

Jen Q. Pan, M. Daly, P. May, 2019, Science Translational Medicine.

PRRT2 benign familial infantile seizures (BFIS) with atypical evolution to encephalopathy related to status epilepticus during sleep (ESES)

A. Silahtaroglu, G. Cantalupo, N. Tommerup, 2023, Neurological Sciences.

Deletion of 7q34–q36.2 in two siblings with mental retardation, language delay, primary amenorrhea, and dysmorphic features

Z. Tümer, N. Tommerup, R. Møller, 2010, American journal of medical genetics. Part A.

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

P. May, P. Striano, A. Wuster, 2023, Brain : a journal of neurology.

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics

A. Pagnamenta, D. Horn, J. Hurst, 2019, Genetics in Medicine.

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

K. Devriendt, G. Scarano, A. Toutain, 2016, Genetics in Medicine.

The Angelman Syndrome Online Registry - A multilingual approach to support global research.

R. Møller, J. Lemke, S. Weckhuysen, 2021, European journal of medical genetics.