R. S. Møller

发表

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

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

Structural mapping of GABRB3 variants reveals genotype-phenotype correlation

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

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

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

The phenotypic spectrum of SCN8A encephalopathy

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

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

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

Structural mapping of GABRB3 variants reveals genotype–phenotype correlations

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

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.

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

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

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.

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

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

Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome

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

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

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.

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

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

Clinical spectrum of STX1B-related epileptic disorders

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

De novo variants in neurodevelopmental disorders with epilepsy

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

University of Southern Denmark Clinical spectrum of STX 1 B-related epileptic disorders

P. May, S. Knight, D. Lowenstein, 2022 .

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.

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.

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

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

Neurologic phenotypes associated with COL4A1/2 mutations

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

PURA-Related Developmental and Epileptic Encephalopathy

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

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

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

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

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

Answer to: Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy (Amadori E et al., 2022). EJMG-D-22-00384.

P. Striano, G. Rubboli, A. Russo, 2022, European journal of medical genetics.

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Ethan M. Goldberg, A. Munnich, C. Davidson, 2018, Genetics in Medicine.

Using common genetic variants to find drugs for common epilepsies

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

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

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

Current practice in diagnostic genetic testing of the epilepsies

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