Lista de obras - Rikke S Møller - Dominio Público Uruguay

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

artículo científico publicado en 2009

9q subtelomeric deletion syndrome with diaphragmatic hernia

artículo científico publicado en 2009

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

artículo científico publicado en 2019

A balanced translocation disruptsSYNGAP1in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

artículo científico publicado en 2011

A cryptic unbalanced translocation resulting in del 13q and dup 15q

artículo científico publicado en 2008

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

scientific article published on 20 March 2019

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

artículo científico publicado en 2014

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

artículo científico publicado en 2020

Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-convergence on axonal guidance

artículo científico publicado en 2014

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

artículo científico publicado en 2017

Analysis of shared heritability in common disorders of the brain

artículo científico publicado en 2018

Assessing the landscape of STXBP1-related disorders in 534 individuals

artículo científico publicado en 2022

Atypical vitamin B6 deficiency: a rare cause of unexplained neonatal and infantile epilepsies

artículo científico publicado en 2013

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

artículo científico publicado en 2008

Basal ganglia dysmorphism in patients with Aicardi syndrome

artículo científico publicado en 2020

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

artículo científico publicado en 2015

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

scientific article published on 17 October 2019

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

artículo científico publicado en 2020

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

artículo científico publicado en 2015

CHD2 variants are a risk factor for photosensitivity in epilepsy

artículo científico publicado en 2015

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.

artículo científico publicado en 2009

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

artículo científico publicado en 2018

Characterization of the GABRB2 associated neurodevelopmental disorders

artículo científico publicado en 2020

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

scientific article published on 22 December 2018

Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.

artículo científico publicado en 2015

Clinical and genetic spectrum of SCN2A-associated episodic ataxia

scientific article published on 07 March 2019

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

artículo científico publicado en 2017

Clinical spectrum of STX1B-related epileptic disorders.

artículo científico publicado en 2019

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

artículo científico publicado en 2017

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

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

artículo científico publicado en 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

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

artículo científico publicado en 2015

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

artículo científico publicado en 2013

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

artículo científico publicado en 2016

De novo variants in neurodevelopmental disorders with epilepsy

artículo científico publicado en 2018

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

artículo científico publicado en 2019

Defining the phenotypic spectrum of SLC6A1 mutations

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2017

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

artículo científico publicado en 2016

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

artículo científico publicado en 2019

Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy ⬇️

artículo científico publicado el 1 de septiembre de 2010

Early mortality in SCN8A-related epilepsies.

artículo científico publicado en 2018

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

artículo científico publicado en 2021

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

artículo científico publicado en 2017

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.

artículo científico publicado en 2016

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

artículo científico publicado en 2013

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

scientific article published on 13 February 2020

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

artículo científico publicado en 2013

Filadelfia, Danish Epilepsy Center, Dianalund, Denmark

artículo científico publicado en 2017

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

scientific article published on 10 June 2019

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

artículo científico publicado en 2002

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

artículo científico publicado en 2019

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

artículo científico publicado en 2014

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

artículo científico publicado en 2017

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

artículo científico publicado en 2022

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

scientific article published on 20 August 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Genetic heterogeneity in infantile spasms

scientific article published on 29 July 2019

Genetic studies in congenital anterior midline cervical cleft

artículo científico publicado en 2012

Genetic testing in adult epilepsy patients: A call to action for clinicians

artículo científico publicado en 2020

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

artículo científico publicado en 2012

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

article

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

artículo científico publicado en 2016

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

artículo científico

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

Incorporating epilepsy genetics into clinical practice: a 360°evaluation.

artículo científico publicado en 2018

Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe.

artículo científico publicado en 2007

Investigation of 4q-deletion in two unrelated patients using array CGH.

artículo científico publicado en 2008

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

scientific article published on 26 May 2020

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2018

Mowat-Wilson syndrome: an underdiagnosed syndrome?

artículo científico publicado en 2008

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

artículo científico publicado en 2017

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

artículo científico publicado en 2013

Mutations in KCNT1 cause a spectrum of focal epilepsies.

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2017

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

artículo científico publicado en 2020

Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene

artículo científico publicado en 2020

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

artículo científico publicado en 2017

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

artículo científico publicado en 2022

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

artículo científico publicado en 2016

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease

artículo científico publicado en 2018

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

scientific article published on 01 February 2019

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

artículo científico publicado en 2019

PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum

artículo científico publicado en 2020

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

artículo científico publicado en 2019

Parental mosaicism in epilepsies due to alleged de novo variants

scientific article published on 11 May 2019

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

artículo científico publicado en 2018

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

artículo científico publicado en 2019

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

artículo científico publicado en 2020

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

artículo científico publicado en 2016

Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers.

artículo científico publicado en 2015

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

scientific article published on 01 August 2020

Progress in Understanding and Treating SCN2A-Mediated Disorders.

artículo científico publicado en 2018

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

article

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

artículo científico publicado en 2013

Recent advances in treatment of epilepsy-related sodium channelopathies

artículo científico publicado en 2019

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

artículo científico publicado en 2009

Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

artículo científico publicado en 2014

Reply

SLC35A2-related congenital disorder of glycosylation: Defining the phenotype

artículo científico publicado en 2018

Sequence analysis of 17 NRXN1 deletions.

artículo científico publicado en 2013

Structural genomic variation in childhood epilepsies with complex phenotypes

artículo científico publicado en 2013

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

artículo científico publicado en 2013

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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2020

The contribution of next generation sequencing to epilepsy genetics.

artículo científico publicado en 2015

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant.

artículo científico publicado en 2018

The first step towards personalized risk prediction for common epilepsies

artículo científico publicado en 2019

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

artículo científico publicado en 2015

The landscape of epilepsy-related GATOR1 variants

artículo científico publicado en 2018

The phenotype of SCN8A developmental and epileptic encephalopathy

artículo científico publicado en 2018

The phenotypic spectrum of SCN8A encephalopathy

artículo científico publicado en 2015

The role of SLC2A1 in early onset and childhood absence epilepsies.

artículo científico publicado en 2013

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

artículo científico publicado en 2015

The spectrum of intermediate SCN8A-related epilepsy

scientific article published on 10 April 2019

Treatment Responsiveness in KCNT1-Related Epilepsy

artículo científico publicado en 2019

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

artículo científico publicado en 2008

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

scientific article published on 01 June 2019

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

scientific article published on 19 May 2020

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

artículo científico publicado en 2013

[Submicroscopic chromosomal changes predispose to generalised epilepsy].

artículo científico publicado en 2011

Lista de obras de Rikke S Møller

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

9q subtelomeric deletion syndrome with diaphragmatic hernia

A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

A balanced translocation disruptsSYNGAP1in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

A cryptic unbalanced translocation resulting in del 13q and dup 15q

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

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

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

Aberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-convergence on axonal guidance

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

Analysis of shared heritability in common disorders of the brain

Assessing the landscape of STXBP1-related disorders in 534 individuals

Atypical vitamin B6 deficiency: a rare cause of unexplained neonatal and infantile epilepsies

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

Basal ganglia dysmorphism in patients with Aicardi syndrome

Benign infantile seizures and paroxysmal dyskinesia caused by an SCN8A mutation

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

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

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

CHD2 variants are a risk factor for photosensitivity in epilepsy

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.

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

Characterization of the GABRB2 associated neurodevelopmental disorders

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

Clinical Phenotype of De Novo GNAO1 Mutation: Case Report and Review of Literature.

Clinical and genetic spectrum of SCN2A-associated episodic ataxia

Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.

Clinical spectrum of STX1B-related epileptic disorders.

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

Correction to: The landscape of epilepsy-related GATOR1 variants

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

Correction: The landscape of epilepsy-related GATOR1 variants

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

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

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

De novo variants in neurodevelopmental disorders with epilepsy

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

Defining the phenotypic spectrum of SLC6A1 mutations

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

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

Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.

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

Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy ⬇️

Early mortality in SCN8A-related epilepsies.

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

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

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

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

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

Filadelfia, Danish Epilepsy Center, Dianalund, Denmark

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

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

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

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

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

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

Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies

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

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

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

Genetic heterogeneity in infantile spasms

Genetic studies in congenital anterior midline cervical cleft

Genetic testing in adult epilepsy patients: A call to action for clinicians

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

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

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

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

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

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

Incorporating epilepsy genetics into clinical practice: a 360°evaluation.

Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe.

Investigation of 4q-deletion in two unrelated patients using array CGH.

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

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

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

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

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

Mowat-Wilson syndrome: an underdiagnosed syndrome?