Rikke S. Møller
University of Southern Denmark
EpilepsyGeneticsIntellectual disabilityMedicineBiology
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Publications 173
#1Dennis LalH-Index: 15
#2Patrick May (University of Luxembourg)
Last. Sarah Weckhuysen (University of Antwerp)H-Index: 28
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BACKGROUND: Classifying pathogenicity of missense variants represents a major challenge in clinical practice during the diagnoses of rare and genetic heterogeneous neurodevelopmental disorders (NDDs). While orthologous gene conservation is commonly employed in variant annotation, approximately 80% of known disease-associated genes belong to gene families. The use of gene family information for disease gene discovery and variant interpretation has not yet been investigated on a genome-wide scale....
#1Javier A Lopez-Rivera (Cleveland Clinic Lerner College of Medicine)
#2Eduardo Pérez-Palma (University of Cologne)H-Index: 4
Last. Dennis LalH-Index: 15
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A large fraction of rare and severe neurodevelopmental disorders are caused by sporadic de novo variants. Epidemiological disease estimates are not available for the vast majority of these de novo monogenic neurodevelopmental disorders because of phenotypic heterogeneity and the absence of large-scale genomic screens. Yet, knowledge of disease incidence is important for clinicians and researchers to guide health policy planning. Here, we adjusted a statistical method based on genetic data to pre...
#1Stefan Wolking (University of Tübingen)H-Index: 10
#2Claudia Moreau (Université du Québec)
Last. Rikke S. Møller (University of Southern Denmark)H-Index: 36
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OBJECTIVE: Drug resistance is a major concern in the treatment of individuals with epilepsy. No genetic markers for resistance to individual antiseizure medication (ASM) have yet been identified. We aimed to identify the role of rare genetic variants in drug resistance for three common ASMs: levetiracetam (LEV), lamotrigine (LTG), and valproic acid (VPA). METHODS: A cohort of 1622 individuals of European descent with epilepsy was deeply phenotyped and underwent whole exome sequencing (WES), comp...
#1Peter WolfH-Index: 24
Last. Gerhard KlugerH-Index: 1
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#1Andreas Brunklaus (Glas.: University of Glasgow)H-Index: 10
#2Juanjiangmeng Du (University of Cologne)H-Index: 2
Last. Andrew Allen (MIT: Massachusetts Institute of Technology)H-Index: 5
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#2Cyril Mignot (University of Paris)H-Index: 24
Last. Gaetan LescaH-Index: 26
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Abstract Objective to investigate the clinical and EEG features of Encephalopathy with Status Epilepticus during slow Sleep (ESES) related to CNKSR2 pathogenic variants. Methods detailed clinical history, repeated wakefulness/overnight sleep EEGs, brain MRI were collected in five patients, including one female, with CNKSR2-related ESES. Results neurodevelopment in infancy was normal in two patients, delayed in three. Epilepsy onset (age range: 2-6 years) was associated with appearance or aggrava...
#1Juanjiangmeng Du (University of Cologne)H-Index: 2
#2Sean Simmons (Broad Institute)
Last. Dennis LalH-Index: 15
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Abstract The four voltage-gated sodium channels SCN1/2/3/8A have been associated with heterogeneous types of developmental disorders, each presenting with disease specific temporal and cell type specific gene expression. Using single-cell RNA sequencing transcriptomic data from humans and mice, we observe that SCN1A is predominantly expressed in inhibitory neurons. In contrast, SCN2/3/8A are profoundly expressed in excitatory neurons with SCN2/3A starting prenatally, followed by SCN1/8A neonatal...
#1Elisa Musto (CUA: The Catholic University of America)H-Index: 4
#2Elena Gardella (University of Southern Denmark)H-Index: 21
Last. Rikke S. Møller (University of Southern Denmark)H-Index: 36
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Abstract Voltage-gated sodium channels (VGSCs) play a crucial role in generation of action potentials. Pathogenic variants in the five human brain expressed VGSC genes, SCN1A, SCN2A, SCN3A, SCN8A and SCN1B have been associated with a spectrum of epilepsy phenotypes and neurodevelopmental disorders. In the last decade, next generation sequencing techniques have revolutionized the way we diagnose these channelopathies, which is paving the way towards precision medicine. Knowing the functional effe...
1 CitationsSource
#1Elena Gardella (University of Southern Denmark)H-Index: 21
#2Rikke S. Møller (University of Southern Denmark)H-Index: 36
1 CitationsSource
#2Diana Mitter (University of Southern Denmark)
Last. Rikke S. MøllerH-Index: 36
view all 38 authors...
Objective The study is aimed at widening the clinical and genetic spectrum and at assessing genotype-phenotype associations in QARS encephalopathy. Methods Through diagnostic gene panel screening in an epilepsy cohort, and recruiting through GeneMatcher and our international network, we collected 10 patients with biallelic QARS variants. In addition, we collected data on 12 patients described in the literature to further delineate the associated phenotype in a total cohort of 22 patients. Comput...