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Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsiesGenome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients.Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patientsRecurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsiesStructural genomic variation in childhood epilepsies with complex phenotypesCharacterization 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.Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsyA recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.The phenotypic spectrum of SCN8A encephalopathy.De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathyCHD2 variants are a risk factor for photosensitivity in epilepsyMECP2 Duplication Syndrome: Evidence of Enhanced Oxidative Stress. A Comparison with Rett Syndrome.Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic SeizuresTruncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephaly.Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsyGenetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.High frequency of rare copy number variants affecting functionally related genes in patients with structural brain malformations.The contribution of next generation sequencing to epilepsy genetics.Myoclonus epilepsy and ataxia due to KCNC1 mutation: Analysis of 20 cases and K+ channel properties.Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs.Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome.Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers.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 acidsAberrant expression of miR-218 and miR-204 in human mesial temporal lobe epilepsy and hippocampal sclerosis-convergence on axonal guidance.The role of SLC2A1 in early onset and childhood absence epilepsies.Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.Defining the phenotypic spectrum of SLC6A1 mutations.
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researcher ORCID ID = 0000-0002-9664-1448
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wetenschapper
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Rikke S Møller
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Rikke S Møller
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Rikke S Møller
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