Esther Meyer
A5109968610- Genetics and Neurodevelopmental Disorders
- Genetic Syndromes and Imprinting
- Genomics and Rare Diseases
- Prenatal Screening and Diagnostics
- Epigenetics and DNA Methylation
- Neurological disorders and treatments
- Radiation Dose and Imaging
- Advanced X-ray and CT Imaging
- Neurological diseases and metabolism
- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Medical Imaging Techniques and Applications
- Glycogen Storage Diseases and Myoclonus
- RNA regulation and disease
- Genomic variations and chromosomal abnormalities
- Cellular transport and secretion
- Neuroscience and Neuropharmacology Research
- Porphyrin Metabolism and Disorders
- Ion channel regulation and function
- Neurogenetic and Muscular Disorders Research
- Autoimmune Neurological Disorders and Treatments
- Neurological and metabolic disorders
- Neonatal and fetal brain pathology
- Nuclear Receptors and Signaling
- Parkinson's Disease Mechanisms and Treatments
University of Copenhagen
2025
University College London
2013-2022
Great Ormond Street Hospital
2012-2022
Florey Institute of Neuroscience and Mental Health
2017
Hôpital Necker-Enfants Malades
2017
Sorbonne Université
2017
Great Ormond Street Hospital for Children NHS Foundation Trust
2016
St George’s University Hospitals NHS Foundation Trust
2016
Children's Hospital at Westmead
2016
University of Rochester Medical Center
2016
Purpose: While modern clinical CT scanners under normal circumstances produce high quality images, severe artifacts degrade the image and diagnostic value if metal prostheses or other objects are present in field of measurement. Standard methods for artifact reduction (MAR) replace those parts projection data that affected by (the so‐called trace shadow) interpolation. However, while sinogram interpolation efficiently remove artifacts, new often introduced, as cannot completely recover...
Abstract Although manganese is an essential trace metal, little known about its transport and homeostatic regulation. Here we have identified a cohort of patients with novel autosomal recessive transporter defect caused by mutations in SLC39A14. Excessive accumulation these results rapidly progressive childhood-onset parkinsonism–dystonia distinctive brain magnetic resonance imaging appearances neurodegenerative features on post-mortem examination. We show that SLC39A14 impair vitro lead to...
In severe early-onset epilepsy, precise clinical and molecular genetic diagnosis is complex, as many metabolic electro-physiological processes have been implicated in disease causation. The phenotypes share features such complex seizure types developmental delay. Molecular has historically confined to sequential testing of candidate genes known be associated with specific sub-phenotypes, but the diagnostic yield this approach can low. We conducted whole-genome sequencing (WGS) on six...
The problem of metal artifact reduction (MAR) is almost as old the clinical use computed tomography itself. When implants are present in field measurement, severe artifacts degrade image quality and diagnostic value CT images. Up to now, no generally accepted solution this issue has been found. In work, a method based on new MAR concept presented: frequency split (FSMAR). It ensures efficient at high with enhanced preservation details close implants.FSMAR combines raw data inpainting-based...
Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding collection of single gene collectively known as neurodegeneration brain accumulation. These can largely be distinguished from one another by their associated clinical and neuroimaging features. The aim this study was to define phenotype that is mutations WDR45, a new causative for accumulation located on X chromosome. subjects consisted WDR45 mutation-positive individuals identified after screening large...
<h3>Background</h3> We sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy disorders of severe developmental delay. <h3>Methods</h3> In 400 patients with these no known underlying aetiology major structural brain anomaly, we analysed 46 using a combination targeted sequencing on an Illumina MiSeq platform targeted, exon-level microarray copy number analysis. <h3>Results</h3> identified causative mutations 71/400 (18%). The...
Beckwith-Wiedemann syndrome (BWS) is a fetal overgrowth and human imprinting disorder resulting from the deregulation of number genes, including IGF2 CDKN1C, in imprinted gene cluster on chromosome 11p15.5. Most cases are sporadic result epimutations at either two 11p15.5 centres (IC1 IC2). However, rare familial may be associated with germline deletions causing abnormal cis. We report family BWS an IC2 epimutation which affected siblings had inherited different parental alleles excluding...
Genetic variants of the SLC6A3 gene that encodes human dopamine transporter (DAT) have been linked to a variety neuropsychiatric disorders, particularly attention deficit hyperactivity disorder. In addition, homozygous Slc6a3 knockout mouse displays phenotype. Here, we analyzed 2 unrelated consanguineous families with infantile parkinsonism-dystonia (IPD) syndrome and identified missense mutations (p.L368Q p.P395L) in both families. Functional studies demonstrated were loss-of-function...
dopamine transporter deficiency syndrome is the first identified parkinsonian disorder caused by genetic alterations of transporter. We describe a cohort children with mutations in gene encoding (SLC6A3) aim to improve clinical and molecular characterisation, reduce diagnostic delay misdiagnosis, provide insights into pathophysiological mechanisms.11 biochemical profile suggestive were enrolled from seven paediatric neurology centres UK, Germany, USA February, 2009, studied until June, 2010....
The potassium-chloride co-transporter KCC2, encoded by SLC12A5, plays a fundamental role in fast synaptic inhibition maintaining hyperpolarizing gradient for chloride ions. KCC2 dysfunction has been implicated human epilepsy, but to date, no monogenic KCC2-related epilepsy disorders have described. Here we show recessive loss-of-function SLC12A5 mutations patients with severe infantile-onset pharmacoresistant syndrome, of infancy migrating focal seizures (EIMFS). Decreased surface...
Migrating partial seizures of infancy, also known as epilepsy infancy with migrating focal seizures, is a rare early infantile epileptic encephalopathy poor prognosis, presenting in the first year life. A national surveillance study was undertaken conjunction British Paediatric Neurology Surveillance Unit to further define clinical, pathological and molecular genetic features this disorder. Fourteen children were reported during 2 period (estimated prevalence 0.11 per 100,000 children). The...
Due to x-ray beam polychromaticity and scattered radiation, attenuation measurements tend be underestimated. Cupping hardening artifacts become apparent in the reconstructed CT images. If only one material such as water, for example, is present, these can reduced by precorrecting rawdata. Higher order artifacts, they result when a mixture of materials water bone, or bone iodine require an iterative correction where image segmented into different those are forward projected obtain new...
Dopamine transporter deficiency syndrome due to SLC6A3 mutations is the first inherited dopamine 'transportopathy' be described, with a classical presentation of early infantile-onset progressive parkinsonism dystonia. In this study we have identified new cohort patients syndrome, including, most significantly, atypical later in childhood milder disease course. We report detailed clinical features, molecular genetic findings and vitro functional investigations undertaken for adult paediatric...
To characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset
Summary Malignant migrating partial seizures in infancy (MMPEI) is an early onset epileptic encephalopathy with few known etiologies. We sought to identify a novel cause of MMPEI child whose healthy parents were consanguineous. used array comparative genomic hybridization (CGH) copy number variants genome‐wide and long‐range polymerase chain reaction further delineate the breakpoints deletion found by CGH. The proband had inherited homozygous chromosome 20p13, disrupting promoter region...
Chorea is a hyperkinetic movement disorder resulting from dysfunction of striatal medium spiny neurons (MSNs), which form the main output projections basal ganglia. Here, we used whole-exome sequencing to unravel underlying genetic cause in three unrelated individuals with very similar and unique clinical presentation childhood-onset chorea characteristic brain MRI showing symmetrical bilateral lesions. All were identified carry de novo heterozygous mutation PDE10A (c.898T>C [p.Phe300Leu]...
Background Adenylyl cyclase 5 (ADCY5) mutations is associated with heterogenous syndromes: familial dyskinesia and facial myokymia; paroxysmal chorea dystonia; autosomal-dominant benign hereditary chorea. We provide detailed clinical data on 7 patients from six new kindreds in the ADCY5 gene, order to expand define phenotypic spectrum of mutations. Methods In patients, followed over a period 9 32 years, was sequenced by Sanger sequencing. The other 2 unrelated participated studies for...
Abstract Heterozygous mutations in KMT2B are associated with an early-onset, progressive and often complex dystonia (DYT28). Key characteristics of typical disease include focal motor features at presentation, evolving through a caudocranial pattern into generalized dystonia, prominent oromandibular, laryngeal cervical involvement. Although KMT2B-related is emerging as one the most common causes early-onset genetic much remains to be understood about full spectrum disease. We describe cohort...
Silver–Russell syndrome (SRS) is a heterogeneous disorder characterised by severe intrauterine and postnatal growth retardation, limb body asymmetry, typical facial appearance less common dysmorphisms. Recently, epimutations maternal duplications affecting the short arm of chromosome 11 have been shown to crucial role in aetiology disease. Disturbances same genomic region cause overgrowth Beckwith–Wiedemann (BWS). In BWS, mutations telomeric as well centromeric imprinting centres (ICR1 ICR2)...
Familial biparental hydatidiform mole (FBHM) is a maternal-effect autosomal recessive disorder in which recurrent pregnancy failure with molar degeneration occurs. The phenotype mimics due to androgenesis, despite the normal genetic makeup of conceptus. FBHM appears result from establish correct maternal epigenetic identity at imprinted loci during oogenesis. Several women affected have previously been shown biallelic mutations NLRP7 gene (NALP7). Here, we present results and mutational...