Catherine Sarret
A5067963113- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Genetic Neurodegenerative Diseases
- Metabolism and Genetic Disorders
- RNA Research and Splicing
- Mitochondrial Function and Pathology
- Neurological disorders and treatments
- Neurogenetic and Muscular Disorders Research
- RNA regulation and disease
- Genomic variations and chromosomal abnormalities
- Pancreatic function and diabetes
- Tuberous Sclerosis Complex Research
- Fetal and Pediatric Neurological Disorders
- Traumatic Brain Injury and Neurovascular Disturbances
- Thyroid Disorders and Treatments
- Traumatic Brain Injury Research
- Advanced Neuroimaging Techniques and Applications
- Neurological diseases and metabolism
- Epilepsy research and treatment
- Hereditary Neurological Disorders
- Botulinum Toxin and Related Neurological Disorders
- Genetic and rare skin diseases.
- Parkinson's Disease Mechanisms and Treatments
- Congenital heart defects research
Centre Hospitalier Universitaire de Clermont-Ferrand
2016-2025
Institut Pascal
2015-2024
Université Clermont Auvergne
2011-2024
Sigma Clermont
2018-2024
Centre National de la Recherche Scientifique
2009-2024
Sorbonne Université
2019-2023
Inserm
2008-2023
Commissariat à l'Énergie Atomique et aux Énergies Alternatives
2023
Université de Montpellier
2023
CEA Paris-Saclay
2023
Background: An accurate estimation of the risk life-threatening (LT) ventricular tachyarrhythmia (VTA) in patients with LMNA mutations is crucial to select candidates for implantable cardioverter-defibrillator implantation. Methods: We included 839 adult mutations, including 660 from a French nationwide registry development sample, and 179 other countries, referred 5 tertiary centers cardiomyopathies, validation sample. LTVTA was defined as (1) sudden cardiac death or (2) cardioverter...
Abstract Variants in KCNT1, encoding a sodium-gated potassium channel (subfamily T member 1), have been associated with spectrum of epilepsies and neurodevelopmental disorders. These range from familial autosomal dominant or sporadic sleep-related hypermotor epilepsy to infancy migrating focal seizures (EIMFS) include developmental epileptic encephalopathies. This study aims provide comprehensive overview the phenotypic genotypic KCNT1 mutation-related disorders 248 individuals, including 66...
Abstract Pelizaeus–Merzbacher Disease is an X‐linked hypomyelinatiing leukodystrophy. We report mutations in the thyroid hormone transporter gene MCT8 11% of 53 families affected by hypomyelinating leukodystrophies unknown aetiology. The 12 mutated patients express initially a Pelizaeus–Merzbacher‐Like disease phenotype with latter unusual improvement magnetic resonance imaging white matter signal despite absence clinical progression. This observation underlines interest determining both...
The aim of the study was to redefine phenotype Allan–Herndon–Dudley syndrome ( AHDS ), which is caused by mutations in SLC 16A2 gene that encodes brain transporter thyroid hormones. Clinical phenotypes, imaging, hormone profiles, and genetic data were compared existing literature. Twenty‐four males aged 11 months 29 years had a mutation , including 12 novel five previously described mutations. Sixteen patients presented with profound developmental delay, three severe intellectual disability...
Background Balanced chromosomal rearrangements associated with abnormal phenotype are rare events, but may be challenging for genetic counselling, since molecular characterisation of breakpoints is not performed routinely. We used next-generation sequencing to characterise balanced at the level in patients intellectual disability and/or congenital anomalies. Methods Breakpoints were characterised by a paired-end low depth whole genome (WGS) strategy and validated Sanger sequencing....
To genotypically and phenotypically characterize a large pediatric myotonic dystrophy type 1 (DM1) cohort to provide solid frame of data for future evidence-based health management.Among the 2,697 patients with genetically confirmed DM1 included in French DM-Scope registry, children were enrolled between January 2010 February 2016 from 24 centers. Comprehensive cross-sectional analysis most relevant qualitative quantitative variables was performed.We studied 314 (52% females, 55% congenital,...
Abstract Background ADCY5 ‐related dyskinesia is characterized by early‐onset movement disorders. There currently no validated treatment, but anecdotal clinical reports and biological hypotheses suggest efficacy of caffeine. Objective The aim to obtain further insight into the safety caffeine in patients with dyskinesia. Methods A retrospective study was conducted worldwide 30 a proven mutation who had tried or were taking for Disease characteristics treatment responses assessed through...
The efficacy of deep brain stimulation in disorders consciousness remains inconclusive. We investigated bilateral 30-Hz low-frequency designed to overdrive neuronal activity by dual pallido-thalamic targeting, using the Coma Recovery Scale Revised (CRS-R) assess conscious behavior.
The Xq28 duplication involving the MECP2 gene (MECP2 duplication) has been mainly described in male patients with severe developmental delay (DD) associated spasticity, stereotypic movements and recurrent infections. Nevertheless, only a few series have published. We aimed to better describe phenotype of this condition, focus on morphological neurological features. Through national collaborative study, we report large French 59 affected males interstitial duplication. Most (93%) shared...
Epilepsy of infancy with migrating focal seizures was first described in 1995. Fifteen years later, KCNT1 gene mutations were identified as the major disease-causing this disease. Currently, data on epilepsy associated are heterogeneous and many questions remain unanswered including prognosis long-term outcome especially regarding epilepsy, neurological developmental status presence microcephaly. The aim study to assess from patients refine phenotype spectrum outcome. We used mind maps based...
Importance Minor head trauma (HT) is one of the most common causes hospitalization in children. A diagnostic test could prevent unnecessary hospitalizations and cranial computed tomographic (CCT) scans. Objective To evaluate effectiveness serum S100B values reducing exposure to CCT scans in-hospital observation children with minor HT. Design, Setting, Participants This multicenter, unblinded, prospective, interventional randomized clinical trial used a stepped-wedge cluster design compare...
The human hypothalamus is a small deeply located region placed at the crossroad of neurovegetative, neuroendocrine, limbic, and optic systems. Although deep brain stimulation techniques have proven that it could be feasible to modulate these systems, targeting in particular specific nuclei white bundles, still challenging. Our goal was make synthesis relevant topographical data hypothalamus, under form magnetic resonance imaging maps useful for mastering its elaborated structure as well...
PurposeHypomelanosis of Ito (HI) is a skin marker somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to delineate further the pigmentary phenotype and clinical spectrum neurodevelopmental manifestations MTOR-related HI.MethodsFrom two cohorts totaling 71 patients mosaicism, we identified 14 Blaschko-linear one flag-like pigmentation abnormalities, psychomotor impairment or seizures, postzygotic variant skin. Patient records, including...
Objective GLUT1 deficiency syndrome (Glut1DS) is a treatable neurometabolic disease that causes wide range of neurological symptoms in children and adults. However, its diagnosis relies on an invasive test, i.e., lumbar puncture (LP) to measure glycorrhachia, and, sometimes complex, molecular analyses the <i>SLC2A1</i> gene. This procedure limits number patients able receive standard care. We wished validate diagnostic performance METAglut1™, simple blood test quantifies at erythrocyte...
Brain magnetic resonance imaging (MRI) motor development score (MDS) correlations were used to analyze the natural time-course of hypomyelinating PLP1-related disorders (Pelizaeus-Merzbacher disease [PMD] and spastic paraplegia type 2).Thirty-five male patients (ranging from 0.7-43.5y at first MRI) with disorder prospectively followed over 7 years. Patients classified according best function acquired before 5 years into five categories (from PMD0 without acquisition PMD4 autonomous walking)....
Xq28 duplications encompassing MECP2 have been described in male patients with a severe neurodevelopmental disorder associated hypotonia and spasticity, learning disability, stereotyped movements, recurrent pulmonary infections. We report on standardized brain magnetic resonance imaging (MRI) data of 30 affected carrying an duplication involving various sizes (228 kb to 11.7 Mb). The aim this study was seek malformations attempt determine whether variations features could be explained by...
Neuro-ichthyotic syndromes are a group of rare genetic diseases mainly associated with perturbations in lipid metabolism, intracellular vesicle trafficking, or glycoprotein synthesis. Here, we report patient neuro-ichthyotic syndrome deleterious mutations the ALDH1L2 (aldehyde dehydrogenase 1 family member L2) gene encoding for mitochondrial 10-formyltetrahydrofolate dehydrogenase. Using fibroblast culture established from ALDH1L2-deficient patient, demonstrated that enzyme loss impaired...