A5079823839- RNA modifications and cancer
- Neurogenetic and Muscular Disorders Research
- Congenital Anomalies and Fetal Surgery
- Genetic Neurodegenerative Diseases
- Metabolism and Genetic Disorders
- Genomic variations and chromosomal abnormalities
- Mitochondrial Function and Pathology
- Amino Acid Enzymes and Metabolism
- Eosinophilic Disorders and Syndromes
- Genomics and Rare Diseases
- Cardiovascular Effects of Exercise
- Parkinson's Disease Mechanisms and Treatments
- Diet and metabolism studies
- Connexins and lens biology
- Neurological disorders and treatments
- Erythrocyte Function and Pathophysiology
- Forensic and Genetic Research
- Pediatric Pain Management Techniques
- Calpain Protease Function and Regulation
- Endoplasmic Reticulum Stress and Disease
- Biotin and Related Studies
- Inflammatory Bowel Disease
- Herpesvirus Infections and Treatments
- Autoimmune and Inflammatory Disorders
- Diagnosis and treatment of tuberculosis
Hôpital Couple Enfant
2020-2024
Université Grenoble Alpes
2023-2024
Centre Hospitalier Universitaire de Grenoble
2013-2024
Inserm
2019-2023
Hospices Civils de Lyon
2023
University of Florence
2023
Université Claude Bernard Lyon 1
2023
Centre National de la Recherche Scientifique
2023
Institut NeuroMyoGène
2023
Université de Tours
2019
<b>Objective:</b> To describe the current treatment; clinical, biochemical, and molecular findings; clinical follow-up of patients with aromatic l-amino acid decarboxylase (AADC) deficiency. <b>Method:</b> Clinical biochemical data 78 AADC deficiency were tabulated in a database pediatric neurotransmitter disorders (JAKE). A total 46 have been previously reported; 32 are described for first time. <b>Results:</b> In 96% AADC-deficient patients, symptoms (hypotonia 95%, oculogyric crises 86%,...
To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal syndrome), an autosomal dominant condition recently shown to be a sodium channelopathy involving SCN9A.An international consortium clinicians, scientists, and affected families was formed. Clinical details all accessible worldwide were collected, including age at onset, features attacks, problems between investigational results, treatments tried, evolution over time. A validated...
Abstract Background Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by degeneration of the anterior horn cells spinal cord. Nusinersen has been covered public healthcare in France since May 2017. The aim this article to report results after 1 year treatment with intrathecal nusinersen children SMA types and 2 France. Comparisons between onset (T0) (Y1) were made terms motor function need for nutritional ventilatory support. Motor development...
Abstract Objective Eosinophilic myositis (EM) constitutes a rare pathological entity characterized by eosinophilic infiltration of skeletal muscles, usually associated with parasite infections, systemic disorders, or the intake drugs L ‐tryptophan. The exclusion such causes defines spectrum idiopathic EM. Based on protein analysis performed in one affected patient, we identified gene encoding calpain‐3, CAPN3 , as candidate for subset Methods We screened mutations using DHPLC and direct...
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,...
<i>Background:</i> Episodic ataxia type 2 (EA2) is characterized by paroxysmal bouts of and progressive cerebellar dysfunction. Other manifestations may also be associated, such as migraine attacks with or without aura, absence epilepsy mental retardation. <i>Methods:</i> To describe the intrafamilial variability clinical 3 patients harboring a novel CACNA1A point mutation in exon 7 (nucleotide insertion c.1063dupG) typical EA2 mutation. <i>Results:</i>...
Aromatic l-amino acid decarboxylase (AADC) deficiency is an autosomal recessive inborn error of metabolism, affecting catecholamines and serotonin biosynthesis. Cardinal signs consist in psychomotor delay, hypotonia, oculogyric crises, dystonia, extraneurological symptoms. Patients methods: We present a retrospective descriptive multicentric study concerning ten French children with biochemical molecular confirmed diagnosis AADC deficiency. Results: Clinical presentation most our patients...
Cornelia de Lange syndrome is a multisystemic developmental disorder mainly related to novo heterozygous NIPBL mutation. Recently, somatic mosaicism has been highlighted through buccal cell DNA study in some patients with negative molecular analysis on leukocyte DNA. Here, we present series of 38 mutation identified by Sanger sequencing. The diagnosis was based the following criteria: (i) intrauterine growth retardation and postnatal short stature, (ii) feeding difficulties and/or...
We report four infants (two males, two females) with ring 14 chromosome presenting early-onset partial epilepsy. The first seizure occurred between 3 and 6 months (3, 3, 4, 6mo respectively). In all cases, diagnosis was based on early focal seizures, rather than psychomotor retardation or morphological features, which were not prominent at onset. Moreover, despite the young age of patients high frequency neither epileptic spasms nor progression to 'epileptic encephalopathy', such as...
The relevance of registries as a key component for developing clinical research rare diseases (RD) and improving patient care has been acknowledged by most stakeholders. As recent studies pointed to several limitations RD our challenge was (1) improve standardization data comparability; (2) facilitate interoperability between existing registries; (3) limit the amount incomplete data; (4) quality. This report describes innovative concept DM-Scope Registry that developed achieve these...
Background and ObjectivesHeterozygous variants in RAR-related orphan receptor B (RORB) have recently been associated with susceptibility to idiopathic generalized epilepsy. However, few reports published so far describing pathogenic of this gene patients epilepsy intellectual disability (ID). In study, we aimed delineate the phenotype RORB provide arguments favor pathogenicity variants.MethodsThrough an international collaboration, analyzed seizure characteristics, EEG data, genotypes a...
The case of an hyperthermia-induced sudden death in infant with anhidrotic dysplasia is reported. This disease, easily diagnosed, should now be better known and its early assessment, thermal monitoring might improve the initial severe prognosis. A genetic counselling possible.
<title>Abstract</title> <bold>Background</bold>: Spinal muscular atrophy type 1 (SMA1) is the most severe and early form of SMA, a genetic disease with motor neuron degeneration. Onasemnogene abeparvovec gene therapy (GT) has changed SMA1’s natural history, but real-world data scarce. <bold>Methods</bold>: A French national expert committee identified 95 newly diagnosed treatment-naive SMA1 cases between June 2019 2022, all genetically confirmed. multicentric national-wide study was...
Abstract Background Spinal muscular atrophy (SMA) is a rare genetic neuromuscular disorder due to an autosomal recessive mutation in the survival motor neuron 1 gene ( SMN1 ) causing degeneration of anterior horn cells spinal cord and resulting muscle atrophy. The aim this paper report 36-month follow-up children with SMA treated nusinersen before age 3 years. Change function, nutritional ventilatory support orthopedics outcomes were evaluated at baseline 36 months after intrathecal...