Zeynep Gokce‐Samar
A5041268759- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Neuroscience and Neuropharmacology Research
- Epilepsy research and treatment
- Erythrocyte Function and Pathophysiology
- Endoplasmic Reticulum Stress and Disease
- RNA and protein synthesis mechanisms
- Health Systems, Economic Evaluations, Quality of Life
- Connexins and lens biology
- Genetic factors in colorectal cancer
Université Claude Bernard Lyon 1
2023-2025
Hospices Civils de Lyon
2022-2025
Centre National de la Recherche Scientifique
2023
Institut NeuroMyoGène
2023
Inserm
2023
University of Florence
2023
Abstract Many patients with developmental and epileptic encephalopathies present variants in genes coding for GABA A receptors. These are presumed to cause loss-of-function receptors leading reduced neuronal GABAergic activity. Yet, receptor have diverse clinical phenotypes many refractory treatment despite the availability of drugs that enhance Here we show 44 pathogenic GABRB3 missense segregate into gain-of-function groups respective display distinct phenotypes. The cohort ( n = 27...
Abstract The most characteristic syndrome related to KCNT1 is epilepsy of infancy with migrating focal seizures. Unifocal epilepsies have also been reported, the common being sleep‐related hypermotor (SHE) frontal origin. Only 10 cases extrafrontal an insulo‐opercular or temporal origin reported. Among these patients suffering from epilepsy, only seven underwent stereoelectroencephalography (S‐EEG) describing multifocal ictal onsets. We performed three S‐EEGs and one S‐EEG in two unrelated...
The major spliceosome contains five small nuclear RNAs (snRNAs; U1, U2, U4, U5 and U6) essential for splicing. Variants in RNU4-2, encoding cause a neurodevelopmental disorder called ReNU syndrome. We investigated de novo variants 50 snRNA-encoding genes French cohort of 23,649 individuals with rare disorders gathered additional cases through international collaborations. Altogether, we identified 145 previously unreported probands (likely) pathogenic RNU4-2 21 and/or recurrent RNU5B-1...
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...
Purpose: RAB11B was described previously once with a severe form of intellectual disability. We aim at validation and delineation the role in neurodevelopmental disorders.Methods: present 13 individuals disease-associated variants RAB11B. performed cross-sectional analysis to identify clinical spectrum core phenotype. Additionally, structural effects were assessed by molecular modelling.Results: Seven distinct de novo missense identified, three them recurrent (p.(Gly21Arg), p.(Val22Met)...