Thierry Bienvenu
Responsable de l'équipe, Génétique, physiopathologie et approches thérapeutiques des maladies mentales
Institution:
USPC - SET - SVS
Summary
Published articles Show More
Loss of Function of KCNC1 is associated with intellectual disability without seizures
Published in European Journal of Human Genetics
p.(Arg320His) mutation in the KCNC1 gene in human 11p15.1 has recently been identified in patients with progressive myoclonus epilepsies, a group of rare inherited disorders manifesting with action myoclonus, myoclonic epilepsy, and ataxia. This KCNC1 variant causes a dominant-negative effect. Here we describe three patients from the same family wi...
Fasudil treatment in adult reverses behavioural changes and brain ventricular enlargement in Oligophrenin-1 mouse model ...
...
Published in Human Molecular Genetics
Loss of function mutations in human Oligophrenin1 (OPHN1) gene are responsible for syndromic intellectual disability (ID) associated with cerebellar hypoplasia and cerebral ventricles enlargement. Functional studies in rodent models suggest that OPHN1 linked ID is a consequence of abnormal synaptic transmission and shares common pathophysiological ...
Altered microtubule dynamics and vesicular transport in mouse and human MeCP2-deficient astrocytes
...
Published in Human Molecular Genetics
Rett syndrome (RTT) is a rare X-linked neurodevelopmental disorder, characterized by normal post-natal development followed by a sudden deceleration in brain growth with progressive loss of acquired motor and language skills, stereotypic hand movements and severe cognitive impairment. Mutations in the methyl-CpG-binding protein 2 (MECP2) cause more...
Theses Show More
Experience
Responsable de l'équipe
université Paris Descartes
Génétique, physiopathologie et approches thérapeutiques des maladies mentales; Développement, Reproduction, Cancer (DRC); UMR 8104 / UMR_S1016, Institut Cochin; Faculté de Médecine
