PhD - Laboratory of Human Neurogenetics Marseille, France
FRANCE
PhD – Laboratory of Human Neurogenetics Marseille, France.
After a PhD in human genetics during which he took part in the mapping of the human genome, Laurent Villard performed post-doctoral research on Down syndrome in Denver (CO, USA).
In 1997, he became Associate Professor at the French National Institutes of Health (Inserm) to study the genetic basis of intellectual disability. He conducted an extensive work on the X-linked alpha-thalassemia mental retardation (ATR-X) syndrome.
In 2002, he was made Research Professor and he currently leads a group whose research interests include Rett syndrome and neonatal epilepsies (www.germaco.net). His Rett syndrome projects are focused on translational approaches and therapeutic development using pre-clinical models.
He is a member of several societies and scientific advisory boards, a member of the Rett Syndrome Networked Database, of the patient support groups think-tank (Gram) at Inserm and he was the coordinator of the former EuroRETT ERA-Net network.
He teaches human and medical genetics and he is an author of >100 scientific publications during the last 20 years (about a third on Rett syndrome).
PUBLICATIONS:
Early onset epileptic encephalopathy as the initial clinical presentation of WDR45 deletion in a male patient.
Abidi A et al.
European Journal of Human Genetics, 2015, in press.
Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability..
Choucair N et al.
Molecular Cytogenetics, 2015, 8:39.
A recurrent KCNQ2 pore mutation causing early epileptic encephalopathy has a moderate effect on M current but alters subcellular localization of Kv7 channels.
Abidi A et al.
Neurobiology of Disease, 2015, 80:80-92.
Variable clinical expression in patients with mosaicism for KCNQ2 mutations.
Milh M et al.
American Journal of Medical Genetics A, 2015, in press.
A novel homozygous TBC1D24 mutation causing mutli-focal myoclonus with cerebellar involvement.
Doummar D et al.
Movement Disorders, 2015, in press.
Contribution of copy number variants (CNVs) to congenital, unexplained intellectual and developmental disabilities in Lebanese patients.
Choucair N et al.
Molecular Cytogenetics, 2015, 8:26.
Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.
Poulat AL et al.
Epilepsy Research, 2015, 111:72-77.
Epilepsy in Rett syndrome, lessons from the Rett networked database.
Nissenkorn A et al.
Epilepsia, 2015, 56:569-576.