Oriane Trouillard

发表

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

R. Delorme, C. Gillberg, M. Leboyer, 2009, Biological Psychiatry.

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy

M. Baulac, M. Ruberg, C. Depienne, 2006, Human mutation.

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy

C. Depienne, A. Afenjar, O. Dulac, 2009, Epilepsy Research.

Autism, language delay and mental retardation in a patient with 7q11 duplication

M. Leboyer, C. Betancur, C. Depienne, 2009, BMJ Case Reports.

DCC mutation update: Congenital mirror movements, isolated agenesis of the corpus callosum, and developmental split brain syndrome

Timothy J. Edwards, P. Lockhart, C. Walsh, 2018, Human mutation.

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

M. Ruberg, F. Rivier, C. Depienne, 2009, PLoS genetics.

Mutations in DCC cause isolated agenesis of the corpus callosum with incomplete penetrance

Timothy J. Edwards, P. Lockhart, L. Richards, 2017, Nature Genetics.

Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature

C. Depienne, J. Koht, E. Roze, 2016, Tremor and other hyperkinetic movements.

Mutations in the netrin-1 gene cause congenital mirror movements

M. Vidailhet, S. Robertson, C. Jasoni, 2017, The Journal of clinical investigation.

The supplementary motor area modulates interhemispheric interactions during movement preparation

S. Lehéricy, S. Meunier, M. Vidailhet, 2019, Human brain mapping.

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy

I. Scheffer, M. Baulac, S. Berkovic, 2007, Epilepsy Research.

Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

Y. Agid, M. Vidailhet, P. Krack, 2019, Tremor and other hyperkinetic movements.

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

C. Depienne, C. Cazeneuve, R. Nabbout, 2008, Journal of Medical Genetics.

Mutations and Deletions in PCDH19 Account for Various Familial or Isolated Epilepsies in Females

F. Rivier, C. Depienne, P. Berquin, 2011, Human mutation.

Congenital mirror movements are associated with defective polymerisation of RAD51

A. Trembleau, D. Busso, A. Méneret, 2023, Journal of Medical Genetics.

Parental 19q loss and PEG3 expression in oligodendrogliomas.

K. Hoang-Xuan, Y. Marie, M. Sanson, 2004, Cancer genetics and cytogenetics.

Non cell-autonomous role of DCC in the guidance of the corticospinal tract at the midline

S. Meunier, M. Vidailhet, M. Cincotta, 2017, Scientific Reports.

Autism, language delay and mental retardation in a patient with 7q11 duplication

M. Leboyer, C. Betancur, C. Depienne, 2007, Journal of Medical Genetics.

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

Oriane Trouillard, Christel Depienne, Emmanuel Roze, 2014, Nature Genetics.

ADCY5-related dyskinesia: Broader spectrum and genotype–phenotype correlations

E. Eichler, O. Korvatska, M. Dorschner, 2015, Neurology.

SCN1A-related epilepsy with recessive inheritance: Two further families.

C. Depienne, V. des Portes, A. Rastetter, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia

N. Drouot, A. Méneret, T. Wirth, 2024, Movement disorders : official journal of the Movement Disorder Society.

Congenital mirror movements: Mutational analysis of RAD51 and DCC in 26 cases

S. Rossi, L. Defebvre, M. Vidailhet, 2014, Neurology.

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

C. Adam, S. Dupont, C. Depienne, 2010, Journal of Medical Genetics.

STXBP1‐related encephalopathy presenting as infantile spasms and generalized tremor in three patients

C. Depienne, D. Lacombe, C. Chiron, 2011, Epilepsia.