O. Trouillard

发表

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.

The supplementary motor area modulates interhemispheric interactions during movement preparation

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

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

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

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.

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

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

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

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

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.

Mutations in the netrin-1 gene cause congenital mirror movements

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

ADCY5 mutation carriers display pleiotropic paroxysmal day and nighttime dyskinesias

M. Vidailhet, J. Friedman, E. Roze, 2016, Movement disorders : official journal of the Movement Disorder Society.

Correction: 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.

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

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

Elicited repetitive daily blindness

C. Depienne, A. Gaudric, K. Vahedi, 2009, Neurology.

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.

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

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

Congenital mirror movements: no mutation in DNAL4 in 17 index cases

M. Vidailhet, C. Depienne, E. Roze, 2014, Journal of Neurology.

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

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

Two novel epilepsy-linked mutations leading to a loss of function of LGI1.

M. Baulac, C. Depienne, S. Baulac, 2007, Archives of neurology.

Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA

C. Depienne, O. Trouillard, D. Heron, 2011, American journal of medical genetics. Part A.

De novo mutations in HCN1 cause early infantile epileptic encephalopathy

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

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.

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.

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

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

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

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

Association of Rare Genetic Variants in Opioid Receptors with Tourette Syndrome

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

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

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

Parental 19q loss and PEG3 expression in oligodendrogliomas.

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

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.

Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism

C. Depienne, O. Dulac, S. Baulac, 2011, Journal of Molecular Medicine.

Congenital mirror movements caused by a mutation in the DCC gene

E. Roze, A. Méneret, V. Brochard, 2015, Developmental medicine and child neurology.

Congenital mirror movements are associated with defective polymerisation of RAD51

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

Congenital mirror movements

E. Roze, A. Méneret, Quentin Welniarz, 2015, Neurology.

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

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

Mirror movements due to a TUBB3 variant

O. Trouillard, C. Dubacq, D. Gras, 2023, Pediatric Neurology.