Publications by authors named "Dorothee Ville"

50Publications

Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant.

Epileptic Disord 2020 Jun;22(3):327-335

Paediatric Clinical Epileptology and Functional Neurology Department, Reference Center of rare epilepsies, Member of the ERN EpiCARE, University Hospitals of Lyon (HCL), Lyon, France.

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http://dx.doi.org/10.1684/epd.2020.1168DOI Listing
June 2020

Defining and expanding the phenotype of -associated developmental epileptic encephalopathy.

Neurol Genet 2019 Dec 10;5(6):e373. Epub 2019 Dec 10.

Department of Epilepsy Genetics and Precision Medicine (K.J.M., E.G., G.R., R.S.M.), The Danish Epilepsy Centre Filadelfia, Dianalund, Denmark; Institute for Regional Health Services (K.J.M., E.G., R.S.M.), University of Southern Denmark, Odense; Institute of Human Genetics (D.M., R. Jamra, A.F., J.R.L.), University of Leipzig Medical Center, Germany; Institute of Structural Biology (R. Janowski, D.N.), Helmholtz Zentrum München - German Research Center for Environmental Health, Neuherberg, Germany; Department of Paediatric Radiology (C.R.), University of Leipzig Medical Center, Germany; Department of Epilepsy, Sleep and Pediatric Neurophysiology (J.T.), Lyon University Hospital, France; Neuropediatric Unit (A.-L.P., D.M.V., G.L.), Lyon University Hospital, France; Department of Medical Genetics (N.C., G.L.), Lyon University Hospital, France; GenDev Team (N.C.), CNRS UMR 5292, INSERM U1028, CNRL and University of Lyon, France; Department of Genetics (E.B.), University Medical Center Utrecht, The Netherlands; Department of Child Neurology (K.G.), Brain Center Rudolf Magnus, University Medical Center Utrecht, The Netherlands; Department of Paediatrics (A.P.B.), Copenhagen University Hospital Rigshospitalet, Denmark; Baylor College of Medicine (S.M., K.N.), Children's Hospital of San Antonio; Undiagnosed Diseases Program (G.B., C.P.), Genetic Services of Western Australia, Department of Health, Government of Western Australia, Perth; Western Australian Register of Developmental Anomalies (G.B., D.G.), Australia; Telethon Kids Institute and the School of Paediatrics and Child Health (G.B.), University of Western Australia, Perth; Linear Clinical Research (L.D.), WA, Australia; Center of Human Genetics (S.S), Jena University Hospital, Germany; Department of Neuropediatrics (A.D.), Jena University Hospital, Germany; Division of Neurology (K.L.H.), Children's Hospital of Philadelphia, PA; Division of Neuropediatrics (A.M.), University of Leipzig Medical Center, Germany; Amplexa Genetics (H.H.), Odense, Denmark; Clinic for Children (H.H.), Værløse, Denmark; Center for Integrative Brain Research (G.M.), Seattle Children's Research Institute, WA; Department of Pediatrics (G.M.), University of Washington, Seattle; Medical Genetics Unit (F.B.), Department of Life, Health and Environmental Sciences, University of L'Aquila, Italy; Istituto Dermopatico dell'Immacolata (F.B.), IDI-IRCCS, Rome, Italy; Institute of Human Genetics (T.B., M.H.), University Medical Center Hamburg-Eppendorf, Germany; Childrens Hospital (J.D.), University Medical Center Hamburg-Eppendorf, Germany; University of Copenhagen (G.R.), Denmark; Institute for Human Genetics (P.M.), University Hospital Magdeburg, Germany; Children's Hospital A. Meyer (R.G., A.V.), University of Florence, Italy; and Institute of Pharmaceutical Biotechnology (D.N.), Ulm University, Germany.

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http://dx.doi.org/10.1212/NXG.0000000000000373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927360PMC
December 2019

Chromatin remodeling dysfunction extends the etiological spectrum of schizophrenia: a case report.

BMC Med Genet 2020 01 8;21(1):10. Epub 2020 Jan 8.

Institut Neuromyogène, métabolisme énergétique et développement durable, CNRS UMR 5310, INSERM U1217, Université de Lyon, Université Claude Bernard Lyon 1, Lyon, France.

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http://dx.doi.org/10.1186/s12881-019-0946-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6950831PMC
January 2020

Infantile-Onset Paroxysmal Movement Disorder and Episodic Ataxia Associated with a TBC1D24 Mutation.

Neuropediatrics 2019 10 21;50(5):308-312. Epub 2019 Jun 21.

Pediatric Neurology, Child and Adolescent Department, University Hospitals, Geneva, Switzerland.

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http://dx.doi.org/10.1055/s-0039-1688410DOI Listing
October 2019

Experience of follow-up, quality of life, and transition from pediatric to adult healthcare of patients with tuberous sclerosis complex.

Epilepsy Behav 2019 07 9;96:23-27. Epub 2019 May 9.

Department of Pediatric Neurology, Reference Centre for Rare Epilepsies, Necker-Enfants Malades, AP-HP, Paris, France; Laboratory of Translational Research for Neurological Disorders, INSERM UMR 1163, Imagine Institute, Paris, France; Université Paris Descartes -Sorbonne Paris Cité, Imagine Institute, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15255050183082
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http://dx.doi.org/10.1016/j.yebeh.2019.04.027DOI Listing
July 2019

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.

Brain Dev 2018 Oct 31;40(9):768-774. Epub 2018 May 31.

Centre de Référence Déficience Intellectuelle de Causes Rares, Paris, France; APHP, Service de Neurologie Pédiatrique, Hôpital Armand Trousseau, Paris, France; APHP, Centre de Référence des Mouvements Anormaux de l'Enfant, Hôpital Armand Trousseau, Paris, France; Sorbonne Université, GRC n°19, Pathologies Congénitales du Cervelet-LeucoDystrophies, AP-HP, Hôpital Armand Trousseau, F-75012 Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S03877604183021
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http://dx.doi.org/10.1016/j.braindev.2018.05.008DOI Listing
October 2018

Outcome of isolated agenesis of the corpus callosum: A population-based prospective study.

Eur J Paediatr Neurol 2018 Jan 5;22(1):82-92. Epub 2017 Sep 5.

Université de Lyon, F-69008 Lyon, France; Radiologie pédiatrique et médecine fœtale, Hôpital Femme Mère Enfant, F-69677 Bron, France.

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http://dx.doi.org/10.1016/j.ejpn.2017.08.003DOI Listing
January 2018

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Brain 2017 May;140(5):1316-1336

The Danish Epilepsy Centre, Dianalund, Denmark.

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http://dx.doi.org/10.1093/brain/awx054DOI Listing
May 2017

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability.

J Pediatr 2017 06 8;185:160-166.e1. Epub 2017 Mar 8.

APHP, GH Pitié Salpêtrière, Department of genetics, unit of medical genetics, reference center for intellectual disabilities of rare causes, Paris, France; GRC Intellectual Disability and Autism, UPMC, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, Inserm U 1127, CNRS UMR 7225, ICM, Paris, France; APHP, Hôpital Armand-Trousseau, Department of genetics, Division of clinical genetics, Paris, France.

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http://dx.doi.org/10.1016/j.jpeds.2017.02.023DOI Listing
June 2017

Efficacy of a ketogenic diet in resistant myoclono-astatic epilepsy: A French multicenter retrospective study.

Epilepsy Res 2017 03 20;131:64-69. Epub 2017 Feb 20.

Hôpital Universitaire de Strasbourg, Centre de Référence des Epilepsies Rares, France. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2017.02.005DOI Listing
March 2017

Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.

Am J Hum Genet 2016 Dec 23;99(6):1368-1376. Epub 2016 Nov 23.

Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; INSERM 1141, Service de Neurologie Pédiatrique, Hôpital Robert Debré, 75019 Paris, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.10.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5142104PMC
December 2016

The ketogenic diet can be used successfully in combination with corticosteroids for epileptic encephalopathies.

Epilepsy Behav 2015 Jul 8;48:61-5. Epub 2015 Jun 8.

INSERM U1129 "Infantile Epilepsies and Brain Plasticity", Paris, France; University Paris Descartes, PRES Sorbonne Paris Cité, CEA, Gif sur Yvette, France; Fondation Ophtalmologique Rothschild, Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S15255050150010
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http://dx.doi.org/10.1016/j.yebeh.2015.03.003DOI Listing
July 2015

Homozygous TBC1D24 mutation in two siblings with familial infantile myoclonic epilepsy (FIME) and moderate intellectual disability.

Epilepsy Res 2015 Mar 25;111:72-7. Epub 2015 Jan 25.

Department of Medical Genetics, Hospices Civils de Lyon, Lyon, France; Université Lyon 1, Lyon, France; Neurophysiology and Epilepsy Unit, Neurological Hospital P. Wertheimer, Hospices Civils de Lyon, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2015.01.008DOI Listing
March 2015

Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.

Eur J Med Genet 2015 Feb 11;58(2):51-8. Epub 2014 Dec 11.

CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France; Department of Genetics, Lyon University Hospital, Lyon, France; Claude Bernard Lyon I University, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2014.11.007DOI Listing
February 2015

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.

Neurology 2014 Jun 9;82(23):2101-6. Epub 2014 May 9.

From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge

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http://dx.doi.org/10.1212/WNL.0000000000000488DOI Listing
June 2014

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

Am J Med Genet A 2014 Aug 8;164A(8):2025-8. Epub 2014 Apr 8.

Department of Molecular Genetics, Lyon University Hospital, Lyon, France; Claude Bernard Lyon I University, Lyon, France; CRNL, CNRS UMR 5292, INSERM U1028, Lyon, France.

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http://dx.doi.org/10.1002/ajmg.a.36547DOI Listing
August 2014

Mutations in QARS, encoding glutaminyl-tRNA synthetase, cause progressive microcephaly, cerebral-cerebellar atrophy, and intractable seizures.

Am J Hum Genet 2014 Apr 20;94(4):547-58. Epub 2014 Mar 20.

Department of Pediatric Neurology, Centre de Reference Epilepsies Rares, Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris, 75015 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, Université Paris Descartes, 75006 Paris, France; Institut National de la Santé et de la Recherche Médicale U1129, NeuroSpin, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, 91191 Gif-sur-Yvette, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297140010
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http://dx.doi.org/10.1016/j.ajhg.2014.03.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3980424PMC
April 2014

A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology.

Eur J Paediatr Neurol 2014 Mar 18;18(2):176-82. Epub 2013 Nov 18.

Pediatric Neurology Department, Hôpital Femme Mère Enfant, Centre Hospitalier Universitaire de Lyon, 59 Boulevard Pinel, 69500 Bron, France.

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http://dx.doi.org/10.1016/j.ejpn.2013.11.005DOI Listing
March 2014

Early diagnosis of pyridoxine-dependent epilepsy: video-EEG monitoring and biochemical and genetic investigation.

Eur J Paediatr Neurol 2013 Nov 31;17(6):676-80. Epub 2013 Jul 31.

Pediatric Neurology Department and Center of Reference for Rare Intellectual Disorders, Tuberous Sclerosis and Rare Epileptic Disorders, University Hospitals of Lyon (HCL), Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2013.06.005DOI Listing
November 2013

Pre- and postnatal imaging of early cerebral damage in Sturge-Weber syndrome.

Pediatr Radiol 2013 Nov 23;43(11):1536-9. Epub 2013 Jul 23.

Pediatric and Fetal Imaging, Hôpital Femme Mère Enfant, 59, boulevard Pinel, 69677, Lyon-Bron, France.

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http://dx.doi.org/10.1007/s00247-013-2743-9DOI Listing
November 2013

Autoimmune limbic encephalopathy and anti-Hu antibodies in children without cancer.

Neurology 2013 Jun 8;80(24):2226-32. Epub 2013 May 8.

French Reference Center on Paraneoplastic Neurological Syndrome, Hospices Civils de Lyon, Hôpital Neurologique, Neurologie B, Bron, France.

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http://dx.doi.org/10.1212/WNL.0b013e318296e9c3DOI Listing
June 2013

[Daily life of an epileptic child].

Authors:
Dorothée Ville

Rev Prat 2012 Dec;62(10):1410-4

Service de neuropédiatrie, hôpital Femme-Mère-Enfant, 69500 Bron, France.

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December 2012

Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report.

Am J Med Genet A 2012 Dec 19;158A(12):3174-81. Epub 2012 Nov 19.

Centre de référence des anomalies du développement, Service de Cytogénétique Constitutionnelle, Hospices Civils de Lyon, Bron, France.

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http://dx.doi.org/10.1002/ajmg.a.35588DOI Listing
December 2012

Prenatal diagnosis of 'isolated' Dandy-Walker malformation: imaging findings and prenatal counselling.

Prenat Diagn 2012 Feb;32(2):185-93

Département d'Imagerie Pédiatrique et Foetale, Hôpital Femme Mère Enfant, Université Claude Bernard Lyon I, Lyon, France.

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http://dx.doi.org/10.1002/pd.3828DOI Listing
February 2012

Angelman syndrome and pseudo-hypsarrhythmia: a diagnostic pitfall.

Epileptic Disord 2011 Sep;13(3):331-5

Department of Neonatology, CHU de Saint-Etienne, Saint Etienne, France.

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http://dx.doi.org/10.1684/epd.2011.0446DOI Listing
September 2011

Ring 14 chromosome presenting as early-onset isolated partial epilepsy.

Dev Med Child Neurol 2009 Nov 31;51(11):917-22. Epub 2009 Mar 31.

Department of Pediatric Neurology, Hôpital Femme Mère Enfant, Lyon, France.

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http://dx.doi.org/10.1111/j.1469-8749.2009.03292.xDOI Listing
November 2009

Can fever treat epileptic encephalopathies?

Epilepsy Res 2007 Oct 17;77(1):44-61. Epub 2007 Sep 17.

Department of Child Neuropsychiatry G. Gaslini Hospital, University of Genoa, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2007.05.012DOI Listing
October 2007

Cryptogenic late-onset epileptic spasms: an overlooked syndrome of early childhood?

Epilepsia 2006 Jun;47(6):1035-42

Department of Clinical Neurophysiology, Saint Vincent de Paul Hospital, Paris, France.

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http://dx.doi.org/10.1111/j.1528-1167.2006.00518.xDOI Listing
June 2006

Early pattern of epilepsy in the ring chromosome 20 syndrome.

Epilepsia 2006 Mar;47(3):543-9

Department of Clinical Neurophysiology, Hôpital Necker Enfants Malades, Paris, France.

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http://dx.doi.org/10.1111/j.1528-1167.2006.00465.xDOI Listing
March 2006