Diane Doummar

Diane Doummar

UNVERIFIED PROFILE

Are you Diane Doummar?   Register this Author

Register author
Diane Doummar

Diane Doummar

Publications by authors named "Diane Doummar"

Are you Diane Doummar?   Register this Author

55Publications

2300Reads

9Profile Views

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.

Eur J Paediatr Neurol 2019 May 22;23(3):448-455. Epub 2019 Feb 22.

Department of Pediatrics, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2019.02.004DOI Listing
May 2019

SHH medulloblastoma in a young adult with a TCF4 germline pathogenic variation.

Acta Neuropathol 2019 Apr 8;137(4):675-678. Epub 2019 Mar 8.

Pediatric Oncology Department, SIREDO Oncology Centre (Care, Innovation, Research in Pediatric, Adolescent and Young Adults Oncology), Institut Curie, 26, rue d'Ulm, 75248, Paris Cedex 05, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00401-019-01983-4DOI Listing
April 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:

View Article

Download full-text PDF

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

Deep brain stimulation is effective in pediatric patients with GNAO1 associated severe hyperkinesia.

J Neurol Sci 2018 08 22;391:31-39. Epub 2018 May 22.

Département de Neurochirurgie, Centre Hospitalier Régional Montpellier, France; Unité de Recherche sur les Comportements et Mouvements Anormaux (URCMA), France; UMR 5203 CNRS-U1191 INSERM-UM-Institut de Génomique Fonctionnelle - IGF, Montpellier, France. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jns.2018.05.018DOI Listing
August 2018

Respiratory Distress, Congenital Hypothyroidism and Hypotonia in a Newborn.

Respiration 2016 6;92(3):188-91. Epub 2016 Sep 6.

Service de Pneumologie Pédiatrique, Hôpital Armand Trousseau, Assistance Publique Hôpitaux de Paris, Centre national de référence des maladies respiratoires rares RespiRare, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000449136DOI Listing
September 2017

Single-Step Rapid Diagnosis of Dopamine and Serotonin Metabolism Disorders.

ACS Omega 2017 Sep 19;2(9):5962-5972. Epub 2017 Sep 19.

Letiam, Lip(Sys), EA7357, IUT d'Orsay, Université Paris Sud, Plateau de Moulon, 91400 Orsay, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1021/acsomega.7b01008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6044980PMC
September 2017

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

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

The Danish Epilepsy Centre, Dianalund, Denmark.

View Article

Download full-text PDF

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

Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness.

Case Rep Psychiatry 2017 25;2017:7582780. Epub 2017 May 25.

Department of Child and Adolescent Psychiatry, Reference Centre for Rare Psychiatric Diseases, AP-HP, Groupe Hospitalier Pitié-Salpêtrière, Université Pierre et Marie Curie, 47-83 Bd de l'Hôpital, 75013 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2017/7582780DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5463149PMC
May 2017

ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.

Brain 2016 11;139(11):e64

Assistance Publique-Hôpitaux de Paris, Département de Génétique and Centre de Référence Déficiences Intellectuelles de Causes Rares and GRC UPMC "Déficiences Intellectuelles et Autisme", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/aww181DOI Listing
November 2016

Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.

Orphanet J Rare Dis 2016 04 29;11(1):52. Epub 2016 Apr 29.

Department of Pediatric Neurology, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.

View Article

Download full-text PDF

Source
http://ojrd.biomedcentral.com/articles/10.1186/s13023-016-04
Publisher Site
http://dx.doi.org/10.1186/s13023-016-0433-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850685PMC
April 2016

Xp21 deletion in female patients with intellectual disability: Two new cases and a review of the literature.

Eur J Med Genet 2015 Jun-Jul;58(6-7):341-5. Epub 2015 Apr 23.

APHP, Hôpital Armand-Trousseau, Service de Génétique et d'Embryologie médicales, Paris, 75012, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejmg.2015.04.003DOI Listing
March 2016

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

Neurology 2015 Dec 4;85(23):2026-35. Epub 2015 Nov 4.

From the Departments of Neurology (D.-H.C., E.S.B., M.Y.D., P.D.S., M.W., T.D.B.), Psychiatry and Behavioral Sciences (O.K., W.H.R.), Genome Sciences (H.A.S., E.E.E.), Medicine (F.M.H., L.M.A., W.H.R.), and Pathology (M.O.D.), and Howard Hughes Medical Institute (E.E.E.), University of Washington, Seattle; Inserm (A.M., D. Grabli, M.V., O.T., E.R.), U 1127; CNRS (A.M., D. Grabli, M.V., O.T., E.R.), UMR 7225; Sorbonne Université (A.M., D. Grabli, M.V., O.T., E.R.), UPMC Univ Paris 06, UMR S 1127; Institut du Cerveau et de la Moelle Épinière (A.M., D. Grabli, M.V., O.T., E.R.), ICM; Départements de Neurologie (A.M., B.D., D. Grabli, M.V., O.T., E.R.) et de Génétique (C.M.), Hôpital de la Pitié Salpêtrière, AP-HP, Paris, France; the Departments of Neurosciences and Pediatrics (J.R.F.), University of California, San Diego; Rady Childrens Hospital (J.R.F.), San Diego, CA; Tel-Aviv Brill Community Mental Health Center (A.G.), Tel Aviv Medical School, Israel; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP; Centre de Référence Mouvements Anormaux de l'Enfant à l'Adulte (D.D.); Centre des Déficiences Intellectuelles de Causes Rares (C.M.), Paris; Département de Neurologie (M.A., C.T.), Hôpital Civil de Strasbourg; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (M.A., C.T.), Université de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (M.A., C.T.), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch, France; Phoenix Children's Hospital (S.B.), AZ; CHU de Bordeaux (N.D.-P.), Explorations Fonctionnelles du Système Nerveux; Service de Neuropédiatrie (D. Gras), Hôpital Robert Debré, AP-HP, Paris, France; Department of Child Neurology (K.M.M.), Lucile Packard Children's Hospital, Stanford University, Palo Alto, CA; Johns Hopkins All Children's Hospital (S.W.), St. Petersburg, FL; The Scripps Translational Science Institute (A.T.), Scripps Health and The Scripps Research Institute, S

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000002058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4676753PMC
December 2015

A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.

Mov Disord 2015 Sep 24;30(10):1431-2. Epub 2015 Jul 24.

Centre de Référence Malformations et Maladies Congénitales du Cervelet, Hôpital Trousseau, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.26303DOI Listing
September 2015

Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.

J Neurol Neurosurg Psychiatry 2015 Jul 16;86(7):782-5. Epub 2015 Jan 16.

Service de Neuropédiatrie, CHU Gui de Chauliac, Montpellier, France INSERM U 1051, Institut des Neurosciences de Montpellier, Montpellier, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jnnp-2014-309025DOI Listing
July 2015

Simultaneous determination of all forms of biopterin and neopterin in cerebrospinal fluid.

ACS Chem Neurosci 2014 Jul 8;5(7):533-41. Epub 2014 Apr 8.

LETIAM, GCAPS, EA 4041, IUT d'Orsay, Université Paris Sud 11, Plateau de Moulon. 91400 Orsay, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1021/cn4001928DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4102970PMC
July 2014

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

Neurology 2014 Jun 7;82(22):1999-2002. Epub 2014 May 7.

From INSERM, U 975, and CNRS 7225-CRICM (A.M., C.D., O.T., D.B., I.L., M.V., A.B., E.R.), Département de Neurologie (A.M., M.V., E.R.), Fédération de Génétique, Département de Génétique et de Cytogénétique (C.D., A.B.), Banque d'ADN et de cellules (I.L.), Department of Biostatistics (J.-L.G.), and Centre d'Investigation Clinique Pitié Neurosciences 1422 (E.R.), Hôpital Pitié-Salpêtrière, AP-HP, Paris; Université Pierre et Marie Curie-Paris-6 (A.M., C.D., M.V., A.B., E.R.), UMR_S 975, Paris; Laboratoire de Génétique (F.R.), Groupe hospitalier Lariboisière-Fernand Widal, AP-HP, Paris; INSERM UMR_S740 (F.R.), Université Paris 7 Denis Diderot, Paris, France; Unit of Neurology (M.C., A.B.), Florence Health Authority, Italy; Génétique Médicale (P.B.), CHU Paris Nord, Hôpital Jean Verdier, Bondy, France; Department of Human Genetics (J.W.), University Medical Center Hamburg-Eppendorf, Hamburg, Germany; Institute of Neurogenetics (A.W.), University of Lübeck, Germany; Service de Neuropédiatrie (D.D.), Hôpital Trousseau, AP-HP, Paris, France; Unit of Neurology (M.R.), Villa Sofia-Cervello Hospital, Palermo; Department of Neuroscience (S.R.), Section of Neurology and Clinical Neurophysiology, Azienda Ospedaliera Universitaria of Siena, Italy; Neurologie et Pathologie du Mouvement (L.D.), Neurologie A, Hopital Salengro, Centre Hospitalier Universitaire, EA 1046, Lille, France; Pediatric Neurology and Metabolism (L.D.M.), Universitair Ziekenhuis Brussel, Belgium; James J. and Joan A. Gardner Family Center for Parkinson's disease and Movement Disorders (A.J.E.), University of Cincinnati Academic Health Center, Cincinnati, OH; IRCCS Fondazione Stella Maris (S.F.), Calambrone, Pisa, Italy; Department of Neurology (S.K.), University Hospital Würzburg, Germany; Service de Génétique Clinique (C.Q.), Hôpital Sud, Rennes, France; Institute for Human Genetics (S.R.-S.), Uniklinik RWTH Aachen, Germany; Service de Génétique (G.P.), CHU Clémenceau, Caen, F

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000000477DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4105259PMC
June 2014

Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.

Eur J Hum Genet 2014 Jan 1;22(1):71-8. Epub 2013 May 1.

1] INSERM, U975 (CRICM), Institut du cerveau et de la moelle épinière (ICM), Hôpital Pitié-Salpêtrière, Paris, France [2] CNRS 7225 (CRICM), Hôpital Pitié-Salpêtrière, Paris, France [3] Université Pierre et Marie Curie-Paris-6 (UPMC), UMR_S 975, Paris, France [4] AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité fonctionnelle de génétique clinique, Paris, France [5] AP-HP, Hôpital Pitié-Salpêtrière, Département de Génétique et de Cytogénétique, Unité fonctionnelle de neurogénétique moléculaire et cellulaire, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2013.88DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3865413PMC
January 2014

The multiple faces of the ATP1A3-related dystonic movement disorder.

Mov Disord 2013 Sep 8;28(10):1457-9. Epub 2013 Mar 8.

AP-HP, Service de Neuropédiatrie, Hôpital Armand Trousseau Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.25396DOI Listing
September 2013

The use of harmonic scalpel in spinal surgery with contraindication to the use of monopolar electrocautery: a case report in a 14-year-old girl with a primary generalized dystonia and a 100° thoracic scoliosis.

Childs Nerv Syst 2012 Aug 29;28(8):1251-5. Epub 2012 Apr 29.

Université Pierre et Marie Curie Paris 6, Department of Pediatric Orthopaedics, Armand Trousseau Hospital, 26 Avenue du Dr Arnold Netter, 75571 Paris Cedex 12, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00381-012-1757-1DOI Listing
August 2012

Developmental and benign movement disorders in childhood.

Mov Disord 2010 Jul;25(10):1317-34

Centre d'Investigation Clinique, INSERM, AP-HP, Paris, France.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/mds.22944
Publisher Site
http://dx.doi.org/10.1002/mds.22944DOI Listing
July 2010

Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion.

Am J Med Genet A 2010 May;152A(5):1244-9

Department of Genetics, University Hospital of Rouen, Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33369DOI Listing
May 2010

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Mov Disord 2006 Feb;21(2):263-6

Department of Neurology, Saint-Antoine Hospital, Paris, France, and Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, Switzerland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mds.20699DOI Listing
February 2006