Nathalie Dorison

Nathalie Dorison

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Nathalie Dorison

Nathalie Dorison

Publications by authors named "Nathalie Dorison"

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Parasagittal hemispherotomy in hemispheric polymicrogyria with electrical status epilepticus during slow sleep: Indications, results and follow-up.

Seizure 2019 Oct 23;71:190-200. Epub 2019 Jul 23.

Pediatric Neurosurgery Unit, Rothschild Foundation Hospital, 29 rue Manin, 75019, Paris, France.

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http://dx.doi.org/10.1016/j.seizure.2019.07.017DOI Listing
October 2019

Invasive evaluation in children (SEEG vs subdural grids).

Seizure 2018 Nov 16. Epub 2018 Nov 16.

Service de neurochirurgie pédiatrique, Fondation Rothschild 25-29, rue Manin Paris Cedex 19, France.

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https://linkinghub.elsevier.com/retrieve/pii/S10591311183054
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http://dx.doi.org/10.1016/j.seizure.2018.11.008DOI Listing
November 2018

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

Refractory epilepsy in preschool children with tuberous sclerosis complex: Early surgical treatment and outcome.

Seizure 2018 Aug 18;60:71-79. Epub 2018 Jun 18.

Pediatric Neurosurgery Unit, Rothschild Foundation Hospital, Paris, France.

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http://dx.doi.org/10.1016/j.seizure.2018.06.005DOI Listing
August 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:

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

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Eur J Paediatr Neurol 2018 May 16;22(3):369-379. Epub 2018 Feb 16.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.02.007DOI Listing
May 2018

Stereo-electroencephalography (SEEG) in children surgically cured of their epilepsy.

Neurophysiol Clin 2016 Feb 15;46(1):3-15. Epub 2016 Feb 15.

Service de neurochirurgie pédiatrique, fondation Rothschild, 25-29, rue Manin, 75940 Paris cedex 19, France; Inserm U1129, "infantile épilepsies and Brain Plasticity", Paris, France; University Paris Descartes, Sorbonne Paris Cité, Paris, France; CEA, Gif-sur-Yvette, France.

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http://dx.doi.org/10.1016/j.neucli.2015.12.001DOI Listing
February 2016

KCNJ10 mutations disrupt function in patients with EAST syndrome.

Nephron Physiol 2011 18;119(3):p40-8. Epub 2011 Aug 18.

Centre for Nephrology, University College London, Royal Free Hospital, London, UK.

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http://dx.doi.org/10.1159/000330250DOI Listing
April 2014

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Hum Mutat 2014 Apr 6;35(4):462-9. Epub 2014 Mar 6.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada; Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/humu.22511DOI Listing
April 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.

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

Retinal involvement in two unrelated patients with Myhre syndrome.

Eur J Med Genet 2012 Oct 7;55(10):541-7. Epub 2012 Jun 7.

Unité Fonctionnelle de Génétique Médicale, Groupe Hospitalier Pitié Salpêtrière, APHP 47-83, boulevard de l'hôpital, 75651 Paris cedex 13, France.

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http://dx.doi.org/10.1016/j.ejmg.2012.05.006DOI Listing
October 2012

Multiple cranial nerve neuropathies, microcephaly, neurological degeneration, and "fork and bracket sign" in the MRI: a distinct syndrome.

Am J Med Genet A 2010 Sep;152A(9):2297-300

Faculté de Médecine, Unité de Génétique Médicale, Université Saint-Joseph, Beirut, Lebanon.

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http://dx.doi.org/10.1002/ajmg.a.33417DOI Listing
September 2010

SOS1 and PTPN11 mutations in five cases of Noonan syndrome with multiple giant cell lesions.

Eur J Hum Genet 2009 Oct 8;17(10):1216-21. Epub 2009 Apr 8.

Service de Médecine Infantile III et Génétique Clinique, Hôpital d'Enfants CHU de Nancy, Faculté de Médecine Nancy Université Henri Poincaré, Vandoeuvre, France.

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http://dx.doi.org/10.1038/ejhg.2009.44DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2986637PMC
October 2009