Publications by authors named "Anne de Saint Martin"

52Publications

Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.

Eur J Paediatr Neurol 2020 Sep 28;28:214-220. Epub 2020 Jun 28.

Unité de neurologie de l'enfant et de l'adolescent. Centre Hospitalo-Universitaire de Bordeaux, Hôpital Pellegrin Enfants, Place Amélie-Raba-Léon, 33 076, Bordeaux cedex, France.

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http://dx.doi.org/10.1016/j.ejpn.2020.06.002DOI Listing
September 2020

Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes.

Eur J Paediatr Neurol 2020 Jul 29;27:104-110. Epub 2020 May 29.

Department of Medical Genetics, Member of the ERN EpiCARE, University Hospital of Lyon, Lyon, France; Institut NeuroMyoGène, CNRS UMR 5310 - INSERM U1217, Lyon, France; Université de Lyon - Université Claude Bernard Lyon 1, Lyon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2020.05.003DOI Listing
July 2020

Remarkable effect of transdermal nicotine in children with CHRNA4-related autosomal dominant sleep-related hypermotor epilepsy.

Epilepsy Behav 2020 04 22;105:106944. Epub 2020 Feb 22.

Department of Neuromedicine and Movement Science, Faculty of Medicine and Health Sciences, Norwegian University of Science and Technology, Trondheim, Norway; Department of Neurology and Clinical Neurophysiology, St. Olav University Hospital, Trondheim, Norway.

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http://dx.doi.org/10.1016/j.yebeh.2020.106944DOI Listing
April 2020

Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome.

J Neurol Neurosurg Psychiatry 2020 04 6;91(4):444-445. Epub 2019 Nov 6.

Faculté de Médecine de Sorbonne Université, UMR S 1127, Inserm U 1127, and CNRS UMR 7225, and Institut du Cerveau et de la Moelle épinière, Paris, France

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http://dx.doi.org/10.1136/jnnp-2019-321694DOI Listing
April 2020

Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
July 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://www.nature.com/articles/s41436-018-0060-2
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http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 2019

Atonic seizures in children with surgically remediable epilepsy: a motor system seizure phenotype?

Epileptic Disord 2017 Sep;19(3):315-326

Medical and Surgical Epilepsy Unit, Hautepierre Hospital, University of Strasbourg, Strasbourg, IDEE Epilepsy Institute, Lyon, France.

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http://dx.doi.org/10.1684/epd.2017.0930DOI Listing
September 2017

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Am J Hum Genet 2017 Sep 17;101(3):428-440. Epub 2017 Aug 17.

Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173028
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http://dx.doi.org/10.1016/j.ajhg.2017.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590842PMC
September 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

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.

Eur J Med Genet 2015 Sep 15;58(9):479-87. Epub 2015 Jul 15.

Laboratoire de Génétique Médicale INSERM U1112, Institut de Génétique Médicale d'Alsace (IGMA), Faculté de Médecine de Strasbourg, Université De Strasbourg, Strasbourg, France; Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Hôpitaux Universitaires de Strasbourg, Strasbourg, France; Service de Génétique Médicale, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2015.07.004DOI Listing
September 2015

Epileptic encephalopathy with continuous spike-waves during sleep: the need for transition from childhood to adulthood medical care appears to be related to etiology.

Epilepsia 2014 Aug;55 Suppl 3:21-3

Pediatric Neurology, Department of Pediatrics, University Hospital of Strasbourg, Strasbourg, France; Referent Center for Rare Epilepsies, Associated, Strasbourg, France.

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http://dx.doi.org/10.1111/epi.12724DOI Listing
August 2014

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

Am J Hum Genet 2014 Jul;95(1):113-20

Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université de Bourgogne, 21079 Dijon, France; Laboratoire de Génétique Moléculaire, Plateau Technique de Biologie, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.06.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4085634PMC
July 2014

[Epilepsy in the child and in the adult. Part 1. Epilepsy in the child].

Rev Prat 2014 May;64(5):701-5

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May 2014

A pediatric case of Fisher-Bickerstaff spectrum.

Pediatr Neurol 2010 Feb;42(2):147-50

Pediatric Transportation Team SAMU 93, Avicenne University Hospital, Bobigny, France.

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http://dx.doi.org/10.1016/j.pediatrneurol.2009.09.009DOI Listing
February 2010

Impairment of cerebello-thalamo-frontal pathway in Rab-GDI mutated patients with pure mental deficiency.

Eur J Med Genet 2009 Jan-Feb;52(1):6-13. Epub 2008 Sep 25.

Institut des Sciences Cognitives, CNRS UMR5230, Université Claude Bernard Lyon 1 and Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1016/j.ejmg.2008.09.003DOI Listing
April 2009

Metabolic evidence for remote inhibition in epilepsies with continuous spike-waves during sleep.

Neuroimage 2008 Apr 8;40(2):802-810. Epub 2007 Dec 8.

Department of Pediatric Neurology, ULB-Hôpital Erasme, Brussels, Belgium.

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http://dx.doi.org/10.1016/j.neuroimage.2007.11.043DOI Listing
April 2008

Early-onset ophthalmoplegia in Leigh-like syndrome due to NDUFV1 mutations.

Pediatr Neurol 2007 Jan;36(1):54-7

Department of Pediatrics, Strasbourg University Hospital, Strasbourg, France.

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http://dx.doi.org/10.1016/j.pediatrneurol.2006.08.007DOI Listing
January 2007

Congenital hyperekplexia: five sporadic cases.

Eur J Pediatr 2006 Feb 7;165(2):104-7. Epub 2005 Oct 7.

Service de Réanimation Néonatale, Pédiatrie 2, Hôpitaux Universitaires de Strasbourg, 1 avenue Molière, 67098 Strasbourg, France.

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http://link.springer.com/content/pdf/10.1007/s00431-005-0015
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http://link.springer.com/10.1007/s00431-005-0015-x
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http://dx.doi.org/10.1007/s00431-005-0015-xDOI Listing
February 2006

Topiramate: efficacy and tolerability in children according to epilepsy syndromes.

Epilepsy Res 2003 Mar;53(3):225-32

Neuropediatric Department, Cochin-Saint-Vincent de Paul University Hospital, 82 Bd Denfert-Rochereau, 75014 Paris, France.

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http://dx.doi.org/10.1016/s0920-1211(03)00028-7DOI Listing
March 2003

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.

Am J Med Genet 2002 May;109(3):211-7

Fédération de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

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http://dx.doi.org/10.1002/ajmg.10348DOI Listing
May 2002