Pierre Szepetowski

Pierre Szepetowski

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Pierre Szepetowski

Pierre Szepetowski

Publications by authors named "Pierre Szepetowski"

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Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations.

Epileptic Disord 2019 Jun;21(S1):41-47

Aix-Marseille University, INSERM UMR1249, INMED, Marseille, France.

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http://dx.doi.org/10.1684/epd.2019.1056DOI Listing
June 2019

Magnetofection™ of NMDA Receptor Subunits GluN1 and GluN2A Expression Vectors in Non-Neuronal Host Cells.

Methods Mol Biol 2017 ;1677:129-135

INSERM U901, Mediterranean Institute of Neurobiology (INMED), Aix-Marseille University, Marseille, France.

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http://dx.doi.org/10.1007/978-1-4939-7321-7_5DOI Listing
June 2018

Genetics of human epilepsies: Continuing progress.

Presse Med 2018 Mar 23;47(3):218-226. Epub 2017 Dec 23.

Mediterranean Institute of Neurobiology (INMED), Inserm U901, parc scientifique de Luminy, BP 13, 13273 Marseille cedex 09, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S07554982173047
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http://dx.doi.org/10.1016/j.lpm.2017.10.020DOI Listing
March 2018

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.

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

NMDA receptor subunit mutations in neurodevelopmental disorders.

Curr Opin Pharmacol 2015 Feb 11;20:73-82. Epub 2014 Dec 11.

INSERM UMR_S901, Marseille, France; Mediterranean Institute of Neurobiology (INMED), Marseille, France; Aix-Marseille University, Marseille, France; French Epilepsy, Language and Development (EPILAND) Network, France. Electronic address:

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http://dx.doi.org/10.1016/j.coph.2014.11.008DOI Listing
February 2015

Heterogeneous pattern of selective pressure for PRRT2 in human populations, but no association with autism spectrum disorders.

PLoS One 2014 3;9(3):e88600. Epub 2014 Mar 3.

Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France; CNRS URA 2182 'Genes, synapses and cognition', Institut Pasteur, Paris, France; University Denis Diderot Paris 7, Paris, France; Fondation FondaMental, Créteil, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0088600PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3940422PMC
January 2015

An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.

Epilepsia 2013 Sep 12;54(9):e117-21. Epub 2013 Jun 12.

Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.

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http://dx.doi.org/10.1111/epi.12241DOI Listing
September 2013

A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene.

Hum Mol Genet 2010 Dec 28;19(24):4895-905. Epub 2010 Sep 28.

Institute of Biology of Development of Marseille Luminy, CNRS UMR 6126, INSERM U901, Parc Scientifique de Luminy, BP 13, 13273 Marseille Cedex 09, France.

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http://dx.doi.org/10.1093/hmg/ddq424DOI Listing
December 2010

Sushi repeat protein X-linked 2, a novel mediator of angiogenesis.

FASEB J 2009 Dec 10;23(12):4105-16. Epub 2009 Aug 10.

Department of Pathology and Immunology, Centre Médical Universitaire, Rue Michel-Servet 1, CH-1211 Geneva 4, Switzerland.

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http://dx.doi.org/10.1096/fj.09-135202DOI Listing
December 2009

From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors.

Epilepsia 2009 Aug;50 Suppl 7:25-8

Service de Neurologie, Hôpitaux Universitaires de Strasbourg, 1 place de l'Hôpital BP 426, Strasbourg cedex, France.

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http://dx.doi.org/10.1111/j.1528-1167.2009.02214.xDOI Listing
August 2009

Epilepsy and ionic channels.

Epileptic Disord 2002 Sep;4(3):165-72

INSERM U 491, Faculté de Médecine de la Timone, Marseille, France.

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September 2002

Benign familial infantile seizures: further delineation of the syndrome.

J Child Neurol 2002 Sep;17(9):696-9

Servicio de Neurologia, Hospital Nacional de Pediatria Profesor Juan P. Garrahan, Buenos Aires, Argentina.

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http://dx.doi.org/10.1177/088307380201700909DOI Listing
September 2002