Publications by authors named "Mathieu Milh"

86Publications

Relationship between PET metabolism and SEEG epileptogenicity in focal lesional epilepsy.

Eur J Nucl Med Mol Imaging 2020 May 20. Epub 2020 May 20.

APHM, Timone Hospital, Nuclear Medicine Department, Marseille, France.

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http://dx.doi.org/10.1007/s00259-020-04791-1DOI Listing
May 2020

Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.

Neurology 2020 03 2;94(13):e1378-e1385. Epub 2020 Mar 2.

From Sleep Disorders and Functional Neurology (E.P., A.A.), Department of Paediatric Clinical Epileptology, University Hospitals of Lyon, member of the ERN EpiCARE; Service de Neurologie Pédiatrique (D.D., T.B.), Hôpital Trousseau, APHP, Paris; Centre d'Investigation Clinique (E.N., N.N.), CHU Montpellier; Department of Medical Genetics (G.L.), Centre de Biologie Est, Lyon University Hospital, Hospices Civils de Lyon, member of the ERN EpiCARE; Laboratoire de Génétique (F.R.), Groupe Hospitalier Lariboisière-Fernand Widal AP-HP, Paris; IGF (S.N.), Univ Montpellier, CNRS, INSERM; Département de Neuropédiatrie (C.D., A.R.), CHU Gui de Chauliac, Montpellier; Service de Neuropédiatrie et Handicaps (M.A.B.), Hôpital Gatien de Clocheville, CHU Tours, France; Pediatric Neurology Unit (M.C.N.), Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium; Service de Neuropédiatrie (A.D.), CHU de Bicêtre, Kremlin-Bicêtre; Service de Neuropédiatrie (L.V.), CHU Lille; Service de Neurochirurgie Pédiatrique (M.B.), Hôpital Necker-Enfants Malades, APHP, Paris; Service de Neurologie Pédiatrique (C.I.), Hôpital Raymond Poincarré, AP-HP, Garches; Service de Neurophysiologie (C.G.), Hôpital Necker, AP-HP, Paris; Département de Pédiatrie (C.L.), CHU Limoges; Service de Neurologie Pédiatrique (M.M.), CHU Timone Enfants, Marseille; Centre de Référence "Déficiences Intellectuelles de Causes Rares" (V.D.P.), Hôpital Femme Mère Enfant, Hospices Civils de Lyon, Bron, Université de Lyon; and INSERM U 1051 (A.R.), Institut des Neurosciences de Montpellier, France.

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http://dx.doi.org/10.1212/WNL.0000000000009175DOI Listing
March 2020

Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.

Neurol Genet 2019 Dec 25;5(6):e363. Epub 2019 Oct 25.

Service de Génétique (G.B., J.-P.B., S.G.-L.), Groupe Hospitalier Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM U1163 (G.B., N.B-.B., R.N.), Université Paris Descartes, PRES Sorbonne Paris Cité, Paris, France; Service de Neurologie Pédiatrique (N.C., N.B-.B., A.K., R.N.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Centre de Référence des Epilepsies Rares (N.C., A.K., R.N.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; INSERM U1129 (N.N., A.K., R.N.), Paris, France; Service de Neurophysiologie Clinique et Pédiatrie (M.K.), INSERM U1099, Hôpital Universitaire de Rennes, Université de Rennes, France; Service de Neurophysiologie Clinique (M.E., A.K.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Génétique Clinique (V.C.), Hôpital Femme Mère Enfant, Metz-Thionville, France; Pediatric Neurology Research Group (A.M.), Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain; Service de Génétique Clinique (L.L.), Hôpital d'Enfants, CHU de Nancy, Vandoeuvre-Lès-Nancy, France; Service de Pédiatrie (F.D.), CHU de Grenoble, France; Service de Neurologie Pédiatrique (D.D., T.B.V.), Hôpital Trousseau, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Neurologie Pédiatrique (N.V., M.M.), APHM, Hôpital d'Enfants de La Timone, Marseille, France; Service de Neurologie Pédiatrique (M-.A.B., M.M.), Centre Hospitalier Universitaire de Tours, Tours, France; Département de Génétique (C.N., M.M.), Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France; Service de Radiologie Pédiatrique (N.B., M.M.), Hôpital Necker Enfants Malades, Assistance Publique-Hôpitaux de Paris, Paris, France; Université Aix-Marseille (M.M.), INSERM, MMG, UMR-S 1251, Faculté de Médecine, Marseille, France; and Unité de Neurologie Pédiatrique (S.A.), Hôpital Rober Debré, Assistance Publique-Hôpitaux de Paris, Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878841PMC
December 2019

Screening for depression in youth with epilepsy: Psychometric analysis of NDDI-E-Y and NDDI-E in a French population.

Epilepsy Behav 2019 09 9;98(Pt A):19-26. Epub 2019 Jul 9.

Centre de Référence Epilepsies Rares de Marseille, France; Aix Marseille Univ, Inserm, INS, Institut de Neurosciences des Systèmes, Marseille, France; Service de Neurophysiologie Clinique, CHU Timone, APHM, 13005 Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2019.06.012DOI Listing
September 2019

The repertoire of seizure onset patterns in human focal epilepsies: Determinants and prognostic values.

Epilepsia 2019 01 13;60(1):85-95. Epub 2018 Nov 13.

Epileptology Department, National Institute of Health and Medical Research, Institute of System Neuroscience, Timone Hospital, Public Assistance Hospitals of Marseille, Aix-Marseille University, Marseille, France.

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http://doi.wiley.com/10.1111/epi.14604
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http://dx.doi.org/10.1111/epi.14604DOI Listing
January 2019

Screening for depression in youth with epilepsy: The NDDI-E-Y.

Epilepsia 2018 10;59(10):1999-2000

Aix-Marseille University, INSERM, INS, Inst Neurosci Syst, Marseille, France.

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http://doi.wiley.com/10.1111/epi.14545
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http://dx.doi.org/10.1111/epi.14545DOI Listing
October 2018

Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 Aug;21(8):1897-1898

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0327-7DOI Listing
August 2019

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Genet Med 2019 04 12;21(4):837-849. Epub 2018 Sep 12.

INSERM, U 1127, CNRS UMR 7225, Sorbonne Universites, UPMC Univ Paris 06 UMR S 1127, Institut du Cerveau et de la Moelle epiniere, ICM, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0268-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6752297PMC
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:

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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

The role of stereoelectroencephalography (SEEG) in reevaluation of epilepsy surgery failures.

Epilepsy Behav 2018 04 8;81:86-93. Epub 2018 Mar 8.

APHM, Timone Hospital, Clinical Neurophysiology and Epileptology Department, Marseille, France; Aix Marseille Univ, Inserm, INS, Institut de Neurosciences des Systèmes, Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2018.02.005DOI Listing
April 2018

Urinary retention associated with aripiprazole: Report of a new case and review of the literature.

Therapie 2018 May - Jun;73(3):287-289. Epub 2017 Oct 23.

Service de neurologie pédiatrique, hôpital de la Timone, Assistance publique-hôpitaux de Marseille, 13005 Marseille, France; Inserm UMR_S910, Aix-Marseille université, 13005 Marseille, France.

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http://dx.doi.org/10.1016/j.therap.2017.09.001DOI Listing
September 2018

A possible link between KCNQ2- and STXBP1-related encephalopathies: STXBP1 reduces the inhibitory impact of syntaxin-1A on M current.

Epilepsia 2017 12 25;58(12):2073-2084. Epub 2017 Oct 25.

INSERM UMR_S901, Mediterranean Neurobiology Institute (INMED), Aix-Marseille University, Marseille, France.

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http://dx.doi.org/10.1111/epi.13927DOI Listing
December 2017

Early patterns of activity in the developing cortex: Focus on the sensorimotor system.

Semin Cell Dev Biol 2018 04 9;76:120-129. Epub 2017 Sep 9.

Hôpital de la Timone, Marseille, 13009, France.

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http://dx.doi.org/10.1016/j.semcdb.2017.09.014DOI Listing
April 2018

FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease.

Am J Med Genet A 2017 Sep 28;173(9):2489-2493. Epub 2017 Jun 28.

Faculté de Médecine, Inserm, GMGF, UMR_S910, Aix Marseille Université, Marseille, France.

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http://dx.doi.org/10.1002/ajmg.a.38331DOI Listing
September 2017

Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration.

Eur J Paediatr Neurol 2017 Sep 29;21(5):783-786. Epub 2017 Apr 29.

APHM, Department of Pediatric Neurology, Hopital de la Timone, Marseille, France; AIx Marseille univ, INSERM, GMGF, UMR_S 910, Faculté de médecine, Marseille, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.04.001DOI Listing
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.

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

A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity.

Epilepsia 2016 05 31;57(5):e87-93. Epub 2016 Mar 31.

Mediterranean Neurobiology Institute INMED, Aix-Marseille University, Marseille, France.

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http://dx.doi.org/10.1111/epi.13366DOI Listing
May 2016

Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.

Brain Dev 2016 May 10;38(5):498-506. Epub 2015 Dec 10.

Department of Neuropaediatrics, Timone Hospital, Marseille Teaching Hospital, France.

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http://dx.doi.org/10.1016/j.braindev.2015.11.006DOI Listing
May 2016

Variable clinical expression in patients with mosaicism for KCNQ2 mutations.

Am J Med Genet A 2015 Oct 10;167A(10):2314-8. Epub 2015 May 10.

Inserm, UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Marseille, France.

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http://dx.doi.org/10.1002/ajmg.a.37152DOI Listing
October 2015

GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia.

Neurology 2015 Apr 3;84(17):1751-9. Epub 2015 Apr 3.

From Institut du Cerveau et de la Moelle épinière (M.C., A.B., G.S., A.D.), ICM, Paris; CNRS (M.C., A.B., G.S., A.D.), UMR 7225, Paris; Sorbonne Universités (M.C., A.B., G.S., A.D.), UPMC Univ Paris 06, UMRS_1127, Paris; INSERM (M.C., E.M., A.B., G.S., A.D.), U 1127, Paris, France; Laboratory of Human Molecular Genetics (M.C.), de Duve Institute, Université catholique de Louvain, Brussels, Belgium; Laboratoire de Neurogénétique (M.C., G.S.), Ecole Pratique des Hautes Etudes, ICM, GHU Pitié-Salpêtrière, Paris; Centre de Référence Malformations et Maladies Congénitales du Cervelet (L.B., D.R., S.C.-B., C.R., A.A.), Paris-Lyon-Lille; INSERM U1141 (L.B., D.R.), Paris; APHP (L.B., S.C.-B.), Armand-Trousseau Hospital, Department of Genetics, Paris, France; Service de Neurologie (M.A.-B.), CHU Bab el Oued, Alger, Algeria; APHP (D.R., A.A.), Armand-Trousseau Hospital, Department of Neuropediatrics, UPMC Univ Paris 06; Hospices Civils de Lyon (C.R.), HFME, Service de Neuropédiatrie, Bron; Centre Hospitalier du Pays d'Aix (M.-A.C.), Service de Pédiatrie, Aix en Provence; APHM (M.M.), Service de neurologie pédiatrique, Hôpital de la Timone, Marseille; Service de Génétique (A.T.), Hôpital Bretonneau, Centre Hospitalier Universitaire, Tours; Centre National de Génotypage (D.B., V.M., J.-F.D.), Institut de Génomique, CEA, Evry; APHP (A.B., D.H., A.D.), Department of Genetics and Cytogenetics, Groupe Hospitalier Pitié-Salpêtrière, Paris; Centre de Référence Déficiences Intellectuelles de causes rares (D.H.), Paris; and Groupe de Recherche Clinique déficiences intellectuelles (D.H.), UPMC Univ Paris 06, France.

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http://dx.doi.org/10.1212/WNL.0000000000001524DOI Listing
April 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

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

Cortical involvement in focal epilepsies with epileptic spasms.

Epilepsy Res 2014 Nov 30;108(9):1572-80. Epub 2014 Aug 30.

Hôpital Henri Gastaut, Marseille, France; Service de Neurophysiologie Clinique, Assistance Publique des Hôpitaux de Marseille, Marseille F-13005, France. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2014.08.008DOI Listing
November 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

Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome.

Epilepsy Behav 2014 Feb 8;31:143-8. Epub 2014 Jan 8.

APHM, Service de neurologie pédiatrique, Hôpital de la Timone, 13005 Marseille, France; INSERM, UMR 910, Aix-Marseille Université, 13005 Marseille, France.

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http://dx.doi.org/10.1016/j.yebeh.2013.11.021DOI Listing
February 2014

Auditory stimuli mimicking ambient sounds drive temporal "delta-brushes" in premature infants.

PLoS One 2013 11;8(11):e79028. Epub 2013 Nov 11.

Inserm, U663, Paris, France; University Paris-Descartes, Paris, France ; CEA, Neurospin, Gif-sur-Yvette, France ; Department of Pediatric Neurosurgery, Fondation Ophtalmologique A. de Rothschild, Paris, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0079028PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3823968PMC
August 2014

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

Eur J Med Genet 2014 Jan 1;57(1):15-20. Epub 2013 Nov 1.

Department of Neuropediatrics, Centre de Reference des Epilepsies Rares, Hopital Necker Enfants Malades, Paris Descartes University, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.10.006DOI Listing
January 2014

Diagnosis and outcome of SCN4A-related severe neonatal episodic laryngospasm (SNEL): 2 new cases.

Pediatrics 2013 Sep 19;132(3):e784-7. Epub 2013 Aug 19.

Service de Neuropédiatrie, Hôpital Timone Enfants, Marseille, France.

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http://dx.doi.org/10.1542/peds.2012-3065DOI Listing
September 2013

Brain maturation and epilepsy.

Handb Clin Neurol 2013 ;111:441-6

Department of Pediatric Neurology, Hôpital Necker-Enfants Malades, UMR663, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-52891-9.00047-6DOI Listing
April 2014

Mosaic 15q13.3 deletion including CHRNA7 gene in monozygotic twins.

Eur J Med Genet 2013 May 27;56(5):274-7. Epub 2013 Feb 27.

Laboratoire de Génétique Chromosomique, Département de Génétique Médicale, Hôpital Timone - Enfants, Assistance Publique - Hôpitaux de Marseille, Marseille, France.

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http://dx.doi.org/10.1016/j.ejmg.2013.02.005DOI Listing
May 2013

[Epilepsy in children: when is genetics useful?].

Authors:
Mathieu Milh

Rev Prat 2012 Dec;62(10):1386-7

Service de neuropédiatrie, hôpital de La Timone, Inserm U910, 13385 Marseille Cedex 5, France.

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December 2012

[Brain maturation and epilepsy].

Rev Prat 2012 Dec;62(10):1371-7

Service de neuropédiatrie, hôpital Necker, AP-HP, 75015 Paris, France.

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December 2012

Life-saving decompressive craniectomy for acute disseminated encephalomyelitis in a child: a case report.

Childs Nerv Syst 2012 Jul 8;28(7):1121-4. Epub 2012 Mar 8.

Department of Pediatric Neurosurgery, CHU Timone Enfants, Marseille, France.

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http://dx.doi.org/10.1007/s00381-012-1733-9DOI Listing
July 2012

Atypical pyridoxine-dependent epilepsy due to a pseudoexon in ALDH7A1.

Mol Genet Metab 2012 Apr 20;105(4):684-6. Epub 2012 Jan 20.

INSERM, U910, Aix-Marseille Université, Marseille, France.

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http://dx.doi.org/10.1016/j.ymgme.2012.01.011DOI Listing
April 2012

New onset refractory convulsive status epilepticus associated with serum neuropil auto-antibodies in a school aged child.

Brain Dev 2011 Sep 13;33(8):687-91. Epub 2010 Nov 13.

Department of Paediatric Neurology, AP-HM, Hôpital Timone, Université de la Méditerranée, 13005 Marseille, France.

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http://dx.doi.org/10.1016/j.braindev.2010.10.020DOI Listing
September 2011

Posterior glucose hypometabolism in Lafora disease: early and late FDG-PET assessment.

Epilepsia 2010 Apr 12;51(4):708-11. Epub 2010 Feb 12.

Service de Neurologie, Centre Hospitalier Universitaire de Nancy, Nancy, France.

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http://dx.doi.org/10.1111/j.1528-1167.2009.02498.xDOI Listing
April 2010

[Epilepsy in the child].

Rev Prat 2009 May;59(5):689-93

Service de neurologie pédiatrique, Hôpital d'enfants, CHU La Timone, 13385 Marseille Cedex, France.

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May 2009

Inhibition of glutamate transporters results in a "suppression-burst" pattern and partial seizures in the newborn rat.

Epilepsia 2007 Jan;48(1):169-74

INMED/INSERM U29, Université de la Mediterranée, Marseille, France.

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http://dx.doi.org/10.1111/j.1528-1167.2006.00839.xDOI Listing
January 2007

Cell domain-dependent changes in the glutamatergic and GABAergic drives during epileptogenesis in the rat CA1 region.

J Physiol 2007 Jan 28;578(Pt 1):193-211. Epub 2006 Sep 28.

INMED-INSERM U29-Université de la Méditerranée, 163 Route de Luminy BP13, 13273 Marseille Cedex 09, France.

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http://dx.doi.org/10.1113/jphysiol.2006.119297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2075107PMC
January 2007

Rapid cortical oscillations and early motor activity in premature human neonate.

Cereb Cortex 2007 Jul 1;17(7):1582-94. Epub 2006 Sep 1.

INMED/INSERM U29, Université de la Méditerranée, Marseille, France.

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https://academic.oup.com/cercor/article-lookup/doi/10.1093/c
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http://dx.doi.org/10.1093/cercor/bhl069DOI Listing
July 2007

Werner mesomelic dysplasia with Hirschsprung disease.

Am J Med Genet A 2003 Dec;123A(2):186-9

Department of Medical Genetics, Necker-Enfants-Malades Hospital, 149 rue de Sèvres, 75043 Paris cedex 15, France.

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http://dx.doi.org/10.1002/ajmg.a.20285DOI Listing
December 2003