Publications by authors named "Eric Leguern"

98Publications

Plasma progranulin levels for frontotemporal dementia in clinical practice: a 10-year French experience.

Neurobiol Aging 2020 07 21;91:167.e1-167.e9. Epub 2020 Feb 21.

Sorbonne Université, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière (ICM), AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de Référence des Démences Rares ou Précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Institut du Cerveau et de la Moelle épinière (ICM), FrontLab, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2020.02.014DOI Listing
July 2020

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Nat Commun 2019 10 29;10(1):4920. Epub 2019 Oct 29.

Adelaide Medical School and Robinson Research Institute, University of Adelaide, Adelaide, 5005, SA, Australia.

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http://dx.doi.org/10.1038/s41467-019-12671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6820779PMC
October 2019

Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease.

Epileptic Disord 2019 Aug;21(4):359-365

Razi Hospital, Department of Neurology, LR 18SP03, Tunis, Université de Tunis El Manar, Faculté de Médecine de Tunis, Tunis, Tunisia.

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http://dx.doi.org/10.1684/epd.2019.1078DOI Listing
August 2019

The missense p.Trp7Arg mutation in GRN gene leads to progranulin haploinsufficiency.

Neurobiol Aging 2020 01 10;85:154.e9-154.e11. Epub 2019 Jun 10.

Sorbonne Universités, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière (ICM), AP-HP - Hôpital Pitié-Salpêtrière, Paris, France; Centre de référence des démences rares ou précoces, IM2A, Département de Neurologie, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.06.002DOI Listing
January 2020

Relations between C9orf72 expansion size in blood, age at onset, age at collection and transmission across generations in patients and presymptomatic carriers.

Neurobiol Aging 2019 02 19;74:234.e1-234.e8. Epub 2018 Sep 19.

Assistance Publique - Hôpitaux de Paris, Hôpital Pitié-Salpêtrière, Paris, France; Sorbonne Universités, UPMC Univ Paris 06, Inserm U1127, CNRS UMR 7225, Institut du Cerveau et la Moelle épinière ICM, Hôpital Pitié-Salpêtrière, Paris, France; National Reference Center for Rare or Early Dementias, Institute of Memory and Alzheimer's Disease IM2A, Department of Neurology, AP-HP - Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S01974580183033
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http://dx.doi.org/10.1016/j.neurobiolaging.2018.09.010DOI Listing
February 2019

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

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Authors:
Patrick May Simon Girard Merle Harrer Dheeraj R Bobbili Julian Schubert Stefan Wolking Felicitas Becker Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina E Niturad Julia Knaus Carolien De Kovel Mohamad Toliat Anne Polvi Michele Iacomino Rosa Guerrero-López Stéphanie Baulac Carla Marini Holger Thiele Janine Altmüller Kamel Jabbari Ann-Kathrin Ruppert Wiktor Jurkowski Dennis Lal Raffaella Rusconi Sandrine Cestèle Benedetta Terragni Ian D Coombs Christopher A Reid Pasquale Striano Hande Caglayan Auli Siren Kate Everett Rikke S Møller Helle Hjalgrim Hiltrud Muhle Ingo Helbig Wolfram S Kunz Yvonne G Weber Sarah Weckhuysen Peter De Jonghe Sanjay M Sisodiya Rima Nabbout Silvana Franceschetti Antonietta Coppola Maria S Vari Dorothée Kasteleijn-Nolst Trenité Betul Baykan Ugur Ozbek Nerses Bebek Karl M Klein Felix Rosenow Dang K Nguyen François Dubeau Lionel Carmant Anne Lortie Richard Desbiens Jean-François Clément Cécile Cieuta-Walti Graeme J Sills Pauls Auce Ben Francis Michael R Johnson Anthony G Marson Bianca Berghuis Josemir W Sander Andreja Avbersek Mark McCormack Gianpiero L Cavalleri Norman Delanty Chantal Depondt Martin Krenn Fritz Zimprich Sarah Peter Marina Nikanorova Robert Kraaij Jeroen van Rooij Rudi Balling M Arfan Ikram André G Uitterlinden Giuliano Avanzini Stephanie Schorge Steven Petrou Massimo Mantegazza Thomas Sander Eric LeGuern Jose M Serratosa Bobby P C Koeleman Aarno Palotie Anna-Elina Lehesjoki Michael Nothnagel Peter Nürnberg Snezana Maljevic Federico Zara Patrick Cossette Roland Krause Holger Lerche

Lancet Neurol 2018 08 17;17(8):699-708. Epub 2018 Jul 17.

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http://dx.doi.org/10.1016/S1474-4422(18)30215-1DOI Listing
August 2018

Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.

Neurogenetics 2018 08 12;19(3):165-178. Epub 2018 Jun 12.

UPMC Univ Paris 06, Inserm, CNRS, APHP, Institut du Cerveau et la Moelle (ICM), Hôpital Pitié-Salpêtrière, Sorbonne Universités, Paris, France.

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http://dx.doi.org/10.1007/s10048-018-0550-zDOI Listing
August 2018

Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.

Ann Clin Transl Neurol 2018 May 6;5(5):510-523. Epub 2018 Apr 6.

Sorbonne Universités Paris VI UMR CNRS 1127 UPMC INSERM U 1127 CNRS UMR 7225 Institut du Cerveau et de la Moelle épinière - ICM Paris France.

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http://dx.doi.org/10.1002/acn3.542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945968PMC
May 2018

Germline and somatic mutations in the gene in focal cortical dysplasia and epilepsy.

Neurol Genet 2016 Dec 31;2(6):e118. Epub 2016 Oct 31.

The Danish Epilepsy Centre Filadelfia (R.S.M., G.R.), Dianalund, Denmark; Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense; Sorbonne Universités (S.W., E.M., V.L., E.L., S.B.), UPMC Univ Paris 06 UMR S 1127, Inserm U1127, CNRS UMR 7225, AP-HP, Institut du cerveau et la moelle (ICM)-Hôpital Pitié-Salpêtrière, Paris, France; Epilepsy Unit (S.W., V.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris, France; Neurogenetics Group (S.W.), VIB-Department of Molecular Genetics; Laboratory of Neurogenetics (S.W.), Institute Born-Bunge, University of Antwerp, Belgium; Department of Neurology (S.W.), University Hospital Antwerp, Belgium; Department of Pediatric Neurosurgery (M.C., S.F.-S., G.D.), Fondation Rothschild, Paris, France; Université Paris Sorbonne Cité (V.T.), INSERM UMR-S1147 MEPPOT, CNRS SNC5014, Centre Universitaire des Saints-Pères, Paris, France; Department of Neurology (E.M.B.), University of Alabama at Birmingham; HudsonAlpha Institute for Biotechnology (S.M.H., J.W.P., K.M.B., G.M.C.), Huntsville, AL; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (D.M., V.C., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy; Genosplice (P.d.l.G.), Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Amplexa Genetics (L.H.G.L.), Odense, Denmark; Department of Genetics and Cytogenetics (E.L., S.B.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris, France; and University of Copenhagen (G.R.), Denmark.

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http://dx.doi.org/10.1212/NXG.0000000000000118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5089441PMC
December 2016

Novel GABRG2 mutations cause familial febrile seizures.

Neurol Genet 2015 Dec 4;1(4):e35. Epub 2015 Nov 4.

Sorbonne Universités (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), UPMC Univ Paris 06, UM 75, ICM; INSERM, U1127 (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), ICM; CNRS (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), UMR 7225, ICM; ICM (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), Paris, France; Department of Neurology (F.P.), University Hospitals of Geneva (HUG), Switzerland; Centre de Reference Épilepsies Rares, Epilepsy Unit (S.W., M.B., V.L., I.A.-G.), and Département de Génétique et de Cytogénétique (E.L.), AP-HP Groupe Hospitalier Pitié-Salpêtrière, Paris, France; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova (C.M., P.S.), and Laboratory of Neurogenetics, Department of Neurosciences (F.Z., M.I.), "G. Gaslini" Institute, Genova, Italy; Neurogenetics Group, VIB-Department of Molecular Genetics (K.H.), and Laboratory of Neurogenetics, Institute Born-Bunge (K.H.), University of Antwerp, Belgium; Centre de Reference Épilepsies Rares (O.D., R.N.), Department of Pediatric Neurology, Necker Enfants Malades Hospital, AP-HP, Paris; INSERM (O.D., R.N.), U1129, Necker, Paris, France; and University Paris Descartes (O.D., R.N.), Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811385PMC
December 2015

LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development.

Sci Rep 2016 Feb 16;6:21769. Epub 2016 Feb 16.

Neuroglial Interactions in Cerebral Physiopathology, Center for Interdisciplinary Research in Biology, Collège de France, CNRS UMR 7241, INSERM U1050, Labex Memolife, PSL Research University, F-75005 Paris, France.

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http://dx.doi.org/10.1038/srep21769DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754946PMC
February 2016

Depdc5 knockout rat: A novel model of mTORopathy.

Neurobiol Dis 2016 May 9;89:180-9. Epub 2016 Feb 9.

INSERM, U1127, ICM, F-75013 Paris, France; CNRS, UMR 7225, ICM, F-75013 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, F-75013 Paris, France; Department of Genetics, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2016.02.010DOI Listing
May 2016

TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts.

Neurobiol Aging 2015 Nov 14;36(11):3116.e5-3116.e8. Epub 2015 Aug 14.

Institut du Cerveau et de la Moelle épinière (ICM), INSERM U1127, CNRS UMR 7225, Sorbonne Universités, Université Pierre et Marie Curie, Univ Paris 06, UPMC-P6 UMR S 1127 Hôpital de la Pitié-Salpêtrière, Paris, France; Département des Maladies du Système Nerveux, AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France; Département de Génétique et Cytogénétique, Unité Fonctionnelle de Génétique Clinique, AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2015.08.009DOI Listing
November 2015

Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.

Ann Neurol 2015 Apr 13;77(4):675-83. Epub 2015 Mar 13.

Sorbonne Universités, Pierre and Marie Curie University, UPMC Univ Paris 06, UM 75, ICM, Paris, France; National Institute of Health and Medical Research, INSERM U1127, ICM, Paris, France; National Center for Scientific Research, CNRS, UMR 7225, ICM, Paris, France; Brain and Spine Institute, Institut du Cerveau et de la Moelle (ICM), Paris, France.

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http://dx.doi.org/10.1002/ana.24368DOI Listing
April 2015

Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures.

Brain 2014 Nov 17;137(Pt 11):2984-96. Epub 2014 Sep 17.

1 INSERM, U 1127, F-75013, Paris, France 2 CNRS, UMR 7225, F-75013, Paris, France 3 Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, ICM, F-75013 Paris, France 4 Institut du Cerveau et de la Moelle épinière (ICM), F-75013, Paris, France

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http://dx.doi.org/10.1093/brain/awu259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4208469PMC
November 2014

Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients.

Neurobiol Aging 2014 Dec 18;35(12):2882.e13-2882.e15. Epub 2014 Jul 18.

Institut du Cerveau et de la Moelle épinière (ICM), CNRS UMR 7225, Inserm U 1127, Sorbonne Universités, Université Pierre et Marie, Univ Paris 06, UPMC-P6 UMR S 1127 - Hôpital Pitié-Salpêtrière, Paris, France; Centre de Référence des Démences Rares, AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France; Département de Neurologie, AP-HP, Hôpital de la Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.neurobiolaging.2014.07.016DOI Listing
December 2014

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.

Neurology 2014 Sep 6;83(11):990-5. Epub 2014 Aug 6.

From the Institut du Cerveau et de la Moelle épinière (ICM) (S.L., S.M., G.S., S.R.-P., C.M., A.C., S.D., E.M., P.C., A.B., I.L., E.K.), Sorbonne Université, UPMC Univ Paris 06, UM75, Inserm U1127, Cnrs UMR7225, F-75013, Paris; Ecole Pratique des Hautes Etudes, Laboratoire de Neurogénétique, ICM (G.S.), HéSam Université, GHU Pitié-Salpêtrière, F-75013, Paris; Fédération des Maladies du Système Nerveux, Centre de référence maladies rares SLA (F.S., V.M.), Département de Neuropathologie (D.S.), Department of Neurology (A.-M.B.), Unité Fonctionnelle de neurogénétique moléculaire et cellulaire (E.L.), Département de Génétique et Cytogénétique (A.B.), and Centre de référence Démences Rares (I.L.), AP-HP, Hôpital Pitié-Salpêtrière, F-75013, Paris; Inserm U1079 (D.H.), Rouen; Centre mémoire (F.P.), Université Lille Nord de France, EA1046, CHU, Lille; Neuroépidémiologie Tropicale (P.C.), Université de Limoges INSERM UMR1094, Limoges; Service de Neurologie et Pathologie du Mouvement (V.D.-B.), Hôpital Roger Salengro, CHRU Lille; and Service de neurologie (C.T.), Hôpital de Hautepierre, CHU de Strasbourg, 1 Avenue Molière, Strasbourg, France.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000077
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http://dx.doi.org/10.1212/WNL.0000000000000778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4162303PMC
September 2014

Charcot-Marie-Tooth disease type 2A: from typical to rare phenotypic and genotypic features.

JAMA Neurol 2014 Aug;71(8):1036-42

Département de Génétique et de Cytogénétique, GH Pitié-Salpêtrière, AP-HP, Paris, France7Institut National de la Santé et de la Recherche Médicale U 1127, Institut du Cerveau et de la Moelle Epiniere, Hôpital Pitié-Salpêtrière, Paris, France8Université Pi.

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http://dx.doi.org/10.1001/jamaneurol.2014.629DOI Listing
August 2014

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.

Neurology 2014 Jun 9;82(23):2101-6. Epub 2014 May 9.

From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge

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http://dx.doi.org/10.1212/WNL.0000000000000488DOI Listing
June 2014

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

Neurology 2014 Mar 5;82(12):1068-75. Epub 2014 Mar 5.

From INSERM (S.B., B.D., B.O.A.B., P.C., J.R., E.N., K.H.E.H., E.L.), U1127; Sorbonne Universités, UPMC Univ Paris 06 (S.B., B.D., B.O.A.B., P.C., J.R., E.N., K.H.E.H., E.L.), UM 75; CNRS (S.B., B.D., B.O.A.B., P.C., J.R., E.N., K.H.E.H., E.L.), UMR 7225, ICM, Paris, ICM, (S.B., B.D., B.O.A.B., P.C., J.R., E.N., K.H.E.H., E.L.) Paris, F-75013 Paris, France; Department of Human Genetics (G.M.L., P.A.L., C.J.F., M.H.M.), University of Michigan, Ann Arbor; Service de Neurophysiologie Clinique (B.O.A.B.), Hôpital des Spécialités, Centre Hospitalier Ibn Sina Rabat, Morocco; Genetics and Pathophysiology of Neurodevelopmental and Neuromuscular Diseases (K.P.), Cochin Institute, Paris; GenoScreen (C.H., S.F.), Lille, France; Neuroscience Department (R.G.), Children's Hospital A. Meyer, University of Florence and IRCCS Stella Maris, Pisa, Italy; Laboratoire de Neurogénétique (K.H.E.H.), Ecole Pratique des Hautes Etudes, Paris; and Département de Génétique et de Cytogénétique (E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000000241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962989PMC
March 2014

Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration.

Neurogenetics 2014 May 28;15(2):95-100. Epub 2014 Jan 28.

Département de Génétique, Cytogénétique et Embryologie, Hôpitaux Universitaires La Pitié Salpêtrière-Charles Foix, Assistance Publique-Hôpitaux de Paris, Paris, France,

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http://dx.doi.org/10.1007/s10048-014-0389-xDOI Listing
May 2014

Genetic analysis of SS18L1 in French amyotrophic lateral sclerosis.

Neurobiol Aging 2014 May 3;35(5):1213.e9-1213.e12. Epub 2013 Dec 3.

Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, INSERM UMR_S975, CNRS UMR7225, Université Pierre et Marie Curie (UPMC)-Paris 6, Hôpital Pitié-Salpêtrière, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.neurobiolaging.2013.11.023DOI Listing
May 2014

Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?

Mol Autism 2013 Dec 1;4(1):47. Epub 2013 Dec 1.

Department of Child and Adolescent Psychiatry, Assistance Publique-Hôpitaux de Paris (AP-HP), Groupe Hospitalier Pitié-Salpêtrière, Université Pierre et Marie Curie, 47 bd de l'Hôpital, 75013 Paris, France.

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http://molecularautism.biomedcentral.com/articles/10.1186/20
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http://dx.doi.org/10.1186/2040-2392-4-47DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4176303PMC
December 2013

Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.

Epilepsy Res 2013 Dec 8;107(3):311-7. Epub 2013 Oct 8.

Department of Paediatrics, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2013.09.008DOI Listing
December 2013

Mutations of DEPDC5 cause autosomal dominant focal epilepsies.

Nat Genet 2013 May 31;45(5):552-5. Epub 2013 Mar 31.

Institut National de la Santé et de la Recherche Médicale (INSERM) U975, Institut du Cerveau et de la Moelle Epinière (ICM), Hôpital Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1038/ng.2601DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010101PMC
May 2013

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology.

Acta Neuropathol 2013 Apr 17;125(4):511-22. Epub 2013 Feb 17.

INSERM UMR_S975, CNRS UMR7225, Université Pierre et Marie Curie-Sorbonne Universités, Hôpital Pitié-Salpêtrière, Paris, France.

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http://link.springer.com/10.1007/s00401-013-1090-0
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http://dx.doi.org/10.1007/s00401-013-1090-0DOI Listing
April 2013

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Hum Mol Genet 2012 Dec 4;21(24):5359-72. Epub 2012 Sep 4.

Institute for Medical Biometry, Informatic and Epidemiology, University of Bonn, Bonn, Germany.

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http://hmg.oxfordjournals.org/content/21/24/5359.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds373
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http://dx.doi.org/10.1093/hmg/dds373DOI Listing
December 2012

Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.

J Peripher Nerv Syst 2012 Mar;17(1):112-22

APHP, Center for reference of neuromuscular diseases Paris-Est, Institut de Myologie, Hôpital de la Pitié-Salpêtrière, 47-83 boulevard de l'hôpital, Paris, France.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00382.xDOI Listing
March 2012

PCDH19-related infantile epileptic encephalopathy: an unusual X-linked inheritance disorder.

Hum Mutat 2012 Apr 14;33(4):627-34. Epub 2012 Feb 14.

INSERM, Centre de Recherche de l'Institut du Cerveau et de la Moelle Épinière (UMRS_975), Hôpital de la Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1002/humu.22029DOI Listing
April 2012

Epilepsy gene LGI1 regulates postnatal developmental remodeling of retinogeniculate synapses.

J Neurosci 2012 Jan;32(3):903-10

Department of Neurology and Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02215, USA.

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http://www.jneurosci.org/cgi/doi/10.1523/JNEUROSCI.5191-11.2
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http://dx.doi.org/10.1523/JNEUROSCI.5191-11.2012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3342858PMC
January 2012

Mutations in UBQLN2 are rare in French amyotrophic lateral sclerosis.

Neurobiol Aging 2012 Apr 9;33(4):839.e1-3. Epub 2011 Dec 9.

Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, INSERM UMR_S975, CNRS UMR7225, Université Pierre et Marie Curie-Paris, Hôpital Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.neurobiolaging.2011.11.010DOI Listing
April 2012

Fronto-temporal lobar degeneration: neuropathology in 60 cases.

J Neural Transm (Vienna) 2011 May 4;118(5):753-64. Epub 2011 May 4.

Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, INSERM UMR_S975, CNRS UMR7225, Groupe Hospitalier Pitié-Salpêtrière, AP-HP and UPMC-Sorbonne Universités, Paris, France.

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http://dx.doi.org/10.1007/s00702-011-0649-yDOI Listing
May 2011

Screening of OPTN in French familial amyotrophic lateral sclerosis.

Neurobiol Aging 2011 Mar 8;32(3):557.e11-3. Epub 2011 Jan 8.

Centre de Recherche de l'Institut du Cerveau et de la Moelle Epinière, INSERM UMR_S975, CNRS UMR7225, Université Pierre et Marie Curie-Paris 6, Hôpital Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/j.neurobiolaging.2010.11.005DOI Listing
March 2011

Abnormal TDP-43 and FUS proteins in muscles of sporadic IBM: similarities in a TARDBP-linked ALS patient.

J Neurol Neurosurg Psychiatry 2011 Dec 18;82(12):1414-6. Epub 2010 Jun 18.

Fédération des Maladies du Système Nerveux, Bât Paul Castaigne, Hôpital Pitié-Salpêtrière, 83 bd de l'Hôpital, 75013 Paris, France;

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http://dx.doi.org/10.1136/jnnp.2010.208868DOI Listing
December 2011

Accumulation of TDP-43 and alpha-actin in an amyotrophic lateral sclerosis patient with the K17I ANG mutation.

Acta Neuropathol 2009 Oct 16;118(4):561-73. Epub 2009 May 16.

Département de Neuropathologie, UPMC Université Paris 06, AP-HP, Assistance Publique Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, INSERM UMR-S 546 (DS) and UMR-S 679 (CD), 47-83 boulevard de l'Hôpital, Paris cedex 13, France.

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http://dx.doi.org/10.1007/s00401-009-0545-9DOI Listing
October 2009

A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes.

Epilepsy Res 2009 Jul 5;85(1):118-22. Epub 2009 Mar 5.

Service Epilepsie, Sommeil, Explorations Fonctionnelles Neurolopédiatriques et CTRS-IDEE, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1016/j.eplepsyres.2009.02.007DOI Listing
July 2009

A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease.

Neurogenetics 2009 Jul 12;10(3):265-70. Epub 2009 Feb 12.

Département de Génétique et Cytogénétique, U.F. de Neurogénétique, Assistance Publique Hôpitaux de Paris, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1007/s10048-009-0174-4DOI Listing
July 2009

A novel locus for generalized epilepsy with febrile seizures plus in French families.

Arch Neurol 2008 Jul;65(7):943-51

INSERM, UMR679, Neurologie and Thérapeutique Expérimentale, UPMC Univ Paris 06, Groupe Hospitalier Pitié-Salpêtrière, 47 boulevard de l'hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1001/archneur.65.7.943DOI Listing
July 2008

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.

Epilepsy Res 2007 Aug 6;76(1):41-8. Epub 2007 Aug 6.

INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié-Salpêtrière, 47 boulevard de l'hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1016/j.eplepsyres.2007.06.014DOI Listing
August 2007

Silencing of the Charcot-Marie-Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells.

Neurobiol Dis 2007 May 25;26(2):323-31. Epub 2007 Jan 25.

UMR 679 INSERM (formely U289)-Université Pierre et Marie Curie, IFR70, Faculté de Médecine Pierre et Marie Curie, Paris, France.

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http://dx.doi.org/10.1016/j.nbd.2006.12.018DOI Listing
May 2007

Two novel epilepsy-linked mutations leading to a loss of function of LGI1.

Arch Neurol 2007 Feb;64(2):217-22

INSERM UMR 679, Neurologie and Thérapeutique Expérimentale, Université Pierre et Marie Curie-Paris 6, Faculté de Médecine, Assistance Publique-Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, 47 boulevard de l'hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1001/archneur.64.2.217DOI Listing
February 2007

Detection of genomic rearrangements by DHPLC: a prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements.

2005 Jul;136(2):136-9

Département de Génétique, Cytogénétique et Embryologie, Hôpital Pitié-Salpétriére, AP-HP, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.30790DOI Listing
July 2005

Myoclonic seizures in the context of generalized epilepsy with febrile seizures plus (GEFS+).

Adv Neurol 2005 ;95:119-25

Neurology/Epilepsy Department and Paris VI University, Hôpital Pitie-Salpetriere, Paris, France.

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December 2004

Fever, genes, and epilepsy.

Lancet Neurol 2004 Jul;3(7):421-30

Hôpital Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/S1474-4422(04)00808-7DOI Listing
July 2004

Monogenic idiopathic epilepsies.

Lancet Neurol 2004 Apr;3(4):209-18

Unité d'Epileptologie, Assistace Publique Hôpitaux, and INSERM U 289, Hôpital de la Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/S1474-4422(04)00706-9DOI Listing
April 2004

The kinesin superfamily protein Rab6KIFL is not involved in the pathophysiology of Charcot-Marie-Tooth disease type 4C.

Int J Mol Med 2003 Jan;11(1):45-7

Department of Pediatrics, Graduate School of Medicine, University of Tokyo, Bunkyo-ku, Tokyo 113-8655, Japan.

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January 2003

A locus for simple pure febrile seizures maps to chromosome 6q22-q24.

Brain 2002 Dec;125(Pt 12):2668-80

INSERM U289, Service de Neuro-Pédiatrie, Hôpital Saint Vincent de Paul, Paris, France.

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http://dx.doi.org/10.1093/brain/awf281DOI Listing
December 2002

The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.

Nat Genet 2002 Jan 17;30(1):22-5. Epub 2001 Dec 17.

Laboratory of Genetics and Molecular Medicine, Instituto de Biomedicina, Consejo Superior de Investigaciones Científicas (CSIC), 46010 Valencia, Spain.

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http://dx.doi.org/10.1038/ng798DOI Listing
January 2002