Jose M Serratosa

Jose M Serratosa

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Jose M Serratosa

Jose M Serratosa

Publications by authors named "Jose M Serratosa"

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Glut1 deficiency is a rare but treatable cause of childhood absence epilepsy with atypical features.

Epilepsy Res 2019 Aug 21;154:39-41. Epub 2019 Apr 21.

Department of Pediatrics, Hospital Universitario Fundación Jiménez Díaz, UAM, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain; Neurology Lab and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain.

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http://dx.doi.org/10.1016/j.eplepsyres.2019.04.003DOI Listing
August 2019

External trigeminal nerve stimulation: A long term follow up study.

Seizure 2019 Jul 24;69:218-220. Epub 2019 Jan 24.

Hospital Universitario Fundación Jiménez Díaz and Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2019.01.022DOI Listing
July 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

Lafora disease offers a unique window into neuronal glycogen metabolism.

J Biol Chem 2018 05 26;293(19):7117-7125. Epub 2018 Feb 26.

From the Lafora Epilepsy Cure Initiative.

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http://dx.doi.org/10.1074/jbc.R117.803064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5949988PMC
May 2018

Tau-Induced Pathology in Epilepsy and Dementia: Notions from Patients and Animal Models.

Int J Mol Sci 2018 Apr 5;19(4). Epub 2018 Apr 5.

Laboratory of Neurology, IIS (Instituto Investigación Sanitaria/Health Research Institute)-Jiménez Díaz Foundation, UAM (Universidad Autonoma de Madrid/Autonomous University of Madrid) and Biomedical Research Network Center on Rare Diseases (CIBERER), 28045 Madrid, Spain.

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http://dx.doi.org/10.3390/ijms19041092DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979593PMC
April 2018

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

N Engl J Med 2018 03;378(11):1018-1028

From the Epilepsy Genetics-Genomics Lab, Neurology and Research Services, Veterans Affairs Greater Los Angeles Healthcare System (J.N.B., D.B., M.T., C.P., Y.-C.L., J.M. Serratosa, R.M.D., V.H.N., J.E.W., A.V.D.-E.), the Department of Neurology, David Geffen School of Medicine at UCLA (D.B., M.T., J.M. Serratosa, J.M. Stern, A.V.D.-E.), and the Department of Epidemiology, Fielding School of Public Health, University of California, Los Angeles (J.N.B.), Los Angeles, and Chapman University, Irvine (V.H.N.) - all in California; Grappe Interdisciplinaire de Génoprotéomique Appliquée Neurosciences, University of Liege, Liege, Belgium (L.N., T.M.G., B.L.); RIKEN Brain Science Institute, Saitama (T.S., H.M., K.Y.), Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka (Y.I.), Hirosaki University Graduate School of Medicine, Hirosaki (S.K.), Fukuoka University, Fukuoka (S.H.), Tokyo Women's Medical University, Tokyo (M.O., H.O.), Nagoya City University, Nagoya (S.F.), and Tsutsujigaoka Children's Clinic, Aichi (S.F.) - all in Japan; National Autonomous University of Honduras (M.T.M., Y.M.) and Universidad Tecnológica Centroamericana (R.M.D.), Tegucigalpa; National Institute of Neurology and Neurosurgery Manuel Velasco Suarez (M.E.A., I.E.M.-J., A.O., A.J.-P.) and General Hospital of Mexico (M.L.-R.), Mexico City; Universidade Federal de São Paulo, São Paulo (L.G., E.M.Y.); and the Instituto de Investigación Sanitaria-Jiménez Díaz Foundation, Autonomous University of Madrid and Biomedical Research Network Center on Rare Diseases, Madrid (J.M. Serratosa).

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http://dx.doi.org/10.1056/NEJMoa1700175DOI Listing
March 2018

Sodium selenate treatment improves symptoms and seizure susceptibility in a malin-deficient mouse model of Lafora disease.

Epilepsia 2017 03 18;58(3):467-475. Epub 2017 Jan 18.

Laboratory of Neurology, IIS-Jiménez Díaz Foundation, UAM, Madrid, Spain.

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http://dx.doi.org/10.1111/epi.13656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5495962PMC
March 2017

4-Phenylbutyric acid and metformin decrease sensitivity to pentylenetetrazol-induced seizures in a malin knockout model of Lafora disease.

Neuroreport 2017 Mar;28(5):268-271

aDepartment of Neuroscience, Laboratory of Neurology, IIS-Jiménez Díaz Foundation, UAM and Biomedical Research Network Center on Rare Diseases (CIBERER), Madrid bDepartment of Nutrient Signalling, Institute of Biomedicine of Valencia, CSIC, and CIBERER, Valencia, Spain.

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http://dx.doi.org/10.1097/WNR.0000000000000751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5491969PMC
March 2017

Pharmacological Interventions to Ameliorate Neuropathological Symptoms in a Mouse Model of Lafora Disease.

Mol Neurobiol 2016 Mar 28;53(2):1296-309. Epub 2015 Jan 28.

Instituto de Biomedicina de Valencia (CSIC), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Jaime Roig 11, 46010, Valencia, Spain.

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http://dx.doi.org/10.1007/s12035-015-9091-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5474477PMC
March 2016

Jeavons syndrome as an occipital cortex initiated generalized epilepsy: Further evidence from a patient with a photic-induced occipital seizure.

Seizure 2015 Nov 12;32:72-4. Epub 2015 Sep 12.

Hospital Universitario Fundación Jiménez Díaz, Avda. Reyes Católicos 2, 28040 Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2015.09.003DOI Listing
November 2015

Long-term efficacy and safety of lacosamide monotherapy in the treatment of partial-onset seizures: A multicenter evaluation.

Seizure 2015 Jul 23;29:119-22. Epub 2015 Apr 23.

Hospital Universitario Fundación Jiménez Díaz, Instituto de Investigaciones Sanitarias Fundación Jiménez Díaz and CIBERER, Avda. Reyes Católicos, 2, 28040 Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2015.04.003DOI Listing
July 2015

Uniparental disomy as a cause of spinal muscular atrophy and progressive myoclonic epilepsy: phenotypic homogeneity due to the homozygous c.125C>T mutation in ASAH1.

Neuromuscul Disord 2015 Mar 22;25(3):222-4. Epub 2014 Nov 22.

Neurology Lab and Epilepsy Unit, Department of Neurology, IIS- Fundación Jiménez Díaz, UAM, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966140069
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http://dx.doi.org/10.1016/j.nmd.2014.11.007DOI Listing
March 2015

Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene.

Epilepsy Res 2014 Oct 7;108(8):1274-8. Epub 2014 Jul 7.

Neurology Lab and Epilepsy Unit, Department of Neurology, IIS - Fundación Jiménez Díaz, UAM, Madrid, Spain; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Madrid, Spain. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2014.06.011DOI Listing
October 2014

Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole.

Front Neurosci 2014 12;8:291. Epub 2014 Sep 12.

Laboratory of Neurology, IIS-Fundación Jiménez Díaz, Universidad Autónoma de Madrid Madrid, Spain ; Centro de Investigación Biomédica en Red de Enfermedades Raras Madrid, Spain.

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http://dx.doi.org/10.3389/fnins.2014.00291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4162417PMC
October 2014

Hyperexcitability and epileptic seizures in a model of frontotemporal dementia.

Neurobiol Dis 2013 Oct 14;58:200-8. Epub 2013 Jun 14.

Instituto de Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain.

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http://dx.doi.org/10.1016/j.nbd.2013.06.005DOI Listing
October 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
Publisher Site
http://dx.doi.org/10.1093/hmg/dds373DOI Listing
December 2012

Laforin and malin deletions in mice produce similar neurologic impairments.

J Neuropathol Exp Neurol 2012 May;71(5):413-21

Laboratory of Neurology, Instituto Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain.

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http://dx.doi.org/10.1097/NEN.0b013e318253350fDOI Listing
May 2012

A PTG variant contributes to a milder phenotype in Lafora disease.

PLoS One 2011 30;6(6):e21294. Epub 2011 Jun 30.

Laboratorio de Neurología-Unidad de Epilepsia, Servicio de Neurología, Instituto Investigación Sanitaria Fundación Jiménez Díaz, and Centro de Investigación Biomédica en Red de Enfermedades Raras, Madrid, Spain.

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http://digital.csic.es/bitstream/10261/37651/1/Plos%20One%20
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http://dx.plos.org/10.1371/journal.pone.0021294
Publisher Site
http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0021294PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3127956PMC
December 2011

Efficacy and tolerability of zonisamide in idiopathic generalized epilepsy.

Epileptic Disord 2009 Mar 5;11(1):61-6. Epub 2009 Mar 5.

Fundación Jiménez Díaz, Madrid, Spain.

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http://dx.doi.org/10.1684/epd.2009.0239DOI Listing
March 2009

Validation of the Spanish version of the Side Effect and Life Satisfaction Inventory in patients with epilepsy.

Epilepsy Behav 2009 Jan 11;14(1):96-101. Epub 2008 Oct 11.

Neurology Department, University Hospital La Fe de Valencia, Valencia, Spain.

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http://dx.doi.org/10.1016/j.yebeh.2008.09.003DOI Listing
January 2009

Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene.

Epilepsia 2008 Mar 26;49(3):516-20. Epub 2007 Sep 26.

Epilepsy Unit, Neurology Service, Fundación Jiménez Díaz, Madrid, Spain.

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http://dx.doi.org/10.1111/j.1528-1167.2007.01328.xDOI Listing
March 2008

Tailored resections in occipital lobe epilepsy surgery guided by monitoring with subdural electrodes: characteristics and outcome.

Epilepsy Res 2007 Oct 17;77(1):1-10. Epub 2007 Oct 17.

Epilepsy Unit, Department of Neurology, Fundación Jiménez Díaz, Avda. Reyes Católicos 2, 28040 Madrid, Spain.

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http://dx.doi.org/10.1016/j.eplepsyres.2007.07.004DOI Listing
October 2007

Invited comments on the Shostak and Ottman review.

Authors:
Jose M Serratosa

Epilepsia 2006 Oct;47(10):1754-5; author reply 1755-6

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http://dx.doi.org/10.1111/j.1528-1167.2006.00885_9.xDOI Listing
October 2006

Postictal behaviour in temporal lobe epilepsy.

Epileptic Disord 2006 Sep;8(3):228-31

Unidad de Epilepsia, Servicio de Neurología, Fundación Jiménez Díaz, Madrid, Spain.

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September 2006

MRI volumetry and proton MR spectroscopy of the brain in Lafora disease.

Epilepsia 2006 Apr;47(4):788-92

Epilepsy Unit, Neurology Service, Fundación Jiménez Díaz, Madrid, Spain.

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http://dx.doi.org/10.1111/j.1528-1167.2006.00526.xDOI Listing
April 2006

Genetics of the epilepsies.

Curr Opin Neurol 2004 Apr;17(2):147-53

Epilepsy Unit, Neurology Service, Fundación Jiménez Díaz and Department of Medicine, Universidad Autónoma de Madrid, Madrid, Spain.

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April 2004

Evaluations and awards at the fifth European Congress of Epileptology, Madrid, 6-10 October 2002.

Epilepsia 2004 Apr;45(4):396-8

Servicio de Neurología, progama de Epilepsia, Hospital Ruber Internacional, La Masó, Madrid, Spain.

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http://dx.doi.org/10.1111/j.0013-9580.2004.63903.xDOI Listing
April 2004

Subthalamic lesion and paroxysmal tonic spasms.

Mov Disord 2003 Nov;18(11):1401-3

Department of Neurology, Fundación Jimenez Díaz, Madrid, Spain.

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http://dx.doi.org/10.1002/mds.10516DOI Listing
November 2003

Characterization of a 6p21 translocation breakpoint in a family with idiopathic generalized epilepsy.

Epilepsy Res 2003 Oct;56(2-3):155-63

Laboratorio de Neurología, Fundación Jiménez Díaz, Avda. Reyes Católicos 2, Madrid 28040, Spain.

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October 2003

Is refractory epilepsy preventable?

Epilepsia 2002 Apr;43(4):437-44

Epilepsy Unit, Hospital Clinic i Provincial, Barcelona, Spain.

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http://dx.doi.org/10.1046/j.1528-1157.2002.38501.xDOI Listing
April 2002