Pasquale Striano

Pasquale Striano

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Pasquale Striano

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LC-MS/MS-Based Quantification of 9 Antiepileptic Drugs From a Dried Sample Spot Device.

Ther Drug Monit 2019 Jun;41(3):331-339

Laboratory of Neurological Biochemistry and Neuropharmacology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano.

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http://dx.doi.org/10.1097/FTD.0000000000000600DOI Listing
June 2019

Moving beyond sodium valproate: choosing the right anti-epileptic drug in children.

Expert Opin Pharmacother 2019 May 17:1-8. Epub 2019 May 17.

a Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Opthalmology, Genetics, Maternal and Child's Health , University of Genoa , Genoa , Italy.

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http://dx.doi.org/10.1080/14656566.2019.1617850DOI Listing
May 2019

Epidemiology and familial clustering of pediatric epilepsy in the geographic isolate of Ischia.

Epilepsy Res 2019 May 4;154:86-89. Epub 2019 May 4.

Istituto di Ricerche Farmacologiche Mario Negri IRCCS, Dip. Neuroscienze, Lab. Malattie Neurologiche, Milano, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2019.05.004DOI Listing
May 2019

Familial adult myoclonic epilepsy: A new expansion repeats disorder.

Seizure 2019 Apr 19;67:73-77. Epub 2019 Mar 19.

Pediatric Neurology and Muscular Diseases Unit, DINOGMI-Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, IRCCS "G. Gaslini" Institute, Genova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2019.03.009DOI Listing
April 2019

The impact of perampanel and targeting AMPA transmission on anti-seizure drug discovery.

Expert Opin Drug Discov 2019 Mar 11;14(3):195-197. Epub 2019 Jan 11.

b Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health , University of Genoa, "G. Gaslini" Institute , Genova , Italy.

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http://dx.doi.org/10.1080/17460441.2019.1566318DOI Listing
March 2019

An observational study of fixed-dose Tanacetum parthenium nutraceutical preparation for prophylaxis of pediatric headache.

Ital J Pediatr 2019 Mar 12;45(1):36. Epub 2019 Mar 12.

Child Neurology, Pediatric Headache & Sleep Disorders Centre, Chair of Pediatrics, NESMOS Department, Faculty of Medicine and Psychology, Sapienza University, Via Di Grottarossa, 1035-1039, 00189, Rome, Italy.

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http://dx.doi.org/10.1186/s13052-019-0624-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6419324PMC
March 2019

GLUT1 deficiency and pediatric-onset hereditary spastic paraplegia: A new association.

Eur J Paediatr Neurol 2019 03;23(2):233-234

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genova, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10903798193006
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http://dx.doi.org/10.1016/j.ejpn.2019.02.010DOI Listing
March 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

GABA strikes down again in epilepsy.

Ann Transl Med 2019 Feb;7(3):57

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy.

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http://atm.amegroups.com/article/view/23300/22570
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http://dx.doi.org/10.21037/atm.2018.12.55DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6389577PMC
February 2019

A synaptic protein defect associated with reflex seizure disorder.

Neurology 2019 Jan 12;92(2):63-64. Epub 2018 Dec 12.

From the Pediatric Neurology and Muscular Diseases Unit (P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy; and Department of Pediatrics and Pediatric Neurology (P.H.), Georg August University, Göttingen, Germany.

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http://dx.doi.org/10.1212/WNL.0000000000006720DOI Listing
January 2019

Electroclinical features of epilepsy monosomy 1p36 syndrome and their implications.

Acta Neurol Scand 2018 Dec 14;138(6):523-530. Epub 2018 Aug 14.

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, 'G. Gaslini' Institute, University of Genoa, Genova, Italy.

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http://dx.doi.org/10.1111/ane.13006DOI Listing
December 2018

The growing landscape of ictal epileptic headache.

Cephalalgia 2018 Nov 23;38(13):1988-1989. Epub 2018 Mar 23.

4 NESMOS Department, Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1177/0333102418768077DOI Listing
November 2018

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease.

Neurology 2018 Nov 9;91(22):e2078-e2088. Epub 2018 Nov 9.

From the Department of Clinical and Experimental Epilepsy (S.Z., Z.M., L.H.-H., S.K., S. Balestrini, S.M.S.) and Division of Neuropathology (Z.M., M.T.), UCL Institute of Neurology, London, UK; Clinic of Neurology (S.Z.), Department of Experimental and Clinical Medicine, Marche Polytechnic University, Ancona, Italy; Department of Pediatric Neurology and Neurological Rehabilitation (C.S., T.H., P.W., G.J.K.) and Neurosurgery Clinic and Clinic for Epilepsy Surgery (M.K.), Schön Klinik Vogtareuth; Department of Pediatrics (C.S., M.S.), Children's Hospital Augsburg, Germany; UCL Great Ormond Street Institute of Child Health (J.R.N., K.V., S.M.V., J.H.C.), London, UK; Paediatric Neurology and Neurogenetics Unit and Laboratories (D.M., R.G.), A. Meyer Children's Hospital, University of Florence, Italy; Chalfont Centre for Epilepsy (Z.M., L.H.-H., S.K., S. Balestrini, S.M.S.), Chalfont-St-Peter, Buckinghamshire, UK; CeGaT-Center for Genomics and Transcriptomics (A.P., S. Biskup), Tübingen, Germany; Neurogenetics Unit (M.L.), Department of Medical Genetics, Hospital de São João, Porto, Portugal; Department of Pediatrics and Adolescent Medicine (J.G.), University Medical Center Göttingen; Hospital for Children and Adolescents (A.M.), University Clinic Leipzig, Germany; Freiburg Medical Laboratory (M.J.), Dubai; The Danish Epilepsy Centre (R.S.M., E.G.), Dianalund; Institute for Regional Health Services (R.S.M., E.G.), University of Southern Denmark, Odense; Department of Clinical Genetics (B.S.K.), Odense University Hospital; Hans Christian Andersen Children's Hospital (L.K.H.), Odense, Denmark; Pediatric Neurology and Muscular Diseases Unit (M.S.V., P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa "G. Gaslini" Institute, Italy; Division of Neurology (K.L.H.), Children's Hospital of Philadelphia, PA; Department of Neurology (S.D., C.L.S.-H.), Division of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD; Center for Genomic Medicine (N.H.-F.), Tohoku University; Department of Pediatrics (N.H.-F.), Tohoku University School of Medicine, Sendai, Japan; Department of Pediatrics (T.T., R.L.) and Institute of Clinical Medicine (K.O.), University of Tartu; Children's Clinic (T.T., R.L.), Department of Radiology (P.I.), and Department of Clinical Genetics, United Laboratories (K.O.), Tartu University Hospital, Estonia; Ludwig-Maximilians-University Munich (I.K.); Department of Pediatric Neurology (A.H.), Clinic Traunstein; Children's Hospital (M.K.), Dr. Horst Schmidt Klinik, Wiesbaden; Altona Children's Hospital (J.H.), Hamburg; Department of Pediatrics (C. Makowski), Technische Universität München, Germany; Department of Clinical Genetics (S.G.), Royal North Shore Hospital, St Leonards; John Hunter Children's Hospital (G.M.S.), New Lambton Heights, New South Wales, Australia; Department of Neurology (R.T.), University Hospital of Wales; Institute of Psychological Medicine and Clinical Neurosciences (R.H.T.), Cardiff University; Division of Neuroradiology (C. Micallef), National Hospital for Neurology and Neurosurgery, London; Department of Brain Repair & Rehabilitation (D.J.W.), Stroke Research Centre, UCL Institute of Neurology, London, UK; Paracelsus Medical University (G.J.K.), Salzburg, Austria; and IRCCS Stella Maris Foundation (R.G.), Pisa, Italy.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000006567DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282239PMC
November 2018

Emerging drugs for the treatment of Dravet syndrome.

Expert Opin Emerg Drugs 2018 Nov 27. Epub 2018 Nov 27.

d Neurology Unit, S. Anna Hospital , Como , Italy.

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https://www.tandfonline.com/doi/full/10.1080/14728214.2018.1
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http://dx.doi.org/10.1080/14728214.2018.1552937DOI Listing
November 2018

Pharmacokinetics and Drug Interaction of Antiepileptic Drugs in Children and Adolescents.

Paediatr Drugs 2018 Oct;20(5):429-453

Department of Pediatrics, University of L'Aquila, Via Vetoio, 1. Coppito, L'Aquila, Italy.

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http://dx.doi.org/10.1007/s40272-018-0302-4DOI Listing
October 2018

"Ictal epileptic headache" and the revised International Headache Classification (ICHD-3) published in Cephalalgia 2018, vol. 38(1) 1-211: Not just a matter of definition!

Epilepsy Behav 2018 10 14;87:243-245. Epub 2018 Aug 14.

University Medical Center Utrecht, Utrecht, Netherlands; NESMOS Department, Sapienza University, Rome, Italy.

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http://dx.doi.org/10.1016/j.yebeh.2018.07.018DOI Listing
October 2018

Multiorgan mitochondrial dysfunction is not a main feature of MFN2 mutations (Reply to: CMT2 due to homozygous MFN2 variants is a multiorgan mitochondrial disorder).

Eur J Paediatr Neurol 2018 09 30;22(5):892-893. Epub 2018 Apr 30.

Department of Pediatrics, University of L'Aquila, L'Aquila, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.04.011DOI Listing
September 2018

Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2018 Sep 27. Epub 2018 Sep 27.

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
September 2018

Should children over 12 years have an EEG after a single unprovoked epileptic seizure?

Minerva Pediatr 2018 08;70(4):409-411

Department of Paediatric Neurology, Oxford Children's Hospital, Oxford, UK.

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http://dx.doi.org/10.23736/S0026-4946.17.04986-6DOI Listing
August 2018

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

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

Genet Med 2018 Aug 29. Epub 2018 Aug 29.

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
August 2018

A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations.

Neonatology 2017 20;112(4):387-393. Epub 2017 Sep 20.

Department of Neonatology, Centro Hospitalar São João, Faculty of Medicine, University of Porto, Porto, Portugal.

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http://dx.doi.org/10.1159/000478651DOI Listing
July 2018

Ocular phenotype and electroretinogram abnormalities in Lafora disease: A "window to the brain".

Neurology 2018 Jul 15;91(3):137-139. Epub 2018 Jun 15.

From the Hospital for Sick Children (A.V., A.T., S.A., B.M.), Toronto; University of Toronto (A.V.),Canada; Polyclinic Hospital San Martino (A.M.), Genova; University of Genova (N.K., P.S.); G. Gaslini Institute (P.S.), Genova; and University of Texas Southwestern (B.M.), Dallas.

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http://dx.doi.org/10.1212/WNL.0000000000005821DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6059029PMC
July 2018

How to select the appropriate pharmacotherapy for absence seizures in children.

Expert Opin Pharmacother 2018 07 20;19(10):1045-1047. Epub 2018 Jun 20.

a Department of Pediatrics, San Salvatore Hospital , University of L'Aquila , L'Aquila , Italy.

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http://dx.doi.org/10.1080/14656566.2018.1484902DOI Listing
July 2018

Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations.

J Neurol 2018 Jun 17;265(6):1419-1425. Epub 2018 Apr 17.

Center of Translational and Experimental Myology, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1007/s00415-018-8826-7DOI Listing
June 2018

The genetic basis of juvenile myoclonic epilepsy.

Lancet Neurol 2018 06;17(6):493-495

Consiglio Nazionale delle Ricerche Neuroscience Institute and Department of Biomedical Sciences, University of Padua, Padova, Italy.

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http://dx.doi.org/10.1016/S1474-4422(18)30173-XDOI Listing
June 2018

Whole-exome sequencing to disentangle the complex genetics of hippocampal sclerosis-temporal lobe epilepsy.

Neurol Genet 2018 Jun 11;4(3):e241. Epub 2018 Jun 11.

Pediatric Neurology and Muscular Diseases Unit (P.S.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova; and CNR-Neuroscience Institute and Department of Biomedical Sciences (C.N.), University of Padua, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5999347PMC
June 2018

Analysis of shared heritability in common disorders of the brain.

Authors:
Verneri Anttila Brendan Bulik-Sullivan Hilary K Finucane Raymond K Walters Jose Bras Laramie Duncan Valentina Escott-Price Guido J Falcone Padhraig Gormley Rainer Malik Nikolaos A Patsopoulos Stephan Ripke Zhi Wei Dongmei Yu Phil H Lee Patrick Turley Benjamin Grenier-Boley Vincent Chouraki Yoichiro Kamatani Claudine Berr Luc Letenneur Didier Hannequin Philippe Amouyel Anne Boland Jean-François Deleuze Emmanuelle Duron Badri N Vardarajan Christiane Reitz Alison M Goate Matthew J Huentelman M Ilyas Kamboh Eric B Larson Ekaterina Rogaeva Peter St George-Hyslop Hakon Hakonarson Walter A Kukull Lindsay A Farrer Lisa L Barnes Thomas G Beach F Yesim Demirci Elizabeth Head Christine M Hulette Gregory A Jicha John S K Kauwe Jeffrey A Kaye James B Leverenz Allan I Levey Andrew P Lieberman Vernon S Pankratz Wayne W Poon Joseph F Quinn Andrew J Saykin Lon S Schneider Amanda G Smith Joshua A Sonnen Robert A Stern Vivianna M Van Deerlin Linda J Van Eldik Denise Harold Giancarlo Russo David C Rubinsztein Anthony Bayer Magda Tsolaki Petra Proitsi Nick C Fox Harald Hampel Michael J Owen Simon Mead Peter Passmore Kevin Morgan Markus M Nöthen Martin Rossor Michelle K Lupton Per Hoffmann Johannes Kornhuber Brian Lawlor Andrew McQuillin Ammar Al-Chalabi Joshua C Bis Agustin Ruiz Mercè Boada Sudha Seshadri Alexa Beiser Kenneth Rice Sven J van der Lee Philip L De Jager Daniel H Geschwind Matthias Riemenschneider Steffi Riedel-Heller Jerome I Rotter Gerhard Ransmayr Bradley T Hyman Carlos Cruchaga Montserrat Alegret Bendik Winsvold Priit Palta Kai-How Farh Ester Cuenca-Leon Nicholas Furlotte Tobias Kurth Lannie Ligthart Gisela M Terwindt Tobias Freilinger Caroline Ran Scott D Gordon Guntram Borck Hieab H H Adams Terho Lehtimäki Juho Wedenoja Julie E Buring Markus Schürks Maria Hrafnsdottir Jouke-Jan Hottenga Brenda Penninx Ville Artto Mari Kaunisto Salli Vepsäläinen Nicholas G Martin Grant W Montgomery Mitja I Kurki Eija Hämäläinen Hailiang Huang Jie Huang Cynthia Sandor Caleb Webber Bertram Muller-Myhsok Stefan Schreiber Veikko Salomaa Elizabeth Loehrer Hartmut Göbel Alfons Macaya Patricia Pozo-Rosich Thomas Hansen Thomas Werge Jaakko Kaprio Andres Metspalu Christian Kubisch Michel D Ferrari Andrea C Belin Arn M J M van den Maagdenberg John-Anker Zwart Dorret Boomsma Nicholas Eriksson Jes Olesen Daniel I Chasman Dale R Nyholt Andreja Avbersek Larry Baum Samuel Berkovic Jonathan Bradfield Russell Buono Claudia B Catarino Patrick Cossette Peter De Jonghe Chantal Depondt Dennis Dlugos Thomas N Ferraro Jacqueline French Helle Hjalgrim Jennifer Jamnadas-Khoda Reetta Kälviäinen Wolfram S Kunz Holger Lerche Costin Leu Dick Lindhout Warren Lo Daniel Lowenstein Mark McCormack Rikke S Møller Anne Molloy Ping-Wing Ng Karen Oliver Michael Privitera Rodney Radtke Ann-Kathrin Ruppert Thomas Sander Steven Schachter Christoph Schankin Ingrid Scheffer Susanne Schoch Sanjay M Sisodiya Philip Smith Michael Sperling Pasquale Striano Rainer Surges G Neil Thomas Frank Visscher Christopher D Whelan Federico Zara Erin L Heinzen Anthony Marson Felicitas Becker Hans Stroink Fritz Zimprich Thomas Gasser Raphael Gibbs Peter Heutink Maria Martinez Huw R Morris Manu Sharma Mina Ryten Kin Y Mok Sara Pulit Steve Bevan Elizabeth Holliday John Attia Thomas Battey Giorgio Boncoraglio Vincent Thijs Wei-Min Chen Braxton Mitchell Peter Rothwell Pankaj Sharma Cathie Sudlow Astrid Vicente Hugh Markus Christina Kourkoulis Joana Pera Miriam Raffeld Scott Silliman Vesna Boraska Perica Laura M Thornton Laura M Huckins N William Rayner Cathryn M Lewis Monica Gratacos Filip Rybakowski Anna Keski-Rahkonen Anu Raevuori James I Hudson Ted Reichborn-Kjennerud Palmiero Monteleone Andreas Karwautz Katrin Mannik Jessica H Baker Julie K O'Toole Sara E Trace Oliver S P Davis Sietske G Helder Stefan Ehrlich Beate Herpertz-Dahlmann Unna N Danner Annemarie A van Elburg Maurizio Clementi Monica Forzan Elisa Docampo Jolanta Lissowska Joanna Hauser Alfonso Tortorella Mario Maj Fragiskos Gonidakis Konstantinos Tziouvas Hana Papezova Zeynep Yilmaz Gudrun Wagner Sarah Cohen-Woods Stefan Herms Antonio Julià Raquel Rabionet Danielle M Dick Samuli Ripatti Ole A Andreassen Thomas Espeseth Astri J Lundervold Vidar M Steen Dalila Pinto Stephen W Scherer Harald Aschauer Alexandra Schosser Lars Alfredsson Leonid Padyukov Katherine A Halmi James Mitchell Michael Strober Andrew W Bergen Walter Kaye Jin Peng Szatkiewicz Bru Cormand Josep Antoni Ramos-Quiroga Cristina Sánchez-Mora Marta Ribasés Miguel Casas Amaia Hervas Maria Jesús Arranz Jan Haavik Tetyana Zayats Stefan Johansson Nigel Williams Astrid Dempfle Aribert Rothenberger Jonna Kuntsi Robert D Oades Tobias Banaschewski Barbara Franke Jan K Buitelaar Alejandro Arias Vasquez Alysa E Doyle Andreas Reif Klaus-Peter Lesch Christine Freitag Olga Rivero Haukur Palmason Marcel Romanos Kate Langley Marcella Rietschel Stephanie H Witt Soeren Dalsgaard Anders D Børglum Irwin Waldman Beth Wilmot Nikolas Molly Claiton H D Bau Jennifer Crosbie Russell Schachar Sandra K Loo James J McGough Eugenio H Grevet Sarah E Medland Elise Robinson Lauren A Weiss Elena Bacchelli Anthony Bailey Vanessa Bal Agatino Battaglia Catalina Betancur Patrick Bolton Rita Cantor Patrícia Celestino-Soper Geraldine Dawson Silvia De Rubeis Frederico Duque Andrew Green Sabine M Klauck Marion Leboyer Pat Levitt Elena Maestrini Shrikant Mane Daniel Moreno- De-Luca Jeremy Parr Regina Regan Abraham Reichenberg Sven Sandin Jacob Vorstman Thomas Wassink Ellen Wijsman Edwin Cook Susan Santangelo Richard Delorme Bernadette Rogé Tiago Magalhaes Dan Arking Thomas G Schulze Robert C Thompson Jana Strohmaier Keith Matthews Ingrid Melle Derek Morris Douglas Blackwood Andrew McIntosh Sarah E Bergen Martin Schalling Stéphane Jamain Anna Maaser Sascha B Fischer Céline S Reinbold Janice M Fullerton José Guzman-Parra Fermin Mayoral Peter R Schofield Sven Cichon Thomas W Mühleisen Franziska Degenhardt Johannes Schumacher Michael Bauer Philip B Mitchell Elliot S Gershon John Rice James B Potash Peter P Zandi Nick Craddock I Nicol Ferrier Martin Alda Guy A Rouleau Gustavo Turecki Roel Ophoff Carlos Pato Adebayo Anjorin Eli Stahl Markus Leber Piotr M Czerski Cristiana Cruceanu Ian R Jones Danielle Posthuma Till F M Andlauer Andreas J Forstner Fabian Streit Bernhard T Baune Tracy Air Grant Sinnamon Naomi R Wray Donald J MacIntyre David Porteous Georg Homuth Margarita Rivera Jakob Grove Christel M Middeldorp Ian Hickie Michele Pergadia Divya Mehta Johannes H Smit Rick Jansen Eco de Geus Erin Dunn Qingqin S Li Matthias Nauck Robert A Schoevers Aartjan Tf Beekman James A Knowles Alexander Viktorin Paul Arnold Cathy L Barr Gabriel Bedoya-Berrio O Joseph Bienvenu Helena Brentani Christie Burton Beatriz Camarena Carolina Cappi Danielle Cath Maria Cavallini Daniele Cusi Sabrina Darrow Damiaan Denys Eske M Derks Andrea Dietrich Thomas Fernandez Martijn Figee Nelson Freimer Gloria Gerber Marco Grados Erica Greenberg Gregory L Hanna Andreas Hartmann Matthew E Hirschtritt Pieter J Hoekstra Alden Huang Chaim Huyser Cornelia Illmann Michael Jenike Samuel Kuperman Bennett Leventhal Christine Lochner Gholson J Lyon Fabio Macciardi Marcos Madruga-Garrido Irene A Malaty Athanasios Maras Lauren McGrath Eurípedes C Miguel Pablo Mir Gerald Nestadt Humberto Nicolini Michael S Okun Andrew Pakstis Peristera Paschou John Piacentini Christopher Pittenger Kerstin Plessen Vasily Ramensky Eliana M Ramos Victor Reus Margaret A Richter Mark A Riddle Mary M Robertson Veit Roessner Maria Rosário Jack F Samuels Paul Sandor Dan J Stein Fotis Tsetsos Filip Van Nieuwerburgh Sarah Weatherall Jens R Wendland Tomasz Wolanczyk Yulia Worbe Gwyneth Zai Fernando S Goes Nicole McLaughlin Paul S Nestadt Hans-Jorgen Grabe Christel Depienne Anuar Konkashbaev Nuria Lanzagorta Ana Valencia-Duarte Elvira Bramon Nancy Buccola Wiepke Cahn Murray Cairns Siow A Chong David Cohen Benedicto Crespo-Facorro James Crowley Michael Davidson Lynn DeLisi Timothy Dinan Gary Donohoe Elodie Drapeau Jubao Duan Lieuwe Haan David Hougaard Sena Karachanak-Yankova Andrey Khrunin Janis Klovins Vaidutis Kučinskas Jimmy Lee Chee Keong Svetlana Limborska Carmel Loughland Jouko Lönnqvist Brion Maher Manuel Mattheisen Colm McDonald Kieran C Murphy Igor Nenadic Jim van Os Christos Pantelis Michele Pato Tracey Petryshen Digby Quested Panos Roussos Alan R Sanders Ulrich Schall Sibylle G Schwab Kang Sim Hon-Cheong So Elisabeth Stögmann Mythily Subramaniam Draga Toncheva John Waddington James Walters Mark Weiser Wei Cheng Robert Cloninger David Curtis Pablo V Gejman Frans Henskens Morten Mattingsdal Sang-Yun Oh Rodney Scott Bradley Webb Gerome Breen Claire Churchhouse Cynthia M Bulik Mark Daly Martin Dichgans Stephen V Faraone Rita Guerreiro Peter Holmans Kenneth S Kendler Bobby Koeleman Carol A Mathews Alkes Price Jeremiah Scharf Pamela Sklar Julie Williams Nicholas W Wood Chris Cotsapas Aarno Palotie Jordan W Smoller Patrick Sullivan Jonathan Rosand Aiden Corvin Benjamin M Neale Jonathan M Schott Richard Anney Josephine Elia Maria Grigoroiu-Serbanescu Howard J Edenberg Robin Murray

Science 2018 06;360(6395)

Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.

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http://dx.doi.org/10.1126/science.aap8757DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097237PMC
June 2018

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation.

Eur J Paediatr Neurol 2018 May 18;22(3):541-543. Epub 2017 Dec 18.

Laboratory of Neurogenetics and Neuroscience, Institute G.Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2017.12.005DOI Listing
May 2018

A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.

Eur J Paediatr Neurol 2018 May 5;22(3):563-567. Epub 2018 Jan 5.

Department of Pediatrics, University of L'Aquila, L'Aquila, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2017.12.020DOI Listing
May 2018

Intravenous carbamazepine for the treatment of epilepsy.

Expert Opin Pharmacother 2018 May 12;19(7):743-747. Epub 2018 Apr 12.

e Neurology Unit , S. Anna Hospital , Como , Italy.

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http://dx.doi.org/10.1080/14656566.2018.1462338DOI Listing
May 2018

Clinical reappraisal of the influence of drug-transporter polymorphisms in epilepsy.

Expert Opin Drug Metab Toxicol 2018 May 28;14(5):505-512. Epub 2018 May 28.

a Child Neurology, Chair of Pediatrics, NESMOS Department, Faculty of Medicine and Psychology , Sapienza University, c/o Sant'Andrea Hospital , Rome , Italy.

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http://dx.doi.org/10.1080/17425255.2018.1473377DOI Listing
May 2018

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.

Seizure 2018 Apr 2;57:63-65. Epub 2018 Mar 2.

Laboratory of Neurogenetics and Neuroscience, "G. Gaslini" Institute, Genova, Italy.

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http://dx.doi.org/10.1016/j.seizure.2018.02.011DOI Listing
April 2018

Mutations in MICAL-1cause autosomal-dominant lateral temporal epilepsy.

Ann Neurol 2018 Mar 13;83(3):483-493. Epub 2018 Mar 13.

CNR-Neuroscience Institute, Section of Padua, Padova, Italy.

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http://dx.doi.org/10.1002/ana.25167DOI Listing
March 2018

Recent advances in epilepsy genetics.

Neurosci Lett 2018 02 10;667:4-9. Epub 2017 May 10.

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophtalmology, Genetics, Maternal and Child Health, Institute "G. Gaslini" University of Genova, Genoa, Italy, Italy.

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http://dx.doi.org/10.1016/j.neulet.2017.05.014DOI Listing
February 2018

Pyridoxine-dependent epilepsies: an observational study on clinical, diagnostic, therapeutic and prognostic features in a pediatric cohort.

Metab Brain Dis 2018 02 25;33(1):261-269. Epub 2017 Nov 25.

General Pediatrics and Pediatric Acute and Emergency Unit, Policlinico-Vittorio-Emanuele University Hospital, University of Catania, Catania, Italy.

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http://dx.doi.org/10.1007/s11011-017-0150-xDOI Listing
February 2018

Rufinamide for the treatment of Lennox-Gastaut syndrome: evidence from clinical trials and clinical practice.

Epileptic Disord 2018 Feb;20(1):13-29

Hospital de Bellvitge, Barcelona, Spain.

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http://dx.doi.org/10.1684/epd.2017.0950DOI Listing
February 2018

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

Brain 2018 02;141(2):391-408

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK.

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https://academic.oup.com/brain/article/141/2/391/4818311
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http://dx.doi.org/10.1093/brain/awx341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5837616PMC
February 2018

Confirmation of mutations in as a novel cause of vitamin B -dependent epilepsy.

J Med Genet 2017 12 8;54(12):809-814. Epub 2017 Apr 8.

radiz - "Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases University of Zurich", University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1136/jmedgenet-2017-104521DOI Listing
December 2017

Reply to: "the complex interrelations between two paroxysmal disorders: headache and epilepsy".

Neurol Sci 2017 Nov 19;38(11):2067-2068. Epub 2017 Jul 19.

Neurology Unit, Department of Medicine, S. Anna Hospital, Como, Italy.

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http://dx.doi.org/10.1007/s10072-017-3061-zDOI Listing
November 2017

Novel mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.

Neurol Genet 2017 Oct 9;3(5):e179. Epub 2017 Aug 9.

Istituto G. Gaslini (A.A., M.I., F.P., A.O., M.S.V., C.M., M.S., P.S., V.C., F.Z.), Genova; Università degli Studi di Genova (A.A., M.I., C.M., P.S.); Ospedale San Paolo (R.S.), Milano, Italy; Dipartimento di Biochimica Biofisica e Patologia Generale (A.T., V.N.), Seconda Università di Napoli; and Telethon Institute of Genetics and Medicine (A.T., V.N.).

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http://dx.doi.org/10.1212/NXG.0000000000000179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550382PMC
October 2017

Medical management for neurosurgical related seizures.

Expert Opin Pharmacother 2017 Oct 1;18(14):1491-1498. Epub 2017 Sep 1.

b Paediatric Neurology and Muscular Diseases Unit, Department of Neurosciences , "G.Gaslini" Institute, University of Genova , Genova , Italy.

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http://dx.doi.org/10.1080/14656566.2017.1373092DOI Listing
October 2017

Variable course of Unverricht-Lundborg disease: Early prognostic factors.

Neurology 2017 Oct 20;89(16):1691-1697. Epub 2017 Sep 20.

From the Department of Neurophysiopathology and Epilepsy Centre (L.C., C.T., F.P., S.F.) and Pediatric Neurology (T.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; Department of Medical and Surgical Sciences (E.F., A.G., U.A.), Magna Graecia University, Catanzaro; Regional Epilepsy Centre (E.F., U.A.), Bianchi-Melacrino-Morelli Hospital, Reggio Calabria; Unit of Neurology (R.M., E.P., P.R.), IRCCS Institute of Neurological Sciences, Bellaria Hospital, Bologna; Pediatric Neurology and Muscular Diseases Unit (P.S.), DINOGMI-Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, G. Gaslini Institute; Department of Neuroscience and Epilepsy Centre (A.M.), G. Martino Policlinico AOU, University of Messina; Institute of Neurological Sciences (A.G.), National Research Council, Mangone, Cosenza; Department of Neurology (V.B.), S. Anna Hospital, Como; Department of Neurology and Psychiatry (M.F.), Neurology Unit, Sapienza University, Rome; Epilepsy Center (F.B.), Department of Child Neuropsychiatry, C. Poma Hospital, Mantua; and Department of Neurology and Epilepsy Centre (A.B.), San Donato Hospital, Arezzo, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000004518DOI Listing
October 2017

Teaching Neuro: Figure of 8: The clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9).

Neurology 2017 10;89(14):e172-e173

From the Neuroradiology Unit (M.S., A.R.), Laboratory of Neurogenetics (F.Z.), and Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa (P.S.), Istituto "Giannina Gaslini," Genova, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000004542DOI Listing
October 2017

The "plus" side of epilepsy phenotyping.

Neurology 2017 Sep 25;89(12):1202-1203. Epub 2017 Aug 25.

From the Paediatric Neurosciences Research Group (S.M.Z.), Royal Hospital for Children & University of Glasgow, UK; and Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (P.S.), University of Genoa, "G. Gaslini" Institute, Italy.

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http://dx.doi.org/10.1212/WNL.0000000000004399DOI Listing
September 2017

Expert Opinion on the Management of Lennox-Gastaut Syndrome: Treatment Algorithms and Practical Considerations.

Front Neurol 2017 29;8:505. Epub 2017 Sep 29.

Epilepsy Unit, Child Neurology Department, Hospital San Juan de Déu, ERN EpiCARE, Barcelona, Spain.

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http://journal.frontiersin.org/article/10.3389/fneur.2017.00
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http://dx.doi.org/10.3389/fneur.2017.00505DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5649136PMC
September 2017

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.

Seizure 2017 Aug 15;50:80-82. Epub 2017 Jun 15.

Laboratory of Neurogenetics and Neuroscience, "G. Gaslini" Institute, Genova, Italy.

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http://dx.doi.org/10.1016/j.seizure.2017.06.011DOI Listing
August 2017

Pediatric status epilepticus: improved management with new drug therapies?

Expert Opin Pharmacother 2017 Jun 19;18(8):789-798. Epub 2017 May 19.

c Pediatric Neurology and Muscular Diseases Unit, DINOGMI-Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute , Genova , Italy.

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http://dx.doi.org/10.1080/14656566.2017.1323873DOI Listing
June 2017

mutations cause a specific recognizable X-linked intellectual disability syndrome.

Neurol Genet 2017 Jun 26;3(3):e159. Epub 2017 May 26.

Laboratory of Neurogenetics (P.S.), Istituto "Giannina Gaslini," Genova, Italy; and Pediatric Neurology and Muscular Diseases Unit (F.Z.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000159DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5446781PMC
June 2017

Clinical features and evolution of the gelastic seizures-hypothalamic hamartoma syndrome.

Epilepsia 2017 06;58 Suppl 2:12-15

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Institute "G. Gaslini", University of Genova, Genova, Italy.

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http://dx.doi.org/10.1111/epi.13753DOI Listing
June 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

Exploring the strengths and weakness of the ictal epileptic headache criteria.

Acta Paediatr 2017 05;106(5):694-695

Neuroscience Department, S. Anna Hospital, Como, Italy.

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http://dx.doi.org/10.1111/apa.13793DOI Listing
May 2017

Ictal blinking, an under-recognized phenomenon: our experience and literature review.

Neuropsychiatr Dis Treat 2017 31;13:1435-1439. Epub 2017 May 31.

Paediatric Operative Unit and Acute and Emergency, Policlinico-Vittorio Emanuele University Hospital, University of Catania, Catania, Italy.

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http://dx.doi.org/10.2147/NDT.S135979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5460649PMC
May 2017

Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy.

Brain Dev 2017 Apr 19;39(4):345-348. Epub 2016 Nov 19.

NICU, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano, Università degli Studi di Milano, Milan, Italy.

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http://dx.doi.org/10.1016/j.braindev.2016.10.015DOI Listing
April 2017

Early-Onset Epileptic Encephalopathy in infants with different forms of Congenital Disorders of Glycosylation (CDG).

Brain Dev 2017 04 4;39(4):366-367. Epub 2016 Dec 4.

Center for Metabolic Disease, Department of Pediatrics, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1016/j.braindev.2016.11.008DOI Listing
April 2017

Juvenile myoclonic epilepsy and Brugada type 1 ECG pattern associated with (a novel) plakophillin 2 mutation.

J Neurol 2017 Apr 20;264(4):792-795. Epub 2017 Feb 20.

Cardiovascular Genetics Centre, University of Girona-IDIBGI, Parc Científic UdG, Carrer Pic de Peguera 15, 17003, Girona, Spain.

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http://dx.doi.org/10.1007/s00415-017-8414-2DOI Listing
April 2017

Epilepsy: Common and rare epilepsies share genetic determinants.

Nat Rev Neurol 2017 Apr 10;13(4):200-201. Epub 2017 Mar 10.

Laboratory of Neurosciences and Neurogenetics, Department of Head and Neck Diseases, G. Gaslini Institute, Via Gaslini 5, 16147 Genova, Italy.

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http://dx.doi.org/10.1038/nrneurol.2017.30DOI Listing
April 2017

Electroclinical features of epilepsy in patients with InvDup(15).

Seizure 2017 Apr 9;47:87-91. Epub 2017 Mar 9.

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, G. Gaslini Institute, Genova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2017.03.006DOI Listing
April 2017

Risk factors for unprovoked epileptic seizures in multiple sclerosis: a systematic review and meta-analysis.

Neurol Sci 2017 Mar 4;38(3):399-406. Epub 2017 Jan 4.

Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Viale Europa, Catanzaro, Italy.

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http://dx.doi.org/10.1007/s10072-016-2803-7DOI Listing
March 2017

The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies.

Mov Disord 2017 03 16;32(3):310-318. Epub 2017 Jan 16.

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy.

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http://dx.doi.org/10.1002/mds.26901DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5359030PMC
March 2017

Update on pharmacotherapy of myoclonic seizures.

Expert Opin Pharmacother 2017 Feb 23;18(2):187-193. Epub 2017 Jan 23.

b Neurology Unit, Department of Medicine , Sant'Anna Hospital , Como , Italy.

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http://dx.doi.org/10.1080/14656566.2017.1280459DOI Listing
February 2017

Antiepileptic Drugs Under Investigation for Treatment of Focal Epilepsy.

Clin Neuropharmacol 2016 Nov/Dec;39(6):281-287

*Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy; †Neurology Unit, Sant' Anna Hospital, Como, Italy; and ‡Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1097/WNF.0000000000000180DOI Listing
January 2017

Early-Onset Shapiro Syndrome Variant Treated with Pizotifen: A Case Report.

Neurodiagn J 2017 ;57(2):139-146

a Child Neuropsychiatry Unit , Giannina Gaslini Pediatric Institute , Genoa , Italy.

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http://dx.doi.org/10.1080/21646821.2017.1309941DOI Listing
January 2017

Lafora disease.

Epileptic Disord 2016 Sep;18(S2):38-62

Program in Genetics and Genome Biology and Division of Neurology, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Canada.

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http://dx.doi.org/10.1684/epd.2016.0842DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5777303PMC
September 2016

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.

Mol Syndromol 2016 Sep 17;7(4):234-238. Epub 2016 Aug 17.

Laboratory of Neurogenetics, Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, University of Genoa, 'G. Gaslini' Institute, Genoa, Rome, Italy.

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http://dx.doi.org/10.1159/000448367DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5073591PMC
September 2016