Federico Zara

Federico Zara

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Federico Zara

Publications by authors named "Federico Zara"

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

Epilepsy Res 2019 Aug 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
August 2019

Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.

Neuropediatrics 2019 Aug 28;50(4):268-270. Epub 2019 May 28.

Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1055/s-0039-1688954DOI Listing
August 2019

Severe early-onset developmental and epileptic encephalopathy (DEE) associated with novel compound heterozygous pathogenic variants in SLC25A22: Case report and literature review.

Seizure 2019 Aug 27;70:56-58. Epub 2019 Jun 27.

Unit of Child Neuropsychiatry, Epilepsy Centre, Department of Medical and Surgical Neuroscience and Rehabilitation, IRCSS Istituto Giannina Gaslini, Genoa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2019.06.029DOI Listing
August 2019

Chiari malformation type I: what information from the genetics?

Childs Nerv Syst 2019 Aug 5. Epub 2019 Aug 5.

UOSD Laboratorio Neurogenetica e Neuroscienze, IRCCS Istituto Giannina Gaslini, v. G. Gaslini 5, 16147, Genoa, Italy.

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http://dx.doi.org/10.1007/s00381-019-04322-wDOI Listing
August 2019

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Nat Commun 2019 Jul 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

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http://dx.doi.org/10.1038/s41467-019-10910-wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6626132PMC
July 2019

Novel mutation in sarcotubular myopathy.

Acta Myol 2019 Jun 1;38(1):8-12. Epub 2019 Jun 1.

Pediatric Neurology and Neuromuscular Disorders, Istituto G. Gaslini and University of Genoa, Italy.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6598407PMC
June 2019

Migrating focal seizures in Autosomal Dominant Sleep-related Hypermotor Epilepsy with KCNT1 mutation.

Seizure 2019 Apr 7;67:57-60. Epub 2019 Mar 7.

Epilepsy Centre, Unit of Child Neuropsychiatry, Department of Medical and Surgical Neurosciences and Rehabilitation, IRCCS Giannina Gaslini Institute, Genoa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2019.02.019DOI Listing
April 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

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

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 J 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

Functional Connectivity and Genetic Profile of a "Double-Cortex"-Like Malformation.

Front Integr Neurosci 2018 12;12:22. Epub 2018 Jun 12.

Department of Medicine, Surgery and Neuroscience, Brain Investigation & Neuromodulation Laboratory, University of Siena, Siena, Italy.

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http://dx.doi.org/10.3389/fnint.2018.00022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6005822PMC
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

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

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.

Ital J Pediatr 2018 Apr 4;44(1):45. Epub 2018 Apr 4.

Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro", University of Palermo, Via A. Giordano 3, 90127, Palermo, Italy.

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http://dx.doi.org/10.1186/s13052-018-0483-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5885309PMC
April 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

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

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

CHD2 mutations: Only epilepsy? Description of cognitive and behavioral profile in a case with a new mutation.

Seizure 2017 Oct 6;51:186-189. Epub 2017 Sep 6.

Department of Neuroscience, Reproductive and Odontostomatological Sciences, Epilepsy Centre, Federico II University, Naples, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.seizure.2017.09.001DOI 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

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

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

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

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

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

The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations.

Neurobiol Dis 2017 Mar 20;99:66-83. Epub 2016 Dec 20.

Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Largo Rosanna Benzi 10, 16132 Genova, Italy; Department of Experimental Medicine, University of Genova, Viale Benedetto XV, 3, 16132 Genova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2016.12.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5321265PMC
March 2017

Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.

Am J Med Genet A 2016 12 19;170(12):3207-3214. Epub 2016 Aug 19.

Department of Experimental Medicine, University of Genova, Genova, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37933DOI Listing
December 2016

PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function.

Trends Neurosci 2016 10 10;39(10):668-679. Epub 2016 Sep 10.

San Raffaele Scientific Institute and Vita Salute University, Via Olgettina 58, 20132 Milano, Italy.

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http://dx.doi.org/10.1016/j.tins.2016.08.005DOI Listing
October 2016

Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis.

Epileptic Disord 2016 Sep;18(S2):120-127

Department of Neurosciences, 'G. Gaslini' Institute, Genova, Italy.

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http://dx.doi.org/10.1684/epd.2016.0857DOI Listing
September 2016

Autosomal dominant cortical tremor, myoclonus and epilepsy.

Epileptic Disord 2016 Sep;18(S2):139-144

Department of Neurosciences, G. Gaslini Institute, University of Genoa, Genoa, Italy.

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http://dx.doi.org/10.1684/epd.2016.0860DOI Listing
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

17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.

Brain Dev 2016 Aug 17;38(7):663-8. Epub 2016 Feb 17.

Epilepsy Centre, Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.

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http://dx.doi.org/10.1016/j.braindev.2016.02.002DOI Listing
August 2016

White matter involvement in a family with a novel PDGFB mutation.

Neurol Genet 2016 Jun 5;2(3):e77. Epub 2016 May 5.

Dubowitz Neuromuscular Service (R.B.), UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom; Unit of Neuroradiology (M.S.), Laboratorio di Neurogenetica e Neuroscienze (A.R., M.I., F.Z.), "G. Gaslini" Institute, Genova, Italy; Neurology Unit (M.D.S.), E.O. Galliera Hospital, Genova, Italy; Pediatric Neurology and Muscular Diseases Unit (C.M.), Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, "G. Gaslini" Institute, Genova, Italy; and Department of Advanced Biomedical Sciences (M.C., M.D.B.D.C.), Federico II University, Naples, Italy.

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http://dx.doi.org/10.1212/NXG.0000000000000077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867655PMC
June 2016

Management of genetic epilepsies: From empirical treatment to precision medicine.

Pharmacol Res 2016 05 11;107:426-429. Epub 2016 Apr 11.

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

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http://dx.doi.org/10.1016/j.phrs.2016.04.006DOI Listing
May 2016

PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery.

Cell Rep 2016 Apr 24;15(1):117-131. Epub 2016 Mar 24.

Department of Experimental Medicine, University of Genova, Viale Benedetto XV, 3, 16132 Genova, Italy; Center for Synaptic Neuroscience and Technology, Istituto Italiano di Tecnologia, Largo Rosanna Benzi 10, 16132 Genova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.03.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4826441PMC
April 2016

Genetics of reflex seizures and epilepsies in humans and animals.

Epilepsy Res 2016 Mar 2;121:47-54. Epub 2016 Feb 2.

Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Viale Europa, Catanzaro, Italy; Institute of Molecular Bioimaging and Physiology of the National Research Council (IBFM-CNR), Viale Europa, Catanzaro, Italy; Regional Epilepsy Centre, Bianchi-Melacrino-Morelli Hospital, Reggio Calabria, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2016.01.010DOI Listing
March 2016

Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation.

Brain Dev 2016 Jan 23;38(1):128-31. Epub 2015 Jul 23.

Pediatric Neurology and Muscular Diseases Unit, Laboratory of Neurogenetics, Institute "G. Gaslini", Genoa, Italy.

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http://dx.doi.org/10.1016/j.braindev.2015.07.002DOI Listing
January 2016

Xp11.22 Microduplications Including HUWE1: Case Report and Literature Review.

Neuropediatrics 2016 Jan 20;47(1):51-6. Epub 2015 Nov 20.

Child Neuropsychiatry Unit, Mother and Child Department, University-Hospital of Parma, Parma, Italy.

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http://dx.doi.org/10.1055/s-0035-1566233DOI Listing
January 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

CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures.

Epilepsy Behav 2015 Oct 7;51:53-6. Epub 2015 Aug 7.

Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yebeh.2015.06.029DOI Listing
October 2015

Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy.

Epilepsia 2015 Sep 15;56(9):e129-33. Epub 2015 Jul 15.

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

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http://dx.doi.org/10.1111/epi.13076DOI Listing
September 2015

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability.

Epilepsia 2015 Feb 19;56(2):e15-20. Epub 2014 Dec 19.

Unit of Pharmacology, Department of Neuroscience, Reproductive Science and Dentistry, University of Naples Federico II, Naples, Italy.

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http://dx.doi.org/10.1111/epi.12887DOI Listing
February 2015

Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.

Neurology 2014 Jun 7;82(22):2003-6. Epub 2014 May 7.

From the Department of Neurophysiopathology and Epilepsy Centre (L.C., F.P., S.F.), Department of Neurology (D.P., L.N.), Laboratory of Cognitive Neurology and Rehabilitation, Neurology and Neuropathology Unit (A.R.G.), and Biochemistry and Genetics Department (A.V., C.G.), IRCCS Foundation C. Besta Neurological Institute, Milan; and Laboratory of Neurogenetics (A.R., F.Z.), Department of Neuroscience, Institute G. Gaslini, Genoa, Italy.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000048
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http://dx.doi.org/10.1212/WNL.0000000000000482DOI Listing
June 2014

Genetic heterogeneity in malignant migrating partial seizures of infancy.

Ann Neurol 2014 Feb 2;75(2):324-6. Epub 2014 Jan 2.

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

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http://dx.doi.org/10.1002/ana.24061DOI Listing
February 2014

Progressive myoclonic epilepsies: definitive and still undetermined causes.

Neurology 2014 Feb 2;82(5):405-11. Epub 2014 Jan 2.

From the Department of Neurophysiopathology and Epilepsy Centre (S.F., L.C., E.V., F.P., G.A.), IRCCS Foundation C. Besta Neurological Institute, Milan; Unit of Neurology (R.M.), 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 Medical and Surgical Sciences (A.G., E.F.), Magna Graecia University, Catanzaro; Institute of Neurological Sciences (A.G.), National Research Council, Mangone, Cosenza; Epilepsy Centre (A.M.), Department of Neuroscience, University of Messina; IRCCS Institute of Neurological Sciences and Department of Biomedical and Neuromotor Sciences (P.T.), University of Bologna; Epilepsy Centre (A.L.N.), Azienda Ospedaliero Universitaria Consorziale, Dipartimento di Scienze Mediche di Base, Neuroscienze ed Organi di Senso, Policlinico, Bari; Child Neurology Unit (G.G.), IRCCS delle Scienze Neurologiche, Bologna; Department of Neurology and Psychiatry (A.T.G.), Neurology Unit, La Sapienza University, Rome; Epilepsy Center (G.C.), Department of Child Neuropsychiatry, C. Poma Hospital, Mantua; University of Bologna (C.A.T.); Department of Neurology and Epilepsy Centre (A.B.), San Donato Hospital, Arezzo; and Istituto Gaslini (F.Z.), Laboratory of Neurogenetics, Genoa, Italy. Coinvestigators are listed on the Neurology® Web site at www.neurology.org.

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http://dx.doi.org/10.1212/WNL.0000000000000077DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917687PMC
February 2014

The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy.

Ann Neurol 2014 Jan 2;75(1):77-87. Epub 2014 Jan 2.

Center for Translational Genomics and Bioinformatics, San Raffaele Scientific Institute, and Vita-Salute San Raffaele University, Milan, Italy.

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http://doi.wiley.com/10.1002/ana.24028
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http://dx.doi.org/10.1002/ana.24028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3932827PMC
January 2014

Neurological features and long-term follow-up in 15q11.2-13.1 duplication.

Eur J Med Genet 2013 Nov 25;56(11):614-8. Epub 2013 Sep 25.

Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK; Epilepsy Society, Chesham Lane, Chalfont St Peter, Bucks, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.08.008DOI Listing
November 2013

Genetic epileptic encephalopathies: is all written into the DNA?

Epilepsia 2013 Nov;54 Suppl 8:22-6

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

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http://dx.doi.org/10.1111/epi.12419DOI Listing
November 2013

Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy.

Brain 2013 Oct 25;136(Pt 10):e253. Epub 2013 Jun 25.

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

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http://dx.doi.org/10.1093/brain/awt140DOI Listing
October 2013

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Brain 2013 Oct 6;136(Pt 10):3140-50. Epub 2013 Sep 6.

1 NIHR University College London Hospitals Biomedical Research Centre, Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

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https://academic.oup.com/brain/article/136/10/3140/330027
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http://dx.doi.org/10.1093/brain/awt233DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784283PMC
October 2013

Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.

Epilepsy Res 2013 Aug 25;105(3):415-8. Epub 2013 Mar 25.

Child Neurology, NESMOS Department, Faculty of Medicine and Psychology, "Sapienza University", Rome, Italy.

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http://dx.doi.org/10.1016/j.eplepsyres.2013.02.024DOI Listing
August 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