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Program

Wednesday, April 28, 2010

16:00 - 18.00
Participant registration

18:00 - 20:00
Introductory session
Chairs: Eva Andermann and Giuliano Avanzini

18:00 - 18:20
What are progressive myoclonus epilepsies?
Giuliano Avanzini
Department of Experimental Research and Diagnostics
Fondazione IRCCS Istituto Neurologico “C. Besta”
Milan, Italy

18:25 - 18:45
The history of progressive myoclonus epilepsies
Frederick Andermann
Epilepsy Service and Seizure Clinic
Montreal Neurological Hospital & Institute
Departments of Neurology & Neurosurgery and Pediatrics
McGill University
Montreal, Canada

18:50 - 19:10
The pre-molecular era : the Marseille conference and classification of the PME's
Pierre Genton
Centre Saint-Paul - Hôpital Henri Gastaut
Marseille, France

Samuel Berkovic
Epilepsy Research Centre
Department of Medicine, University of MelbourneHeidelberg Repatriation HospitalAustin Health
Melbourne, Australia

19:15 - 19:35
The genetic/post-genetic era
Berge Minassian
Division of Neurology
The Hospital for Sick Children
Toronto, Canada

19:40 - 20:00
Presentation of the symposium
Eva Andermann
Neurogenetics Unit
Montreal Neurological Hospital & Institute
Departments of Neurology & Neurosurgery and Human Genetics
McGill University
Montreal, Canada

20:00 – 21.30
Welcome Buffet

21.30-22.00
“Lectio magistralis “
Neuro-archaeology: pre-symptomatic electrical and architectural signatures of neurological disorders Yehezkel Ben-Ari
INMED - INSERM U901
Parc Scientifique de Luminy
Marseille, France

Thursday, April 29, 2010

8.00 - 9.00
Participant registration

Session I
Unverricht-Lundborg disease
Chairs: Pierre Genton and Anna-Elina Lehesjoki

9:00 - 9:20
Clinical presentation and prognosis
Pierre Genton
Centre Saint-Paul - Hôpital Henri Gastaut
Marseille, France

9:25 - 9:45
Neuropsychological profile
Edoardo Ferlazzo
IRCCS Centro Neurolesi "Bonino-Pulejo"
Messina, Italy

9:50 - 10:10
The cystatin B gene and protein
Anna-Elina Lehesjoki
Folkhälsan Institute of Genetics and Neuroscience Center
University of Helsinki
Helsinki, Finland

10:15 – 10:35
Molecular epidemiology of EPM1 and genotype-phenotype correlations
Eva Andermann
Neurogenetics Unit
Montreal Neurological Hospital & Institute
Departments of Neurology & Neurosurgery and Human Genetics
McGill University
Montreal, Canada

10:40 - 11:00
Coffee break

Chairs: Amos Korczyn and Adriana Magaudda

11:00 - 11:15
The Finnish EPM1 study
Reetta Kalviainen
Kuopio Epilepsy Center
Kuopio University Hospital
Kuopio, Finland

11:20 - 11:35
PME1: the Maghrebian experience
Riadh Gouider
Neurology Department
Razi Hospital La Manouba
Tunis, Tunisia

11:40 – 12:45
Non-EPM1 cases and families

Progressive myoclonic epilepsies in Israel Unverricht-Lundborg disease and its new variant - Non EPM1
Zaid Afawi
Genetics of Epilepsy Research in Israel
Tel-Aviv University Medical School
Tel Aviv, Israel

Unverricht-Lundborg-like cases without cystatin b mutations: the Bologna series
Roberto Michelucci
Unit of Neurology
Department of Neurosciences
Bellaria Hospital
Bologna, Italy

Edoardo Ferlazzo
IRCCS Centro Neurolesi "Bonino-Pulejo"
Messina, Italy

Cigdem Ozkara
Cerrahpa?a Medical Faculty
Department of Neurology
Istanbul, Turkey

Eva Andermann
Neurogenetics Unit
Montreal Neurological Hospital & Institute
Departments of Neurology & Neurosurgery and Human Genetics
McGill University
Montreal, Canada

12:50 – 14:00
Lunch

Chairs: Silvana Franceschetti and Hyman Schipper

14:00 – 14:20
The Cstb gene knockout mouse: A model of Unverricht-Lundborg (EPM1) disease
Silvana Franceschetti
Division of Neurophysiopathology
Fondazione IRCCS Istituto Neurologico “C. Besta”
Milan, Italy

14:25 – 14:45
Biochemical changes in ULD models
Annika Vaarmann
Department of Pharmacology
Faculty of Medicine
University of Tartu
Tartu, Estonia

14:50 - 15:10
Essentials of Redox Neurology
Hyman Schipper
Centre for Neurotranslational Research
Lady Davis Institute for Medical Research
Jewish General Hospital
Montreal, Canada

15:15- 15:35
Oxidative stress in ULD models
Maria Lehtinen
Division of Genetics
HHMI/Children's Hospital Boston
Harvard Medical School
Boston, USA

Session II
Lafora body disease
Chairs: José Serratosa and Stirling Carpenter

15:40 - 16:00
Lafora disease: Clinical presentation and prognosis
José Serratosa
Servicio de Neurología
Fundación Jiménez Díaz
Madrid, Spain

16:05 - 16:25
Pathology in humans and in animal models

Pathology of Lafora disease
Stirling Carpenter
Instituto de Patologia e Imunologia Molecular da Universidade do Porto
Department of Anatomic Pathology
Hospital São João
Porto, Portugal

Animal models of Lafora disease
Cameron Ackerley
Department of Pathology and Laboratory Medicine
Hospital for Sick Children
Toronto, Canada

16:30 - 16:50
Coffee break

16:50 - 17:10
Lafora progressive myoclonus epilepsy mutation

Database: EPM2A and NHLRC1 (EPM2B) Genes
Berge Minassian
Division of Neurology
The Hospital for Sick Children
Toronto, Canada

Leonarda Ianzano
DIBIT
University Vita-Salute San Raffaele
Milan, Italy

17:15 - 17:35
Molecular epidemiology and genotype-phenotype correlations
Anna Jansen
Dienst Kinderneurologie
UZ Brussel
Brussels, Belgium

17:40 - 19:30
ROUND TABLE: Mechanisms of Lafora disease
Chairs: Peter Roach and Berge Minassian

17:40 - 17:55
Absence of laforin-malin causes polyglucosans by upregulating glycogen synthase and PTG

Joan Guinovart
Confederation of Spanish Scientific Societies
Institute for Research in Biomedicine
University of Barcelona
Barcelona, Spain

Santiago Rodriguez de Cordoba
Departamento de Medicina Celular y Molecular
Centro de Investigaciones Biologicas (CSIC)
Madrid, Spain

18:00 – 18:15
Glycogen phosphorylation and Lafora disease

Vincent Tagliabracci
Department of Biochemistry and Molecular Biology
Indiana University
School of Medicine
Indianapolis, USA

Jean Marie Girard
SickKids Research Institute Program in Genetic and Genomic Biology
The Hospital for Sick Children
Toronto, Canada

18:20 - 18:30
Role of protein targeting to glycogen (PTG) in Lafora disease
Anna DePaoli-Roach
Departments of Biochemistry and Molecular Biology
Indiana University School of Medicine
Indianapolis, USA

18:35 - 18:45
Structural insights into the glucan phosphatase laforin
Matthew Gentry
Department of Molecular and Cellular Biochemistry
University of Kentucky College of Medicine
Lexington, USA

18:50 - 19:00
Laforin-malin act as suppressors of misfolded protein accumulation
Subramanian Ganesh
Department of Biological Sciences and Bioengineering
Indian Institute of Technology
Kanpur, India

19:05 - 19:15
The genetics of a novel form of Lafora disease
Julie Turnbull
Division of Neurology
The Hospital for Sick Children
Toronto, Canada

19:20 - 19:30
Summary: "In the midst of the storm before the calm" : The current turbulent state of knowledge in Lafora disease
Berge Minassian
Division of Neurology
The Hospital for Sick Children
Toronto, Canada

20:00-22:00
Dinner

Friday, April 30, 2010

Session III
The action myoclonus-renal failure syndrome (AMRF)
Chairs: Samuel Berkovic and Antonio Federico

09:00 - 09:20
Clinical presentation, epidemiology and genetics
Eva Andermann
Neurogenetics Unit
Montreal Neurological Hospital & Institute
Departments of Neurology & Neurosurgery and Human Genetics
McGill University
Montreal, Canada

09:25 - 09:45
The pathology of the action myoclonus-renal failure syndromeStirling Carpenter
Institute de Patologia e Imunologia Molecular of the University of Porto
Department of Anatomic Pathology
Hospital São João
Porto, Portugal

09:50 - 10:10
SCARB2/LIMP-2 deficiency in AMRF

Leanne Dibbens
Department of Genetic Medicine
Women's and Children's Hospital
North Adelaide, Australia

Samuel Berkovic
Epilepsy Research Centre
Department of Medicine, University of Melbourne;Heidelberg Repatriation HospitalAustin Health
Melbourne, Australia

10:15 - 10:35
New insights into the molecular mechanisms of AMRF
Michael Schwake
Department of Biochemistry
Medical Faculty
Christian-Albrechts-University of Kiel
Kiel, Germany

10:40 - 11:00
Coffee break

Session IV
The neuronal ceroid lipofuscinoses (NCL)
Chairs: Mark Gardiner and Frederick Andermann

11:00 - 11:20
Clinical features in human NCL

Frederick Andermann
Epilepsy Service and Seizure Clinic
Montreal Neurological Hospital & Institute
Departments of Neurology & Neurosurgery and Pediatrics
McGill University
Montreal, Canada

Berge Minassian
Division of Neurology
The Hospital for Sick Children
Toronto, Canada

11:25 - 11:45
Epidemiology and prevalence
Eva Andermann
Neurogenetics Unit
Montreal Neurological Hospital & Institute
Departments of Neurology & Neurosurgery and Human Genetics
McGill University
Montreal, Canada

11:50 - 12:10
Pathology of human neuronal ceroid –lipofuscinoses
Hans H. Goebel
Department of Neuropathology
Johannes Gutenberg University
Mainz, Germany

12:15 - 12:35
The genetic spectrum of human NCL
Sara Mole
MRC Laboratory for Molecular Cell Biology
University College London
London, UK

12:40 - 13:00
Pathogenic mechanisms of NCL
Hannah Mitchison
Molecular Medicine Unit
Institute of Child Health
University College London (UCL)
London, UK

13:05-14:30
Lunch

Session V
PMEs in lysosomal disorders
Chairs : Edwin H. Kolodny and Eva Andermann

14:30 - 14:50
Myoclonus and lysosomal diseases
Antonio Federico
U.O. Neurologia e Malattie Neurometaboliche
Università degli Studi di Siena
Siena, Italy

14:55 - 15:15
Clinical and molecular features of type I and type II sialidosis
Nicole Baumann
Laboratoire de Neurochimie
Hôpital de la Salpetrière
Paris, France

Session VI
Other PMEs
Chairs : Eva Andermann and Amel Mrabet

15:20 - 15:40
Mitochondrial disorders associated with PME
Massimo Zeviani
Department of Experimental Research and Diagnostics
Fondazione IRCCS Istituto Neurologico “C. Besta”
Milan, Italy

15:45 – 16:05
Neuroserpinoses
Damian Crowther
Fellow, Trinity Hall
Cambridge Institute for Medical Research
University of Cambridge
Cambridge, UK

16:10 - 16:30
Gaucher's disease (type III)
Edwin H. Kolodny
Division of Neurogenetics
New York University Medical Center
New York, USA

16:35 – 16:55
PME in Down's syndrome and Alzheimer disease

Roberto De Simone
Epilepsy and Sleep Disorders Center
Department of Neurology
S. Eugenio Hospital
Rome, Italy

Pierre Genton
Centre Saint-Paul
Hôpital Henri Gastaut
Marseille, France

17:00 – 17:20
Coffee break

17:20 – 17:40
FAME and related disorders

Pasquale Striano
Muscular and Neurodegenerative Diseases Unit
"G. Gaslini" Institute
Genova, Italy

Federico Zara
Laboratory of NeurogeneticsDepartment of Neuroscience“G. Gaslini” Institute
Genova, Italy

17:45 - 18:15
Other progressive myoclonus epilepsies
Samuel Berkovic
Epilepsy Research Centre
Department of Medicine, University of Melbourne;Heidelberg Repatriation Hospital,Austin Health
Melbourne, Australia

Session VII
Neurophysiology and neuroimaging in PMEs
Chairs : Renzo Guerrini and Esa Mervaala

18:20 – 19:05

Neurophysiology of PMEs

Different neurophysiological patterns in PME subtypes
Laura Canafoglia
Department of Clinical Neurophysiology
Fondazione IRCCS Istituto Neurologico “C. Besta”
Milan, Italy

Mechanisms of generalized convulsions in PMEs
Guido Rubboli
Neurology Unit-Department of Neurosciences
Bellaria Hospital
Bologna, Italy

Neurophysiology of EPM1
Esa Mervaala
Department of Clinical Neurophysiology
Kuopio University Hospital
Kuopio, Finland

19:10 - 19:55
Neuroimaging of PMEs

Ritva Vanninen
Department of Clinical Radiology
Kuopio University Hospital
Kuopio, Finland

Neuroimaging in Lafora disease
Vincente Villanueva
Epilepsy Unit
Neurology Service
Hospital La Fe
Valencia, Spain

Neuroradiological findings in Unverricht-Lundborg disease
Miikka Korja
Department of Neurosurgery
Helsinki University Central Hospital
Helsinki, Finland

Saturday, May 1, 2010

Session VIII
Common physiopathological mechanisms
Chairs : Giuliano Avanzini and Yehezkel Ben-Ari

09:00 - 09:20
Ion channels
Giuliano Avanzini
Department of Experimental Research and Diagnostics
Fondazione IRCCS Istituto Neurologico “C. Besta”
Milan, Italy

09:25 - 09:45
How seizures beget seizures? Cell death or alterations of developmental programs?
Yehezkel Ben-Ari
INMED - INSERM U901
Parc Scientifique de Luminy
Marseille, France

09:50 - 10:10
Molecular mechanisms in the PME's
Berge Minassian
Division of Neurology
The Hospital for Sick Children
Toronto, Canada

10:15 - 10:35
Coffee break

Session IX
Differential diagnosis
Chairs: Reetta Kalviainen and Pierre Thomas

10:40 - 11:00
Idiopathic myoclonic epilepsies
Pierre Thomas
UF EEG-Epileptologie
Service Neurologie Pav. F
Hôpital Pasteur
Nice, France

11:05 - 11:25
Epileptic encephalopathies with myoclonus and progressive myoclonus epilepsies
Charlotte Dravet
Department of Child Neurology and Psychiatry
Catholic University School of Medicine
Rome, Italy

11:30 - 11:50
Movement disorders with myoclonus
Nardo Nardocci
Division of Child Neurology
Fondazione IRCCS Istituto Neurologico “C. Besta”
Milan, Italy

Session X
Diagnostic guidelines
Chairs: Pierre Genton and Alberto Tassinari

11:55 – 13:00
ROUND TABLE: Guidelines for the diagnostic work-up

11:55 – 12:05
Samuel Berkovic
Epilepsy Research Centre
Department of Medicine, University of Melbourne;Heidelberg Repatriation Hospital,Austin Health
Melbourne, Australia

12:05 – 12:15
Reetta Kalviainen
Kuopio Epilepsy Center
Kuopio University Hospital
Kuopio, Finland

12:15 – 12:25
Parthasarthy Satishchandra
Department of Neurology
National Institute of Mental Health and Neuro Sciences (NIMHANS)
Bangalore, India

12:25 – 12:35
Pierre Genton
Centre Saint-Paul
Hôpital Henri Gastaut
Marseille, France

12:35 – 12:45
A transverse genetic trait: epilepsy in Unverricht Lundborg (PME 1) and Lafora body diseases has the features of “primary generalized” or “idiopathic” epilepsy
Carlo Alberto Tassinari
University of Bologna
Bologna, Italy

12:45 – 12:55
Summary
Pierre Genton
Centre Saint-Paul
Hôpital Henri Gastaut
Marseille, France

13:00 - 14:15
Lunch

Session XI
Treatment guidelines
Chairs: Eva Andermann and Roberto Michelucci

14:15 - 14:35
Genetic counselling in the PME's
Eva Andermann
Neurogenetics Unit
Montreal Neurological Hospital & Institute
Departments of Neurology & Neurosurgery and Human Genetics
McGill University
Montreal, Canada

14:40 - 15:00
Pharmacology of myoclonus and symptomatic treatment
Roberto Michelucci
Unit of Neurology
Department of Neurosciences
Bellaria Hospital
Bologna, Italy

15:05 - 15:25
Therapeutic trials in orphan conditions, eg ULD

Reetta Kalviainen
Kuopio Epilepsy Center
Kuopio University Hospital
Kuopio, Finland

Pierre Genton
Centre Saint-Paul - Hôpital Henri Gastaut
Marseille, FranceEva Andermann
Neurogenetics Unit
Montreal Neurological Hospital & Institute
Departments of Neurology & Neurosurgery and Human Genetics
McGill University
Montreal, Canada

15:30-15:50
Coffee break

15:50 - 17:25
ROUND TABLE:
New perspectives in therapy
Chairs: Antonio Delgado-Escueta and Berge Minassian

IV Gentamicin compassionate use in laforin nonsense mutations causing Lafora epilepsy
Antonio Delgado-Escueta
David Geffen School of Medicine
University of California
Los Angeles, USA

Progress in gene therapy in an animal model of Lafora disease: Non-viral gene delivery to the EPM2a-knockout mouse brain
Eain Cornford
Department of Neurology
Brain Research Institute
UCLA School of Medicine
Los Angeles, USA

RNAi and ULD

Maria Lehtinen
Division of Genetics
HHMI/Children's Hospital Boston
Harvard Medical School
Boston, USA

Anna-Elina Lehesjoki
Folkhälsan Institute of Genetics and Neuroscience Center
University of Helsinki
Helsinki, Finland

Enzyme replacement therapy
Edwin H. Kolodny
Division of Neurogenetics
New York University Medical Center
New York, USA

VNS and deep brain stimulation
Arielle Crespel

17:30 - 18:00
Conclusion of the symposium
Eva Andermann and Giuliano Avanzini

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