ATP1A3 Symposium 2013 | Rome, Italy

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Monday, September 23rd

11:00 Registration Opens
12:00 Welcoming address
Giovanni Neri and David Goldstein
12:15 Clinical and genetic aspects of AHC
Moderator Edvige Veneselli
12:15 Clinical outcome measures and biomarkers for AHC patients
Mohamed Mikati
12:45 International collaborative group on genotype/phenotype correlations
Alexis Arzimanoglou and Eleni Panagiotakaki
13:15 Lunch
14:15 Clinical aspects of AHC in different patients’ groups
Moderator Fiorella Gurrieri
14:15 Catastrophic outcomes in AHC: an overview of clinical features and neuropathologic findings from the U.S/International AHCF database
Katryn Swoboda
14:35 Genotype/phenotype correlation in Japanese patients with AHC
Masayuki Sasaki
14:55 Natural history of the disease
Giuseppe Gobbi
15:15 A brief genetic update on AHC and RDP
Hendrik Rosewich
15:35 Imaging Results in RDP Provide Potential Insights
Allison Brashear
15:55 Coffee break and poster session
16:45 Functional studies of ATPase
Moderator Boukje de Vries
16:45 Genetic variation in ATP1A3 in neurological, developmental and neuropsychiatric diseases
Erin Heinzen
17:05 Structural and biochemical studies addressing the AHC mutations
Poul Nissen
17:25 Electrophysiological studies of sodium pump mutants
Hanne Poulsen
17:45 The role of Institutions and Patients’ Associations  in the support of the Collaborative Research on AHC
Moderator Dominique Poncelin
17:45 Telethon Italy and the alliance with the patients in the support to the research on rare genetic diseases
Francesca Sofia
18:00 The Message from the AHC Families Worldwide
Jeff Wuchich
18:15 The International Patient Alliance AHCIA
Lynn Egan
18:25 The European Federation AHCFE
Sigurdur Hólmar Johannesson
18:35 The European Network for Research on Alternating Hemiplegia, ENRAH: ten years of facilitating clinical and basic science research on AHC
Tsveta Schyns
18:45 Breaking News
19:30 End
20:30 Social Dinner
Tuesday, September 24th

 8:30 ATP1A3opathies modeling
Moderator Steven Clapcote
 8:30 The myshkin mouse
Steven Clapcote
 9:00 A knock-in mouse model for RDP/AHC
Karin Lykke Hartmann
9:30 Oocyte modeling of ATP1A3 mutations
Steve Petrou
10:00 The knock-in mouse model
Mohammed Mikati
10:30 Structure-function studies and symptoms in a mutant mouse
Kathy Sweadner
11:00 Coffee Break
11:30 Pharmacologic modulation of ATPases activity
Moderator Danilo Tiziano
11:30 Endogenous Ouabain and ATPase: possibile implications for Rostafuroxin
Paolo Manunta
12:00 AMPK activators as potential candidates to the treatment of AHC
Alexander Chibalin
12:30 Binding of digitalis-like compounds to Na,K-ATPase
Jan Koenderink
13:00 Lunch
14:00 Round table: Clinical trials
Moderator Federico Vigevano
14:00 Are we ready for clinical trials?
Tiziana Granata
14:15 General discussion
Mohammed Mikati, Eleni Panagiotakaki, Masayuki Sasaki, Paolo Manunta, Jan Koenderink, Alexander Chibalin, others ….
15:00 Conclusions and future priorities
David Goldstein
15:15 The Global Alliance for the Cure and the Care of the Patients
Rosaria Vavassori
15:30 End

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