ATP1A3 Symposium 2013 | Rome, Italy

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Session
Clinical and genetic aspects of AHC
Moderator Edvige Veneselli
Clinical outcome measures and biomarkers for AHC patients (Abstract)
Mohamed Mikati
Open
International collaborative group on genotype/phenotype correlations
Alexis Arzimanoglou and Eleni Panagiotakaki
Session
Clinical aspects of AHC in different patients’ groups
Moderator Fiorella Gurrieri
Catastrophic outcomes in AHC: an overview of clinical features and neuropathologic findings from the U.S/International AHCF database
Katryn Swoboda
Genotype/phenotype correlation in Japanese patients with AHC
Masayuki Sasaki
Natural history of the disease
Giuseppe Gobbi
A brief genetic update on AHC and RDP
Hendrik Rosewich
Imaging Results in RDP Provide Potential Insights
Allison Brashear
Session
Posters
Na+/K+-ATPase as a target for cisplatin
Martin Kubala
Atp1a3-deficient heterozygous mice show shorter stride and fall latency in hanging box in chronic stress condition
Kiyoshi Kawakami
Alternating hemiplegia in childhood – clinical and genetic study
David Kemlink
Establishing a diagnosis and global care national network, for the benefit of patients with a rare neurological disorder
Gaetan Lesca
Mutations of ATP1A3 cause rapid-onset dystonia with parkinsonism (RDP) and alternating hemiplegia of childhood (AHC)
Keiko Ikeda
ATP1A3 gene mutations: broadening the clinical spectrum
Elisa De Grandis
A national Registry-Based Network for the Research and the Care of the patients affected by Alternating Hemiplegia of Childhood
Rosaria Vavassori
Open
The Italian White Book and Guidelines for Alternating Hemiplegia: an essential tool for the comprehensive care
Francesca Ragona
AHC Multidisciplinary Clinic
Jeffrey Wuchich
Open
Session
Functional studies of ATPase
Moderator Boukje de Vries
Genetic variation in ATP1A3 in neurological, developmental and neuropsychiatric diseases
Erin Heinzen
Open
Structural and biochemical studies addressing the AHC mutations
Poul Nissen
Electrophysiological studies of sodium pump mutants
Hanne Poulsen
Session
The role of Institutions and Patients’ Associations in the support of the Collaborative Research on AHC
Moderator Dominique Poncelin
Telethon Italy and the alliance with the patients in the support to the research on rare genetic diseases
Francesca Sofia
The Message from the AHC Families Worldwide (Video)
Jeff Wuchich
Open
The International Patient Alliance AHCIA (Video)
Lynn Egan
The AHC Federation of Europe AHCFE (Video)
Sigurdur Hólmar Johannesson
Open
The European Network for Research on Alternating Hemiplegia, ENRAH: ten years of facilitating clinical and basic science research on AHC
Tsveta Schyns
Session
Breaking News
Moderator Rosaria Vavassori
The p.D923N ATP1A3 mutation causes Alternating Hemiplegia of Childhood and Rapid Onset Dystonia-Parkinsonism phenotypes
Anne Roubergue
Open
Impaired control of intracellular sodium in primary neurons expressing alpha3 rapid-onset dystonia-parkinsonism mutants
Evgeny E. Akkuratov
Genotype – Phenotype Correlation in an Italian cohort of 33 Alternating Hemiplegia of Childhood patients: preliminary results
Michela Stagnaro
A case of Alternating Hemiplegia of Childhood: Clinical and Brain H1 MRI Spectroscopy Findings
Antonio Petrucci
Session
ATP1A3opathies modeling
Moderator Steven Clapcote
The myshkin mouse
Steven Clapcote
A knock-in mouse model for RDP/AHC
Karin Lykke Hartmann
Oocyte modeling of ATP1A3 mutations
Steve Petrou
The knock-in mouse model
Mohammed Mikati
Structure-function studies and symptoms in a mutant mouse
Kathy Sweadner
Session
Pharmacologic modulation of ATPases activity
Moderator Danilo Tiziano
Endogenous Ouabain and ATPase: possibile implications for Rostafuroxin
Paolo Manunta
AMPK activators as potential candidates to the treatment of AHC
Alexander Chibalin
Binding of digitalis-like compounds to Na,K-ATPase
Jan Koenderink
Session
Round table: Clinical trials
Moderator Federico Vigevano
Are we ready for clinical trials?
Tiziana Granata
General discussion
Mohammed Mikati, Eleni Panagiotakaki, Masayuki Sasaki, Paolo Manunta, Jan Koenderink, Alexander Chibalin, others ….
Session
Conclusions
Conclusions and future priorities
David Goldstein
Open
The Global Alliance for the Cure and the Care of the Patients
Rosaria Vavassori
Open
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