Wednesday, 24th August, 2016
19.00 P.M. – 22.00 P.M. Welcome to London
The Holiday Inn Bloomsbury, 1st Floor Reception Area
19:00-21:30 Registration & Buffet
19:45 Welcome Speech – AHCUK
19:50 Opening Message – Sanjay Sisodiya, Chair 5th Symposium
20:00 Victoria A. Platt – Secretary AHC Foundation, USA
A presentation of the topics and discussions raised at the July 2016 AHCF Family Meeting in Indianapolis, Indiana, USA
20:15 Sigurdur Holmar Jóhannesson – President, AHC Federation of Europe. AHC today and in the future.
20:30-22:00 Interaction and discussions with AHC Family Associations
Thursday, 25 August 2016
Morning session: Clinical developments in ATP1A3-related disease
Chairs: Helen Cross, GOSH, London &Mohamad Mikati, Duke, USA
09:00 Allison Brashear,
Wake Forest School of Medicine, USA
Massachusetts General Hospital and Harvard Medical School, USA
Plenary Introduction: Where we are in ATP1A3-related disease today?
09:45 Diane Doummar, Hospital Armand Trousseau, Paris, France Encephalopathies associated with ATP1A3 mutation
10:00 Hendrik Rosewich,
Medical University Göttingen, Germany CAPOS
10:15 Madeleine Scharf,
Inst. of Experimental Immunology, Lübeck, Germany Neuronal Na+/K+ ATPase as an autoantibody target in paraneoplastic neurologic syndrome
10.30 Coffee Break
11:00 What are the clinical events in ATP1A3-related disease?
Chairs: Hendrik Rosewich, Medical University Göttingen, Germany and Sanjay Sisodiya, UCL, London
A video and clinical panel session to discuss events that are seizures confirmed on EEG recording, those that are hemiplegic episodes and that are undiagnosed.
murine experts (Steve Clapcote, Leeds, UK; Karin Lykke-Hartmann, Aarhus University, Denmark, Mohamad Mikati, Duke, USA), human epilepsy (Mohamad Mikati, Duke, USA; Helen Cross, GOSH, London; Beate Diehl, UCLH, UK; Alexis Arzimanoglou, Lyon, France), human movement disorders (Kailash Bhatia, UCL and Lucinda Carr, GOSH, London).
• Intended outcome:
consensus definitions of events in AHC, key for therapy trials.
Lunch and Poster Session
Foyer of the UCL Institute of Neurology
Afternoon session Research developments in ATP1A3-related disease
Chairs: Erin Heinzen, Columbia University, USA and Steve Clapcote, Leeds University, UK
14:30 Arn van den Maagdenberg, LUMC
The Netherlands AHC Gene 2 – an update
14:50 Jennifer Kearney,
Northwestern University, USA Genetic modifiers for ATP1A3
15:10 Karin Lykke-Hartmann , Aarhus University, Denmark Further analysis of the Atp1a3 D801Y knock-in mouse model
15:30 Bente Vilsen
Denmark ATP1A3 neurological disease mutations affecting Na+-site III: Structural and functional perspectives and rescue of compromised function
16.00 Coffee Break
16.30 Hugh Piggins, The University of Manchester, UK Circadian Disruption in the Myshkin Mouse Model of Mania Independent of Deficits in Molecular Clock Function
16:50 Minako Hoshi, Kyoto University, Japan ATP1A3 as target of beta-amyloid assembly
17.10 Ronald Melki, CNRS Paris, France α-synuclein interaction with α3-Na+/K+-ATPase and relation to decline?
17.30 Jan Koenderink, Radboud UMC,
The Netherlands Biochemical and electrophysiological analysis of ATP1A3 mutations
18:00 End of Day 1 Program
19.00 Conference Dinner and Election of Standing Committee for the ATP1A3 disease Symposium
Holiday Inn London Bloomsbury, Turner Suite
Friday, 26 August 2016
Morning session: Translation to Treatments in ATP1A3-related disease
Chairs Sanjay Sisodiya, UCL, UK and Tsveta Schyns, ENRAH, Belgium
09:00 Francesco Muntoni,
GOSH, London, UK Plenary Introduction:
Gene therapy in a neurological disease, the journey: Duchenne Muscular Dystrophy
09:45 Natalya Fedosova, Aarhus University, Denmark On the way to isoform – specific drugs
10:00 Steve Clapcote, Leeds University, UK Update on the Myshkin mouse model of AHC
10:15 Emmanuel Roze, Paris, France Sharing the experience of a clinical trial in alternating hemiplegia
10:30 Coffee break
11:00 Helen Cross, GOSH London, UK The role of dietary therapy in AHC
11:15 Elisa de Grandis, University of Genoa, Italy Flunarazine and AEDs – where are we now?
11:45 Juan Kaski, GOSH, London, UK Cardiac involvement in AHC: treatment beyond the brain?
12:15 Poster Bursary Award Winner
Northwestern University, USA AHC Patient-specific iPSC-derived Neurons Exhibit Depolarized Resting Membrane Potential and Altered Excitability
CONCLUSIONS, LUNCH AND END OF MEETING