ATP1A3 disease Symposium 2016

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5TH SYMPOSIUM ON ATP1A3 IN DISEASE
UCL Institute of Neurology, Queen Square 33, London, United Kingdom
24th-26th August 2016

PROGRAM

Wednesday, 24th August, 2016
19.00 P.M. – 22.00 P.M. Welcome to London
The Holiday Inn Bloomsbury, 1st Floor Reception Area
Time Agenda
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
&
Kathleen Sweadner,
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.

• Facilitators:
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.

12:30
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
Aarhus University,
Denmark ATP1A3 neurological disease mutations affecting Na+-site III: Structural and functional perspectives and rescue of compromised function
15:50 Discussion
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
17:50 Discussion
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
Christine Simmons,
Northwestern University, USA AHC Patient-specific iPSC-derived Neurons Exhibit Depolarized Resting Membrane Potential and Altered Excitability
CONCLUSIONS, LUNCH AND END OF MEETING