Programme

Time is stated in local Swedish time – time zone UTC/GMT +2 hours / CEST

• Please see: www.timeanddate.com/time/zone/sweden/stockholm

Thursday 23 September

8:45 Welcome and opening remarks: Organizing Committee (Anita Aperia, Eli Gunnarson)

Interactions between ion transporters and the  plasma membrane

9:00-9:30 Gunnar von Heijne, Stockholm University, Sweden:
Biogenesis of integral membrane proteins

9:30-10:00 Sara Liin, Linköping University, Sweden:
Natural and synthetic lipids as activators of voltage-gated potassium channels

10:00-10:15 Oral presentation: Elisa De Grandis
Alternating Hemiplegia of Childhood: genotype-phenotype correlations in a cohort of 39 Italian patients

10:15-10:45 Steve Karlish, Weizman institute, Israel:
Specific Na,K-ATPase-lipid interactions. A role in neurological disease?

Break  10:45-11:00

11:00-11:30 Erdinc Sezgin, Karolinska Institutet, Sweden:
Structure and function relationship in plasma membrane

11:30-12:00 Maria Dahlin, Karolinska Institutet, Sweden:
The ketogenic diet – clinical aspects and mechanisms of action

12:00-12:30  General discussion

Lunch break 12:30-13:15

Pain

Moderators: Eli Gunnarson and Hendrik Rosewich

13:15-14:00 Håkan Olausson, Linköping university, Sweden:
A newly discovered system for ultrafast pain signalling

14:00-14:30 Philipp Mittermaier, Karolinska University Hospital, Sweden:
Pediatric aspects of pain and pain treatment 

14:30-15:15 Cecilia Lidbeck and Kickie Löwing, Karolinska Institutet/Karolinska University Hospital, Sweden:
Exploring motor function and everyday activity in a child with ATP1A3

Break 15:15-15:30

Moderator: Hjalmar Brismar

15:30-15:45 Oral presentation: Michael Habeck:
Cryo-EM structures of human Na,K-ATPase α1 and α3 isoforms

15:45-16:00 Oral presentation: Sofia Ygberg:
Molecular pathology of ATP1A mutations

16:00-16:30 Kathleen Sweadner, Harvard university, USA:
The impact of cellular responses on the spectrum of ATP1A3 disease

Friday 24 September

Moderators: Eli Gunnarson and Anita Aperia

9:00-10:00 Keynote lecture: Majken Nedergaard, Copenhagen University, Denmark:
The Glymphatic System

10:00-10:15 Oral presentation: Maria Papadopoulou
Sleep disorders in children with Alternating Hemiplegia of Childhood: preliminary results of the HEPNOS study

ATP1A3 in motor neurons, role for motor function

Moderators: Anita Aperia and Eli Gunnarson

10:15-10:45 Ihtsham Ul Haq, University of Miami, USA:
Rapid Onset Dystonia Parkinsonism in ATP1A3 disease: one point in an expanding spectrum

10:45-11:15 Gareth Miles, St Andrews University, UK:
ATP1A3 expression within the spinal cord regulates movements and may contribute to motor disorders

Break 11:15-11:30

11:30-11:45 Oral presentation: Evgeny Akkuratov
Mechanisms by which the T613M mutation causes mobility and gait disturbances in Rapid-Onset Dystonia-Parkinsonism

11:45-12:00 Oral presentation: Frankie Sorell
Effects of the Rapid-Onset Dystonia-Parkinsonism gene mutation T613M on spinal motor networks in mice

12:00-12:30 Eva Weidenhielm Broström, Karolinska Institutet/Karolinska University Hospital, Sweden:
Gait and motion analysis in pediatric disorders causing motor dysfunction, – how, what and why?

Lunch break 12:30-13:15

Molecular manifestation and genetics

Moderators: Anita Aperia and Eli Gunnarson

13:15-13:45 Hendrik Rosewich, Göttingen University, Germany:
Core Phenotype of the ATP1A3 Related Disorders

13:45-14:15 Anna Lindstrand, Karolinska Institutet, Sweden:
Reverse phenotyping after whole genome sequencing allows for high diagnostic rates across a broad spectrum of rare diseases

14:15-14:30 Oral presentation: Monica Dahlstrup Sietam:
Spontaneous development of motor deficits in a mouse model carrying the CAPOS mutation    

Break 14:30-14:45

14:45-15:30 Christopher A. Walsh, Harvard Medical School, USA:
Early role for a ATP1A3 in brain development

15:30-16:00 Mohamad Mikati, Duke University, USA:
Gene Therapy of Alternating Hemiplegia of Childhood

16:00-16:30 General discussion and closing remarks (Anita Aperia and Eli Gunnarson)

The symposium is conducted with the support of