The ATP1A3 in disease symposium in now ongoing in Brussels.

66 participants from all over Europe, Canada, USA and Japan are present. The symposium is organized by
European Network for Research on Alternating Hemiplegia (ENRAH) & DUKE Center for Human Genome Variation.

Monday, December 10th, 2012
Opening Session
Chairs: Tsveta Schyns and David Goldstein
–  Welcome – Tsveta Schyns and Irene Norstedt
– Family Foundations involvement for AHC international
– research- Dominique Poncelin
– The parents perspective – Sigurður Hólmar Jóhannesson
– Genetics of rare disease, application of NGS in clinical care – David Goldstein
– Introduction to Alternating Hemiplegia of Childhood –  Brian Neville
– Overview of AHC – Mohamad Mikati
– Is AHC a progressive disease? Brian Neville
– Discussion
– AHC Genetics –  Giovanni Neri
– ATP1A3 and AHC: The Nature Genetics research group- Erin Heinzen
– Identifying the gene associated with AHC: the Lancet Neurology researc group – Hendrik Rosewich
– ATP1A3 mutations in sporadic cases from the I.B.AHC Biobank and Clinical Registry – Fiorella Gurrieri
– ATP1A3 mutations in sporadic and familial AHC cases from the Utah registry
Sandra P. Reyna
– Identification of ATP1A3 mutations by exome sequencing as the cause of AHC in Japanese patients- Atsushi Ishii
– Phenotypic analysis of AHC patients with ATP1A3 mutations: Preliminary results.- Eleni Panagiotakaki

– Identifying fields for future clinical research in AHC-  Alexis Arzimanoglou

– Roundtable Discussions- Clinical genetic correlations and search for new genes for AHC – Moderators : Arn V.D. Maagdenberg and Alexis Arzimanoglou

 Key challenges
 Directions moving forward
 Collaborative groupings
– Active support and collaboration to researchers in the field of AHC and
related diseases – Filippo Franchini

– Rapid-Onset Dystonia-Parkinsonism – Mohamad Mikati

– AHC versus Rapid-Onset Dystonia-Parkinsonism:
allelic disorders and a phenotypic spectrum- Knut Brockmann

– Expanded RDP phenotype: motor and non-motor features- Allison Brashear

– Dystonia phenotype, circuitry, and, physiology Mark Edwards

– Cerebellar dysfunction in RDP –  Kamran Khodakhah

– The genetics of Dystonia –  Laurie J. Ozelius

– Discussion and Refreshments

Dinner talk
From genetics to therapy:
The story of neonatal diabetes – Frances Ashcrof