16.30-19.00 Preconference meeting

19.00-21.00 Welcome reception

Session 1

8.45-9.00
Introduction to conference

Session 1 Overlapping clinical phenotypes – common molecular pathways?
9:00 – 9.25

Andreas Brunklaus (Glasgow, UK) The extended spectrum of SCN1A-related disorders: how does function relate to the clinic?

9.25-9.50

Elena Gardella (Dianalund, DK) Sodium channelopathies: clinical commonalities and differences

9.50-10.15

Sebastian Ortiz (Dianalund, DK) Distrinct clinical phenotypes associated with LOF vs GOF GABAA-receptor variants

Session 1 – Continued

10.45-11.10

Carla Marini (Ancona, IT) PRRT2 variants in self-limiting epilepsy, paroxysmal dyskinesia, and hemiplegic migraine

11.10-11.35

Steffen Syrbe (Heidelberg, GER) The spectrum of CACNA1A-related disorders

11.35-12.00

Robert Lauerer-Braun (Tübingen, GER) CACNA1E variants in Developmental and
Epileptic Encephalopathy with contractures, macrocephaly and dyskinesia

12.00-12.25

Johannes Lemke (Leipzig, GER) GRIN-related disorders: diversification of inheritance pattern, phenotypic spectrum, and treatment approaches

Session 1 – Continued

13.30-14.15

Kevin Bender (San Francisco, USA) & Stephan Sanders (Oxford, UK) Similar clinical phenotypes – shared genetic mechanisms?

14.15-14.35

Panel discussion

Session 2 – Clinical relevance of EEG biomarkers in monogenic epilepsies

15.00-15.25

Roberta Cilio (Brussels, BE) EEG biomarkers in neonatal onset epilepsies

15.25-15.50

Guido Rubboli (Dianalund, DK) EEG phenotyping: Still a valuable tool for genotype-phenotype correlations?

15.50-16.15

Alberto Cossu (Verona, IT) Quantitative EEG biomarkers for STXBP1-related disorders

16:15-16.40

Stéphane Auvin (Paris, FR) The usefulness of EEG biomarkers in clinical trials

16.40-17.00

Panel discussion

Session 3: Late Breaking News

18.00-19.00

Late breaking news

18.00-19.00

Lorenz Kiwull (Salzburg, AUT): Overlapping molecular pathways – common clinical penotypes? Standard procedure for common data elements in groups of rare diseases using the example of SYNGAP1 and classical RASopathies

18.15-18.30

Philip K. Ahring (Sydney, AUS): Can paralogous epilepsy-associated GABAA receptor variants be used as indicators for clinical outcomes?

18.30-18.45

Christopher Reid (Melbourne, AUS): Enhanced inhibition in hippocampal pyramidal neurons in a gain-of-function GABRB3 mouse model of epilepsy

18.45-19.00

Jean-Francois Perrier (Copenhagen, DK): Understanding and treating STXBP1 neurodevelopmental encephalopathy

Session 4: Precision Medicine in Genetic Epilepsies: Concepts and Research Strategies

8.30-8.55

Rikke Møller, (Dianalund, DK), Precision medicine in genetic epilepsies 

8.55-9.20

Maurizio Taglialatela (Naples, IT) How can drug repurposing inform us of dysfunctional mechanisms? Yelds and challenges

9.20-9.45
Snezana Majevic (Melbourne, AUS) Leveragine iPSC-derived disease models to propel precision medicine treatments for Developmental and Epileptic Encephalopathy

9.45-10.10

Massimo Montegazza (Nice, FR) The role of mouse models of genetic epilepsies in precision medicine

10.10-10.20

Rami Aqeilan (Jerusalem, ISR) Modelling and Characterizing WOREE Syndrome: from Basic Science to Translational Medicine
 
10.20-10.45

Panel discussion

Session 5: Molecular therapeutic Board

11.00-13.00

Case presentations of precision medicine in genetic epilepsies

11.10-11.25
Matthias De Wachter (Antwerp/Dianalund, BEL/DK): KCNA2-GOF and GOF-LOF Developmental and Epileptic Encephalopathy: an update on treatment response of 4-Aminopyridine

11.25-11.40

Illona Krey (Leipzig/Atlanta, GER/USA): Precision medicine approaches in GRIN-related disorders – what do we know and what’s next?

11.40-11.55

Pierandrea Muglia (Brussels, BEL): Radiprodil, a NR2-NMDA negative allosteric modulator in clinical development for GRIN related disorders

11.55-12.10

Cathrine Gjerulfsen (Dianalund, DK): Cenobamate as add-on treatment in SCN8A related developmental and epileptic encephalopathy

12.10-12.25

Laia Nou Fontanet (Barcelona, SP): AFG2A-related Encephalopathy: Clinical phenotype and ketogenic diet effect (in vivo and in vitro effect)

12.25-12.40

Vivian Liao (Sydney, AUS): Vinpocetine improves epilepsy and comorbidity outcomes in patients with GABAA receptor loss-of-function variants

12.40-12.50

Steve Petrou (Boston, USA): Revolutionizing Treatment for Early-Onset Developmental and Epileptic Encephalopathy: A first look at ASO Therapy for SCN2A

12.50-13.00

Evelina Carapancea (Brussels, BEL): Everolimus precision therapy in a patient withe NPEL3-related epilepsy

13.00-13.10

Ida Cursio (Ancona, IT) Generalized epilepsy, intellectual disability, behavioral disorder and familiar tremor due to compund heterozigosity of the CAD gene

13.10-13.45

Matthew C. Walker (London, UK) Therapies of the future

13.45-14.00

Concluding remarks