Spring navigationen over


6. maj 2024

175 forskere i verdensklasse DICE konference

Filadelfias 6. internationale konference om epilepsi, blev holdt den 2.-3. maj i Køge. Temaet var:

‘Overlappende kliniske fænotyper i monogene epilepsier – fælles molekylære veje?’ eller på engelsk ‘Overlapping clinical phenotypes in monogenic epilepsies – common molecular pathways?

Foto af 175 forskere ved DICE 2024 - Filadelfias internationale konference
175 forskere ved DICE 2024 – Filadelfias internationale konference
“Forskning er jo en kontaktsport. Det er noget helt andet at mødes i virkeligheden end virtuelt.”

Professor Christopher Reid, Australien.

Foto af Christopher Reid og Holger Lerche til DICE 2024 konference på Filadelfia
Christopher Reid og Holger Lerche til DICE 2024 konference på Filadelfia

De delte viden på kryds og tværs på den internationale konference DICE 2024. Programmet var tæt pakker med information og seneste nyt fra forskere fra over 20 forskellige lande. Christiopher Reid og Holger Lerche er fra henholdsvis Australien og Tyskland. De mødte hinanden første gang i 2007, og er nu kollegaer inden for forskningen af genetik og epilepsi.

Se programmet her:

Wednesday 1 May

16.30-19.00 Preconference meeting

19.00-21.00 Welcome reception

Thursday 2 May

Session 1

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?


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


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

10.15-10.45 Coffee break

Thursday 2 May

Session 1 – Continued


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


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


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


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

12.25-13.30 Lunch

Thursday 2 May

Session 1 – Continued


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


Panel discussion

14.35-15.00 Coffee break

Thursday 2 May

Session 2 – Clinical relevance of EEG biomarkers in monogenic epilepsies


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


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


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


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


Panel discussion

17.00-18.00 Coffee break & Poster Session

Thursday 2 May

Session 3: Late Breaking News


Late breaking news


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


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


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


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

19.45 Conference dinner

Friday 2 May

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


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


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

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


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


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

Panel discussion

10.45-11.10 Coffee break

Friday 3 May

Session 5: Molecular therapeutic Board


Case presentations of precision medicine in genetic epilepsies

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


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


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


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


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


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


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


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


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


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


Concluding remarks

14.00 Farewell Lunch

Se relaterede nyheder

Foto af arrangørgruppen til DICE 2024 - international konference om epilepsi
151 tilmeldte til vores DICE konference 2024
11. april, 2024
This site is registered on wpml.org as a development site.