FACULTY :
Alexis ARZIMANOGLOU (Lyon, France)
Miryam CARECCHIO (Padova, Italy)
Diane DOUMMAR (Paris, France)
Renzo GUERRINI (Firenze, Italy)
Philippe KAHANE (Grenoble, France)
Michael KRUER (Phoenix, USA)
Manju KURIAN (London, UK)
Vincenzo LEUZZI (Roma, Italy)
Jean-Pierre LIN (London, UK)
Jonathan MINK (Rochester, USA)
Nardo NARDOCCI (Milano, Italy)
Roser PONS (Athens, Greece)
Ingrid SCHEFFER (Melbourne, Australia)
Giovanna Zorzi (Milano, Italy)

SCIENTIFIC COMMITTEE :

Emilio Fernandez-Alvarez (Spain) - Chair
Alexis Arzimanoglou (France, Spain)
Jaume Campistol (Spain)
Renzo Guerrini (Italy)
Nardo Nardocci (Italy)

 

 

 

 

 

 

 

 

 

 

 

 

 

                                                                                                                                                

 

                                                                                               DOWNLOAD THE ABSTRACTS OF THE POSTERS HERE

                                                                                               DOWNLOAD THE BASTRACTS OF THE VIDEO SESSIONS HERE

Thursday, February 6th, 2020

Session 1: Background-1
Chair : Birgit Assmann (Germany)

10h00 – 10h30: The hunting of causative genes - Manju Kurian (London, UK)

10h30 – 11h00: Co-occurrence of movement disorders and epilepsy: an historical overview - Renzo Guerrini (Firenze, Italy)

11h00 – 11h30: Discussion

11h30 –12h00: Coffee Break

 

Session 2: Background-2
Chair : Mohammad Shekeeb (Australia)

12h00 – 12h30: Basic cellular mechanisms involved in movement disorders and epilepsy Jonathan Mink (Rochester, USA)

12h30 – 13h00: Pathways involved in the co-occurrence of movement disorders and epilepsyPhilippe Kahane (Grenoble, France)

13h00 – 13h30: Discussion

13h30 – 15h00: Lunch & Posters
 

15h00 – 16h00: Video session-1
Chair : José Obeso (Spain)

15H00 - 15H10 : Epilepsy, dyskinesia and ASD in an infant with probably ALG1 mutation (CDG-Ik) – a case presentation – Mihaela Vintan (Romania)
15h10 – 15h20 : Co-occurence of epilepsy and paroxysmal dyskinesia - case report – Galina Stevanovic (Serbia)
15h20 – 15h30 : NCAM2 deletion in a boy with neurodevelopmental disorder, epilepsy and subtle movement disorder – Dina Amrom (Luxembourg)
15h30 – 15h40 : Epilepsy and hyperkinetic movement disorders in a patient with Williams-Beuren syndrome – Mario Mastrangelo (Italy)
15h40 – 15h50 : Acyl-CoA-binding domain-containing protein 6 (ACBD6) loss of function leads to GSMDE
– Rauan Kaiyrzhanov (UK)
15h50 – 16h00 : Long-term follow-up of two siblings with Succinic Semialdehyde Dehydrogenase Deficiency – Anna Commone (Italy)

 

Session 3: Clinical spectrum- 1
Chair : Mostafa Awadh (Egypt)

16h00 – 16h30: Complex hyperkinetic movement disorders as a core feature of GSMDE. ADCY5, GNAO1 and PDE10A related diseases - Miryam Carecchio (Padova, Italy)

16h30 – 17h00: TBC1D24 related disordersRenzo Guerrini (Firenze, Italy)

17h00 – 17h30: Discussion

17h30 - 18h00 : Coffee break

 

Session 4: Clinical spectrum- 2
Chair : Monica Troncoso (Chile)

18h00 – 18h45: Movement disorders associated with different genetic, developmental and epileptic encephalopathies. FOXG1 and STXBT1 related diseasesIngrid Scheffer (Melbourne, Australia)

18h45 – 19h15: GSMDE due to loss-of-function mutations. FRRS1L and other genetic related diseases - Michael Kruer (Phoenix, USA)

19h15 – 19h45: Discussion
 

19h45 – 20h45: Video session-2
Chair : Warren Marks (USA)
19h45 – 19h55 : Successful treatment of refractory chorea in a patient with a common gain-of-function GNAO1 variant by folinic acid – Ching Wan Lam (China)
19h55 – 20h05 : Ocular movements and other visual function in children with GNAO1 Syndrome – Domenica Battaglia (Italy)
20h05 – 20h15 : Sandhoff disease & sensory trick: when myoclonus and dystonia meet at the cortical-subcortical boundary – Giorgia Olivieri (Italy)
20h15 – 20h25 : Expanding the spectrum of Segawa syndrome: more than dopa-responsive dystonia – Sara Vila Bedmar (Spain)
20h25 – 20h35 :
Ataxia, verbal apraxia and late onset myoclonia: a long journey and a still mysterious diagnosis – Marine Jequier Gygax (Switzerland)

 

Friday, February 7th, 2020

PTC Therapeutics Industry-sponsored breakfast symposium: Beyond movement disorders and epilepsy – Understanding AADC deficiency

7h45 - 7h50 : Welcome and introduction - Prof. Angeles Garcia Cazorla (Spain)
7h50 - 8h05 : The basics of AADC deficiency: Genetics and symptoms - Dr. Nastassja Himmelreich (Germany)
8h05 - 8h20 : A challenging clinical case: Differential diagnosis of AADC deficiency - Prof. Angeles Garcia Cazorla (Spain)
8h20 - 8h35 : Managing AADC deficiency: Current options and future outlook - Prof. Bruria Ben-Zeev (Israel)
8h35 - 8h45 : Q&A session - Prof. Angeles Garcia Cazorla (Spain)

 

Session 5 Clinical spectrum- 3
Chair : Carlotta Canavese (Italy)

8h45 – 9h15: When the movement disorder is the dominant feature in GSMDEDiane Doummar (Paris, France)

9h15 – 9h45: When epilepsy is the dominant feature in GSMDE - Ingrid Scheffer (Melbourne, Australia)

9h45 – 10h15: Discussion

10h15 – 10h45: Coffee Break

 

Session 6: Clinical spectrum- 4
Chair : Wang-Tso Lee (Taiwan)

10h45 – 11h15: When neurodevelopmental deficit is in the frontline in GSMDEVincenzo Leuzzi (Rome, Italy)

11h15 – 11h45: GSMDE with parkinsonism as main sign - Roser Pons (Athens, Greece)

11h45 – 12h15: Discussion
 

12h15 – 13h15: Video session-3
Chair : Toni Pearson (USA)
12h15 – 12h25 : Diagnostic journey of patient with paroxysmal jerks and seizures: video-presentation – Vera Fominykh (Russia)
12h25 – 12h35 : A girl with a de novo heterozygous mutation in NALCN gene and pyridoxine-dependent seizures and movement disorder – Eve ÕIGLANE-ŠLIK (Estonia)
12h35 – 12h45 : Expanding the clinical phenotype associated with KCNC1 – related disorders – Patricia Lipari Pinto (Portugal)
12h45 – 12h55 : Phenotypic spectrum of POLR1C leukodystrophy – Susana Roldán (Spain)
12h55 – 13h05 : Dyskinesia and pharmacorefractory epilepsy in a child with a homozygous PCDH12 mutation – Anne Koy (Germany)
13h05 – 13h15 : Hyperkinesis associated with dystonia responds to pallidal deep brain stimulation – Warren Marks (United States)

13h15 - 14h45 : Lunch & Posters
 

Session 7: Therapeutics
Chair : Jaume Campistol (Spain)

14h45 – 15h15: Medical treatment of the epilepsy in GSMDE Alexis Arzimanoglou (Lyon, France)

15h15 – 15h45: Medical treatment of the movement disorder - Giovanna Zorzi (Milano, Italy)

15h45 – 16h15: The place of deep brain stimulation in GSMDEJean-Pierre Lin (London, UK)

16h15 – 16h45: Innovative treatment perspectives - Manju Kurian (London, UK)

16h45 – 17h15: Discussion
 

17h15 – 18h15: Video session-4
Chair : Eleni Panagiotakaki (France)

17h15 – 17h25 : ADCY5-related movement disorder with paroxysmal events-video case report from infancy to adolescence – Oliver Maier (Switzerland)
17h25 – 17h35 : KGD4 biallelic variants in two siblings with bilateral striatal necrosis: a new gene of Krebs cycle associated with Leigh syndrome – Serena Galosi (Italy)
17h35 – 17h45 : The GRIA3 c.2477G>A variant causes a new and distinctive phenotype of early-onset multifocal myoclonus, generalized chorea and exaggerated startle reflex – Juliette Piard (France)
17h45 – 17h55 : Episodic axial hyperextension – a case of GRIN2B Encephalopathy – Ralf Eberhard (Switzerland)
17h55 – 18h05 : Non-paroxysmal movement disorders in patients with Alternating Hemiplegia of Childhood: “soft” and “stiff” – Eleni Panagiotakaki (France)
18h05 – 18h15: 
Atypical presentation of Subacute Sclerosing Panencephalitis: periodic hyperkinetic movements and EEG as key features in case of with unusual MRI – Leticia Pias-Peleteiro (Spain)


18h15 : Closing ceremony

 

 

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