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Program

Day 1 – Thursday, September 8

8.00-8.45
Registration of participants

8.45-9.00
Welcome by Fondazione Mariani
Fabio Sereni
Opening remarks

Renzo Guerrini

Chairmen
Peter De Jonghe
Rikke Steensbjerre Møller

More frequent EE with mutations of:

9.00-9.30
KCNQ2
Clinical case (8 minutes)
Tiziana Pisano 

Clinical and genetic overview and innovative treatment options (22 minutes)
Carla Marini 

9.30-10.00

SCN1A 
Clinical and genetic overview and innovative treatment options
Renzo Guerrini

10.00-10.30
PCDH19
Clinical case (8 minutes)
Francesca Darra 

Clinical and genetic overview and innovative treatment options (22 minutes)
Samuel F. Berkovic 

10.30-11.00
CDKL5
Clinical case (8 minutes)
Elena Freri 

Clinical and genetic overview and innovative treatment options (22 minutes)
Nadia-Bahi Buisson

11.00-11.30
Coffee break

Chairmen
Christel Depienne
Elena Parrini

11.30-11.50
STXBP1
Clinical and genetic overview and innovative treatment options
Lucia Fusco

11.50-12.10
FOXG1
Clinical and genetic overview and innovative treatment options
Nicola Specchio

12.10-12.30
KCNT1
Clinical and genetic overview and innovative treatment options
Rima Nabbout

12.30-12.50
SCN2A
Clinical and genetic overview and innovative treatment options
Katherine Howell

12.50-14.00
Lunch

Chairman
Lucia Fusco

14.00-14.20
SCN8A
Clinical and genetic overview and innovative treatment options
Rikke Steensbjerre Møller

14.20-14.40
GABRA1
Clinical and genetic overview and innovative treatment options
Carla Marini

14.40-15.05
SPTAN1 and Inherited GPI deficiency: PIG-A to PIG-Y
Clinical and genetic overview and innovative treatment options
Mitsuhiro Kato

15.05-15.30
SYNGAP1
Clinical case (8 minutes)
Francesco Mari 

Clinical and genetic overview and innovative treatment options (22 minutes)
Christell Depienne 

15.30-15.55
HCN1A
Clinical case (8 minutes)
Anna Rosati 

Clinical and genetic overview and innovative treatment options (22 minutes)
Christel Depienne 

15.55-16.20
Coffee break

Chairmen
Tiziana Granata
Rima Nabbout

16.20-16.40
MECP2 duplications
Clinical and genetic overview and innovative treatment options
Maria Paola Canevini

16.40-17.10
Rare forms of EE (KCNA2, SLC12A5, SLC13A5, DNM1, CHD2, GRIN1, GRIN2B, GABRB3, CACNA1A)
Clinical and genetic overview and innovative treatment options
Johannes Lemke

17.10-17.30
TBC1D24
Clinical and genetic overview and innovative treatment options
Sanjay Sisodiya

17.30-17.50
Skywalker/TBC1D24 harbors an atypical phosphoinositide-binding pocket mutated in epilepsy/DOORS syndrome
Kevin Lüthy

17.50-18.10
Mitochondrial disorders and EE
Clinical and genetic overview and innovative treatment options
Rima Nabbout

Day 2 – Friday, September 9

Chairmen
William B. Dobyns
Nadia Bahi Buisson

9.00-9.20
GLUT1
Clinical and genetic overview and innovative treatment options
Pasquale Striano

9.20-9.50
Inherited metabolic disorders presenting as EE
Clinical case (25 minutes) and overall phenotype (5 minutes) including innovative treatment, clinical case, overall phenotype and the place for metabolic investigations
Georg F. Hoffmann

9.50-10.20
CNV and EE breaking news from the EU consortium
Antonietta Coppola, Elena Cellini on behalf of the EpiCNVs consortium

LESIONAL VS NON-LESIONAL EE? Expanding the role of MTOR-related pathology

10.20-10.40
Genetics and physiopathology of mTORC1-related epilepsies
Clinical and genetic overview and innovative treatment options
Stéphanie Baulac

10.40-11.00
GATOR1 and NPRL2/3
Clinical and genetic overview and innovative treatment options
Ingrid E. Scheffer

11.00-11.30
Coffee break

Chairmen
Jamel Chelly
Ingrid E. Scheffer

11.30-12.00
MTOR pathway/mosaicism/EE
Clinical and genetic overview and innovative treatment options
Ghayda Mirzaa/Renzo Guerrini

12.00-12.30
What neurophysiology tells us
Alfonso Represa

12.30-13.00
From molecular pathology to innovative treatment options - what hopes for the future?
William B. Dobyns

13.00-14.00
Lunch

Chairmen
Johannes Lemke
Carla Marini

Landau-Kleffner and the CSWS spectrum

14.00-14.30
CSWS EE and GRIN2A
Clinical and genetic overview and innovative treatment options (25 minutes + 5 minutes)
Renzo Guerrini/Pierre Szepetowski

14.30-14.50
The genetic architecture of CSWS: are there more causative genes
Bobby Koeleman

14.50-15.10
New variants in EE: how to prove they are good candidates from a molecular biology perspective
Federico Zara

15.10-15.30
New candidate genes: presynaptic proteins
Fabio Benfenati

15.30-16.00
Coffee break

Discussant
Federico Zara

16.00-16.30
Interpretations of variants identified with WES/WGS/NGS
Jamel Chelly

16.30-17.10
International collaborations with large number but highly heterogeneous phenotypes
Pro and Cons
Heather Mefford and William B. Dobyns

17.10-17.40
Most EE remain genetically undiagnosed: what genetic heterogeneity suggest for the future of research?
Samuel F. Berkovic

17.40-18.00
Discussion

Day 3 – Saturday, September 10

Conclusions, consensus, summary finalized to guidelines and publication

Discussants
Samuel F. Berkovic
Heather Mefford
Jamel Chelly

9.00-9.15
Is it still useful to have phenotypic distinctions? - Pros (10 minutes) and Cons (5 minutes)
Carla Marini

9.15-9.30
NGS: small or large pannels for lesional/nonlesional EE/new emerging causes - Pros (10 minutes) and Cons (5 minutes)
Davide Mei/Valerio Conti

9.30-9.45
Exomes or Genomes? Pros (10 minutes) and Cons (5 minutes)
Peter De Jonghe

9.45-10.00
Genetic lesional or non-lesional EE: where are the boundaries? Pros (10 minutes) and Cons (5 minutes)
Renzo Guerrini

10.00-10.15
Is the epileptic encephalopathy still a useful concept? Pros (10 minutes) and Cons (5 minutes)
Ingrid E. Scheffer

10.15-10.30
Discussion
Faculty and discussants

10.30-11.15
Coffee break

11.15-12.00
Final remarks and future plan
All

12.00-13.30
Learning Test

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