Program

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Conference room
12:0012:15
 Opening addresses
 
Sergiusz Jóźwiak, Paolo Curatolo
15 min
12:1513:45
Session I
Tuberous sclerosis
Chairs: Paolo Curatolo, Sergiusz Jóźwiak
90 min

12:15 - 12:35

Are Clinical Diagnostic Criteria Still Useful in the Era of Genetic Testing?  Steve Roach

12:35 - 12:55

Genetics and Pathogenesis of TSC David Kwiatkowski

12:55 - 13:15

TSC-associated neurodevelopmental disorders: screen — act — repeat Anna Jansen

13:15 - 13:35

Epilepsy matters. Distinct cognitive and psychiatric profiles in high-functioning TSC Adults Anna Marcinkowska

13:35 - 13:45

Discussion
13:4513:55
Coffee break 10 min
13:5514:55
Sponsored session
60 min
14:5517:05
Session II
Epilepsy in TSC
Prowadzący: Lieven Lagae, Katarzyna Kotulska-Jóźwiak
130 min

14:55 - 15:15

Epilepsy in TSC —  natural course, impact of early treatment Paolo Curatolo

15:15 - 15:35

Treatment of Lennox-Gastaut syndrome in TSC  Lieven Lagae

15:35 - 15:55

Postnatal preventive trials of epilepsy treatment Sergiusz Jóźwiak

15:55 - 16:15

 Is prenatal treatment of epilepsy possible? Darcy Krueger

16:15 - 16:35

The Changing Trajectory of TSC in the Post-mTORi Era: Long-term Outcomes from Hong Kong William Ching-Yuen Chu, Wai Lan Yeung, Godfrey Chi Fung Chan

16:35 - 16:55

Is it really a drug-resistant? — case studies Maria Mazurkiewicz-Bełdzińska

16:55 - 17:05

Discussion
20:0022:00
Refreshments 120 min
Conference room
08:0009:50
Session III
Tumors in TSC  
Chairs: Alicja Dębska-Ślizień, Wojciech Młynarski
110 min

08:00 - 08:20

SEGA Diagnosis and Management — 23 years of mTOR inhibitor therapy David Franz

08:20 - 08:40

Pathogenesis and management of kidney lesions in TSC John Bisler

08:40 - 09:00

Diagnostic challenges of renal cell carcinoma in TSC Piotr Skrzypczyk

09:00 - 09:20

Cardiac tumors in TSC — an update Maria Respondek-Liberska

09:20 - 09:40

Lymphangioleyomyomatosis — sirolimus and other treatment options Elżbieta Radzikowska

09:40 - 09:50

Discussion
09:5010:00
Coffee break 10 min
10:0011:50
Session IV
Treatment of Drug resistant epilepsy in TSC
Chairs: Elizabeth Thiele, Maria Mazurkiewicz-Bełdzińska
110 min

10:00 - 10:20

Epilepsy surgery in TSC Paweł Kowalczyk

10:20 - 10:40

Nerve vagus stimulator in TSC Katarzyna Kotulska-Jóźwiak

10:40 - 11:00

Epilepsy in TSC: the role of dietary therapy Elizabeth Thiele

11:00 - 11:20

Drug resistant epilepsy in TSC — case studies (Cenobamate)
 
Katarzyna Kotulska-Jóźwiak

11:20 - 11:40

Visual field constriction after VGB tretament — myth or true? Robert C. Sergott

11:40 - 11:50

Discussion
11:5012:00
Lunch and poster session 10 min
12:0013:00
Sponsored session
60 min
13:0014:30
Session V
NF-1    
Chair: Eric Legius
90 min

13:00 - 13:20

NF-1 diagnosis and surveillance Eric Legius

13:20 - 13:40

Treatment of skin lesions in NF-1 Joanna Narbutt

13:40 - 14:00

Malignant tumors in NF-1 Tomasz Świtaj

14:00 - 14:20

Mosaicism — diagnostic challenge in NF-1 and schwannomatosis Magdalena Koczkowska

14:20 - 14:30

Discussion
14:3014:40
Coffee break 10 min
14:4016:10
Session VI
SWS and other rare neurocutaneous conditions
Chair: Jeffrey Loeb
90 min

14:40 - 15:00

Epilepsy in Sturge-Weber Syndrome Rima Nabbout

15:00 - 15:20

Developing novel prevention and treatment strategies in SWS Jeffrey Loeb

15:20 - 15:40

Von Hippel-Lindau-disease. Lowering of cancer risk and all cause mortality by optimization of blood As and Se levels in females with hereditary predisposition to cancers Jan Lubiński

15:40 - 16:00

White and brown spots — differential diagnosis in neurocutaneous disorders Robert Schwartz

16:00 - 16:10

Discussion
Conference room
08:0009:50
Session VII
Diagnostic challenges in neurocutaneous disorders
Chairs: Justyna Paprocka, Robert Śmigiel
110 min

08:00 - 08:20

Neurocutaneous disorders in the era of large-scale genomic studies Robert Śmigiel

08:20 - 08:40

Ophtalmological manifestations of neurocutaneous disorders
 
Joanna Jędrzejczak

08:40 - 09:00

Transition from childhood to adulthood Ilona Kopyta

09:00 - 09:20

New insights into the biology and therapy of mTORopathies from experimental models Jacek Jaworski

09:20 - 09:40

Autism spectrum disorders in neurocutaneus diseases: bridging neurology and behawior Justyna Paprocka

09:40 - 09:50

Discussion
09:5010:00
Coffee break 10 min
10:0011:30
Session VIII
Best poster presentations and closing session
90 min
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