Opening addresses
Sergiusz Jóźwiak,
Paolo Curatolo
15 min
12:15 – 14:30
Session I
Tuberous sclerosis
Przewodniczący:
Paolo Curatolo,
Sergiusz Jóźwiak
135 min
12:15 - 12:35
Are Clinical Diagnostic Criteria Still Useful in the Era of Genetic?
Steve Roach
12:35 - 12:55
Genetics and Pathogenesis of TSC
David Kwiatkowski
12:55 - 13:10
TSC-associated neurodevelopmental disorders: screen — act — repeat
Anna Jansen
13:10 - 13:30
Discussion
15:00 – 15:15
Coffee break
15 min
15:15 – 16:15
Sponsored session
60 min
16:15 – 19:00
Session
Epilepsy in TSC
Chairs: TBC
165 min
16:15 - 16:35
Epilepsy in TSC — natural course, impact of early treatment
Paolo Curatolo
16:35 - 16:55
Treatment of Lennox-Gastaut syndrome in TSC
Lieven Lagae
16:55 - 17:15
Postnatal preventive trials of epilepsy treatment
Sergiusz Jóźwiak
17:15 - 17:35
Is prenatal treatment of epilepsy possible?
Darcy Krueger
17:35 - 17:55
The Changing Trajectory of TSC in the Post-mTORi Era: Long-term Outcomes from Hong Kong
17:55 - 18:15
Is it really a drug-resistant? — case studies
Maria Mazurkiewicz-Bełdzińska
18:15 - 19:00
Discussion
20:00 – 22:00
Welcome reception
120 min
Conference room
08:00 – 10:00
Session
Tumors in TSC
Prowadzący:
Alicja Dębska-Ślizień,
Wojciech Młynarski
120 min
08:00 - 08:20
SEGA — diagnosis and treatment — 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 - 10:00
Lymphangioleyomyomatosis — sirolimus and other treatment options
Elżbieta Radzikowska
10:00 – 10:30
Coffee break
30 min
10:30 – 12:30
Session
Treatment of Drug resistant epilepsy in neurocutaneous disorders
Prowadzący:
Justyna Paprocka,
Elizabeth Thiele
120 min
10:30 - 10:50
Epilepsy surgery in TSC
Paweł Kowalczyk
10:50 - 11:10
Nerve vagus stimulator in TSC
Katarzyna Kotulska-Jóźwiak
11:10 - 11:30
Epilepsy in TSC: the role of dietary therapy
Elizabeth Thiele
11:30 - 11:45
Drug resistant epilepsy in TSC — case studies
11:45 - 12:30
Discussion
12:30 – 13:30
Lunch and poster session
60 min
13:30 – 14:30
Best poster presentations
60 min
14:45 – 16:45
Session
NF-1
Prowadzący:
Eric Legius
120 min
14:45 - 15:05
NF-1 diagnosis and surveillance
Eric Legius
15:05 - 15:25
Treatment of skin lesions in NF-1
Joanna Narbutt
15:25 - 15:45
Malignant tumors in NF-1
Tomasz Świtaj
15:45 - 16:05
Mosaicism — diagnostic challenge in NF-1 and schwannomatosis
Magdalena Koczkowska
16:45 – 17:15
Coffee break
30 min
17:15 – 19:00
Session
SWS and other rare neurocutaneous conditions
Prowadzący:
Jeffrey Loeb
105 min
17:15 - 17:35
Epilepsy in Sturge-Weber
Rima Nabbout
17:35 - 17:55
Developing novel prevention and treatment strategies in SWS
Jeffrey Loeb
17:55 - 18:15
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
18:15 - 19:00
Discussion
Conference room
08:00 – 10:30
Sesja
What is it? Challenges in the diagnostics of neurocutaneous disorders — case studies
Prowadzący:
Steve Roach,
Jolanta Wierzba
150 min
08:00 - 08:20
Neurocutaneous disorders in the era of large-scale genomic studies
Robert Śmigiel
08:20 - 08:40
White and brown spots — differential diagnosis in neurocutaneous
disorders
Robert Schwartz
08:40 - 10:30
Case presentations
10:30 – 11:00
Coffee break
30 min
11:00 – 12:30
Session
Best poster presentations and closing session
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