Opening addresses
Sergiusz Jóźwiak,
Paolo Curatolo
15 min
12:15 – 13:55
Session I
Tuberous sclerosis
Chairs:
Paolo Curatolo,
Sergiusz Jóźwiak
100 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 - 13:55
Discussion
13:55 – 14:25
Coffee break
30 min
14:25 – 15:25
Sponsored session
60 min
15:25 – 17:45
Session II
Epilepsy in TSC
Prowadzący:
Lieven Lagae,
Katarzyna Kotulska-Jóźwiak
140 min
15:25 - 15:45
Epilepsy in TSC — natural course, impact of early treatment
Paolo Curatolo
15:45 - 16:05
Treatment of Lennox-Gastaut syndrome in TSC
Lieven Lagae
16:05 - 16:25
Postnatal preventive trials of epilepsy treatment
Sergiusz Jóźwiak
16:25 - 16:45
Is prenatal treatment of epilepsy possible?
Darcy Krueger
16:45 - 17:05
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
17:05 - 17:25
Is it really a drug-resistant? — case studies
Maria Mazurkiewicz-Bełdzińska
17:25 - 17:45
Discussion
19:30 – 22:00
Refreshments
150 min
Conference room
08:00 – 10:00
Session III
Tumors in TSC
Chairs:
Alicja Dębska-Ślizień,
Wojciech Młynarski
120 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 - 10:00
Discussion
10:00 – 10:30
Coffee break
30 min
10:30 – 12:30
Session IV
Treatment of Drug resistant epilepsy in TSC
Chairs:
Elizabeth Thiele,
Maria Mazurkiewicz-Bełdzińska
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 - 11:50
Drug resistant epilepsy in TSC — case studies (Cenobamate)
Katarzyna Kotulska-Jóźwiak
11:50 - 12:10
Vigabatrin and visual field constriction: condemned but not guilty
Robert C. Sergott
12:10 - 12:30
Discussion
12:30 – 13:30
Lunch and poster session
60 min
13:30 – 14:30
Sponsored session
60 min
14:30 – 16:10
Session V
NF-1
Chair:
Eric Legius
100 min
14:30 - 14:50
NF-1 diagnosis and surveillance
Eric Legius
14:50 - 15:10
Treatment of skin lesions in NF-1
Joanna Narbutt
15:10 - 15:30
Malignant tumors in NF-1
Tomasz Świtaj
15:30 - 15:50
Mosaicism — diagnostic challenge in NF-1 and schwannomatosis
Magdalena Koczkowska
15:50 - 16:10
Discussion
16:10 – 16:40
Coffee break
30 min
16:40 – 18:30
Session VI
SWS and other rare neurocutaneous conditions
Chair:
Jeffrey Loeb
110 min
16:40 - 17:00
Epilepsy in Sturge-Weber Syndrome
Rima Nabbout
17:00 - 17:20
Developing novel prevention and treatment strategies in SWS
Jeffrey Loeb
17:20 - 18:00
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
18:00 - 18:20
White and brown spots — differential diagnosis in neurocutaneous disorders
Robert Schwartz
18:20 - 18:30
Discussion
Conference room
08:00 – 10:00
Session VII
Diagnostic challenges in neurocutaneous disorders
Chairs:
Justyna Paprocka,
Robert Śmigiel
120 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 - 10:00
Discussion
10:00 – 10:20
Coffee break
20 min
10:20 – 11:50
Session VIII
Best poster presentations and closing session
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