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Secretary: Santa Croce 1626 - 30100 Venezia Italy
Tel. e Fax: 39(41)721.053 - Fax: 39(41)529.4555
e-mail: mail@isnvenice.net

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Final Programme
(as of 17 September 2001)

Friday September 28, 2001
11.00am: Parents Association Meeting
12.30pm: Lunch
01.30pm: Opening Remarks (F. Paladin, P. Curatolo, S. Bellagambi)

SESSION 1 - Behaviour in TSC
Chair: P Curatolo (Italy), A Hunt (UK)

01.50pm: Experience of a Parent (G. Della Giovampaola, Italy)
02.00pm: Neurodevelopmental and Neuropsychological profiles of children diagnosed with TSC (AK Morgan, Boston-USA)
02.15pm: Autism in TSC (P Curatolo, Rome-Italy)
02.30pm: Behaviour, Epilepsy and Medication: outcomes in children with TSC (A Hunt, Cambridge-UK)
02.45pm: Evidence that in TSC infantile spasms result in learning difficulties independently of the effect of cerebral pathology (FJK o'Callaghan, Southampton-UK)
03.00pm: Cognitive, behavioural and social characteristics of ten TSC patients referred to the National Center of Epilepsy in Norway (T Hodne, Sandvika-Norway)
03.15pm: Specific cognitive deficit in adults with TSC (PJ De Vries, Cambridge-UK)
03.30pm: Behavioural, intellectual and social consequences of TSC (A Hubbeling, Amsterdam-The Netherlands)
03.45pm: Young people and their families experiences of living with TSC (L Whitehead, Liverpool-UK)
04.00pm: Communication and social impairments in epidemiological sample of individuals with TSC and normal intelligence (C Johnson, Cambridge-UK)
04.15pm: Monozygotic twins discordant for severity of developmental deficits (A Humphrey, Cambridge-UK)
04.40pm: General Discussion

04.40pm: Coffee-break

SESSION 2 - Genetics of TSC
Chair: J Sampson (Cardiff-UK), N.Migone (Turin-Italy)

05.00pm: Genetic diagnosis of Tuberous Sclerosis. Utilization, limitations and technical aspects (J Sampson, Cardiff-UK)
05.20pm: Update on genetic analysis in 476 TSC patients (S Dabora, Boston-USA)
05.40pm: Detection of TSC1 and TSC2 mutations in cohort of 470 patients with TSC (MA Goedbloed, Rotterdam-The Netherlands)
06.00pm: Genotype phenotype correlations in TSC (N Migone, Turin-Italy)
06.20pm: Epilepsy and especially infantile spasms are more frequent among patients with TSC2 mutations (S Jozwiak, Warsaw-Poland)
06.40pm: General Discussion

Saturday September 29, 2001

SESSION 3 - Clinical Problems
Chair: J.Osborne (Bath-UK), J.Jozwiak (Warsaw-Poland)

08.45am: Prevalence of subependimal giant cell astrocytomas in TSC patients in the Wessex Region (F O'Callaghan, Southampton)
09.00am: TSC and brain tumors (AM Laverda, Padua-Italy)
09.15am: The Syndrome of Tuberous Sclerosis first-diagnosed in a six adult-member family. The contribution of internist in diagnosis(T Galeas, Trikala-Greece)
09.25am: Are the frequent absence seizures, renal angiomyolipoma and abdominal leiomyosarcoma in adult patients an atypic syndrome of TSC (T Galeas, Trikala-Greece)
09.35am: Enamel pitting and gingival fibromas in TSC (M Dock)
09.45am: Reduction of the postembolization syndrome following ablation of renal angiomyolipomas (J Blisser, Cincinnati-USA)
10.00am: Mental retardation, epilepsy and renal angiomyolipomas in TSC patients. A coincidence or relationship ?(S Jozwiak, Warsaw-Poland)
10.15am: General Discussion

10.30am: Coffee-break and visit to Posters

SESSION 4 - Molecular Pathogenesis
Chair: H.Sarnat (Los Angeles-USA), P.Crino (Philadelphia-USA)

11.00am: TSC in the new molecular genetic classification of CNS malformations (H Sarnat, Los Angeles-USA)
11.20am: Differential cellular expression of neurotrophins in cortical tubers of the TSC (P Crino, Philadelphia-USA)
11.40am: Hamartin as a novel integrator of the cytoskeleton. Direct association between Hamartin and the neurofilament light chain (L Haddad, Charlestown-USA)
11.55am: PAM (Protein associated with MYC) a novel interactor for tubering (W Murthy, Charlestown-USA)
12.10pm: Survey of somatic mutations in TSC hamartomas suggests different genetic mechanisms for pathogenesis of TSC lesions (V Ramesh, Rotterdam-The Netherlands)
12.25pm: Molecular pathogenesis of TSC genes mutant models (O Hino, Tokyo-Japan)
12.45pm: Analysis of the Products of TSC1 and TSC2 tumor Suppressor Genes (JE DeClue, Bethesda MD - USA)
1.05pm: General Discussion

1.20pm: Lunch

SESSION 5 - Medical and Surgical Treatments
Chair: P.Curatolo (Rome-Italy), F.Paladin (Venice-Italy)

2.30pm: Experience of a Parent (L Pari,Italy)
2.35pm: Pharmacotherapy of behaviour and attentional problems in individuals with TSC (D Franz, Cincinnati-USA)
2.50pm: A survey of antiepileptic drugs used in Northern Ireland (C Shepherd, Belfast-N Ireland)
3.05pm: Levetiracetam therapy of epilepsy in TSC (D Franz, Cincinnati-USA)
3.15pm:Oxcarbazepine therapy of epilepsy in TSC (D Franz, Cincinnati-USA)
3.25pm: General Discussion

3.45pm: Coffee-break

Chair: S.Seri (Rome-Italy), E.A.Thiele (Boston-USA)

4.15pm: Multistage epilepsy survey in a child with TSC and refractory epilepsy involving the motor cortex (P Romanelli, New York-USA)
4.30pm: Non-invasive mapping of the epileptogenic zone in children with TSC and refractory epilepsy (S Seri, Birmingham-UK and Rome-Italy)
4.50pm: Multiple subpial transections in bilateral resective epilepsy surgery in a child with TSC (P Romanelli, New York.USA)
5.05pm: Intractable epilepsy and TSC: the role of epilepsy in the pediatric population (EA Thiele, Boston-USA)
5.25pm: General Discussion
5.40pm: Summation of the Conference (J Osborne, Bath-UK)
6.00pm: Parents meet the experts (Chairs: S Seri, S Bellagambi)
6.45pm: Closing Remarks (P Curatolo, S Bellagambi)