| 18 Mars 2018
FRIDAY, APRIL 27TH: “GENETIC CONTRIBUTION TO THE MANAGEMENT OF CHILDHOOD EPILEPSIES...“
Lectures / conférences
11.30am: …Regarding diagnosis
Why you need to consider genetic testing of children with epilepsy. - Rikke Steensbjerre Moller (Copenhagen, Denmark)
12.00pm: …Regarding treatment
Personalized treatment for genetic epilepsies of childhood. - Sarah Weckhuysen (Antwerp, Belgium)
12.30pm: …Regarding genetic counselling
The contribution of genetic counseling to the management of childhood epilepsies. - Gaetan Lesca (Lyon, France)
1.00pm: Discussion
1.30pm: Lunch 1.30pm: Zogenix working lunch
Clinical cases discussion and ral communications
2.30pm: DDC1 - SEEG en… famille. E. Panagiotakaki (Lyon, France)
3.00pm: CO1 - A successful case of total callosotomy for intractable seizures in congenital bilateral perisylvian syndrome.
S. Hanaoka (Matsudo City, Japan)
3.15pm: CO2 - Cask related-disorders: clinical, electroencephalographic and neuroradiological description of 4 genetically confirmed cases. L. Pisciotta (Genoa, Italy)
3.30pm: CO3 - Diagnostic exome sequencing in patients with epilepsy. A. Martinez-Esteve Melnikova (Barcelona, Spain)
3.45pm: CO4 - Early epilepsy surgery in a patient with infantile spasms and focal seizures, due to focal cortical dysplasia, and TSC2 gene mutation: considerations about the impact of gene mutation on the correct surgical timing in the presurgical evaluation. A. Russo (Bologna, Italy)
4.00pm: CO5 - Early seizure onset in TSC: probing for prognostic markers. A. Mingarelli (Milan, Italy)
4.15pm: CO6 - Grin1-related early onset encephalopathy, a distinct NMDA receptor dysfunction. C. Fons (Barcelona, Spain)
4.30pm: Break and posters visit / pause et visite des posters
5.00pm: CO7 - Long term follow-up in two families with adenylosuccinate lyase (ADSL) deficiency and genotype-phenotype correlations through a revision of literature. S. Masnada (Pavia, Italy)
5.15pm: CO8 - Therapeutic cannabinoids in paediatric neurological diseases: experience from a Tertiary Referral Center.
E. De Grandis (Genoa, Italy)
5.30pm: CO9 - Assessment of ADHD in a cohort of children and adolescents with epilepsy. C. Francesca (Milano, Italy)
5.45pm: CO10 - Automatic imitation in young patients with Gilles de la Tourette syndrome: a case control study. C. Termine (Varese, Italy)
6.00pm: CO11 - Cerebral Visual Impairments and Autism Spectrum Disorder. S. Chokron (Paris, France)
6.15pm: CO12 - Corpus Callosum Agenesis and Interhemispheric Cysts: epileptic evaluation and long-term outcome in 30 children. S. Uccella (Genoa, Italy)
6.30pm: SENP general assembly
8.30pm: Gala dinner
11.30am: …Regarding diagnosis
Why you need to consider genetic testing of children with epilepsy. - Rikke Steensbjerre Moller (Copenhagen, Denmark)
12.00pm: …Regarding treatment
Personalized treatment for genetic epilepsies of childhood. - Sarah Weckhuysen (Antwerp, Belgium)
12.30pm: …Regarding genetic counselling
The contribution of genetic counseling to the management of childhood epilepsies. - Gaetan Lesca (Lyon, France)
1.00pm: Discussion
1.30pm: Lunch 1.30pm: Zogenix working lunch
Clinical cases discussion and ral communications
2.30pm: DDC1 - SEEG en… famille. E. Panagiotakaki (Lyon, France)
3.00pm: CO1 - A successful case of total callosotomy for intractable seizures in congenital bilateral perisylvian syndrome.
S. Hanaoka (Matsudo City, Japan)
3.15pm: CO2 - Cask related-disorders: clinical, electroencephalographic and neuroradiological description of 4 genetically confirmed cases. L. Pisciotta (Genoa, Italy)
3.30pm: CO3 - Diagnostic exome sequencing in patients with epilepsy. A. Martinez-Esteve Melnikova (Barcelona, Spain)
3.45pm: CO4 - Early epilepsy surgery in a patient with infantile spasms and focal seizures, due to focal cortical dysplasia, and TSC2 gene mutation: considerations about the impact of gene mutation on the correct surgical timing in the presurgical evaluation. A. Russo (Bologna, Italy)
4.00pm: CO5 - Early seizure onset in TSC: probing for prognostic markers. A. Mingarelli (Milan, Italy)
4.15pm: CO6 - Grin1-related early onset encephalopathy, a distinct NMDA receptor dysfunction. C. Fons (Barcelona, Spain)
4.30pm: Break and posters visit / pause et visite des posters
5.00pm: CO7 - Long term follow-up in two families with adenylosuccinate lyase (ADSL) deficiency and genotype-phenotype correlations through a revision of literature. S. Masnada (Pavia, Italy)
5.15pm: CO8 - Therapeutic cannabinoids in paediatric neurological diseases: experience from a Tertiary Referral Center.
E. De Grandis (Genoa, Italy)
5.30pm: CO9 - Assessment of ADHD in a cohort of children and adolescents with epilepsy. C. Francesca (Milano, Italy)
5.45pm: CO10 - Automatic imitation in young patients with Gilles de la Tourette syndrome: a case control study. C. Termine (Varese, Italy)
6.00pm: CO11 - Cerebral Visual Impairments and Autism Spectrum Disorder. S. Chokron (Paris, France)
6.15pm: CO12 - Corpus Callosum Agenesis and Interhemispheric Cysts: epileptic evaluation and long-term outcome in 30 children. S. Uccella (Genoa, Italy)
6.30pm: SENP general assembly
8.30pm: Gala dinner
SATURDAY, APRIL 28TH: “TREATABLE METABOLIC / DEGENERATIVE DISEASES WITH EPILEPSY”
Lectures / conférences 8.30am: Vitamin-responsive conditions. - Carmen Fons (Barcelona, Spain)
9.00am: Glut 1 DS: very rare disease or underdiagnosed syndrome? - Pierangelo Veggiotti (Milano, Italy)
9.30am: Lafora and NCL: cures at last? - Berge Minassian (Dallas, USA)
10.15am: Discussion
10.30am: Break and posters visit
Clinical cases discussion and oral communications
11.00am: DDC2 – Bulbar palsy with sensorial impairment: an amazing outcome!! A. Roubertie (Montpellier, France)
11.30am: CO13 – A new neurodegenerative disease of childhood. F. Bastos (Lausanne, Suisse)
11.45am: CO14 – Analyse de la biopsie de peau dans les lipofuscinoses céroïdes. A. Bernabe Gelot (Paris, France)
12.00pm: CO15 – Neurotransmitter depletion in Early Epileptic Encephalopathies and possible therapeutic options.
C. Molina Anguita (Barcelona, Spain)
12.15pm: CO16 – GLUT1-DS in a girl with transitory abnormal eye movements and seizures responding to carbamazepine. E. Coelho De Oliviera Koch (Geneva, Suisse)
12.30pm: Lunch 12.30pm: BioMarin's working lunch
Oral communications
1.30pm: CO17 – Neurolpathological effects of enzyme replacement therapy in Gaucher type 3 patients: report of two cases. A. Bernabe Gelot (Paris, France)
1.45pm: CO18 – Hydrocephalus in children: about 75 cases. A. Laayouni (Sousse, Tunisia)
2.00pm: CO19 – L’ataxie congénitale peut révéler une maladie de la déglycosylation liée à NGLY1. D. Rodriguez (Paris, France)
2.15pm: CO20 – SEPN1-related myopathy: description of two new patients. G. Delplancq (Besançon, France)
2.30pm: CO21 – Sine causa tetraparesis: a pilot study on its possible relationship with interferon signature analysis and Aicardi Goutieres Syndrome related genes analysis. F. Gavazzi (Brescia, Italy)
2.45pm: Research projects
4.30pm: End of the congress
