Course Description
- Understand recent advances in the genetic causes and mechanisms underlying common brain malformations, focusing on polymicrogyria, lissencephaly and cortical dysplasia.
- Understand the imaging and phenotypic spectrum for the common genetic causes of common brain malformations.
- Understand how advances in genetics have led to a better understanding of seizure generation in focal cortical dysplasia.
Learning Objectives
- Identify the most common genetic causes of lissencephaly, polymicrogyria and cortical dysplasia.
- Determine the most appropriate genetic workup for children with lissencephaly, polymicrogyria and cortical dysplasia following review of clinical and imaging features.
Impact Statements
- Recognise the imaging features of different brain malformations.
- Understand the most likely genetic causes of lissencephaly, polymicrogyria and cortical.
Organizer:
Rick Leventer, FRACP PhD; The Royal Children’s Hospital
Melbourne, Parkville, Victoria, Australia
Lissencephaly: Novel Clinical and Molecular Insights
Nataliya Di Donato, MD; Institute for Clinical Genetics,
TU Dresden, Dresden, Germany
Polymicrogyria: A Clinical and Genetically Heterogenous Malformation
Anna C. Jansen, MD, PhD; Peditiatric Neurology Unit,
UZ Brussel, Brussels, Belgium
Cortical Dysplasia: Linking Genes to Seizure Generation
Rick Leventer, FRACP PhD Conclusion & Future Directions William Dobyns, MD;
University of Washington, Seattle, Washington, USA