Becoming a Physician Scientist in Pediatric Neurology

Course Description 1. Understand recent advances in the genetic causes and mechanisms underlying common brain malformations, focusing on polymicrogyria, lissencephaly and cortical dysplasia. 2. Understand the imaging and phenotypic spectrum for the common genetic causes of common brain malformations. 3. Understand how advances in genetics have led to a better understanding of seizure generation in focal cortical dysplasia.

Learning Objectives 1. Identify the most common genetic causes of lissencephaly, polymicrogyria and cortical dysplasia. 2. Determine the most appropriate genetic workup for children with lissencephaly, polymicrogyria and cortical dysplasia following review of clinical and imaging features.

Impact Statements

1. Recognise the imaging features of different brain malformations.
2. 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