Emerging Role of Somatic Mutations in Neurology

Date/Time: Monday, October 24, 2022 - 8:45 AM – 10:45 AM
Track: Plenary Session
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In this plenary session, we will discuss the recently recognized role of somatic (post-zygotic) mutation in neurological conditions across the lifespan. We will discuss somatic mutation in the context of cancer, where it was recognized early to play a role in disease. We will then discuss somatic mutation that, in the developing brain, leads to childhood neurodevelopmental disorders, such as epilepsy and autism. We will then discuss somatic mutation that occurs in post-mitotic neurons in normal aging and in neurodegenerative disease. Finally, we will outline a path to translation from gene discovery to pre-clinical models of mosaic neurological disorders.

Chair: Annapurna Poduri, MD, MPH

Co-Chair: Sattar Khoshkhoo, MD


  • To understand that somatic mutation occurs as a normal process during development and post-natally and has a role outside of cancer.
  • To understand the extent to which somatic mutation influences normal development and aging as well as neurological diseases.
  • To recognize which neurological disorders are likely to have resulted from somatic mutation.
  • To understand how models of mosaic variants can lead to targeted, mechanism-based, 'precision' therapies.

Telomeres and Clonal Evolution with Aging 


Somatic Mutation in Neurodevelopmental Disorders 


Single-Cell Analysis of Somatic Mutations in the Human Brain 


Somatic Mutations and Pediatric Surgical Epilepsy: Translating Genomic Findings to Precision-Based Medicine 


Micro-Grid Recordings from the Human Hippocampal Surface Reveal Spatiotemporal Properties of Oscillations, Ripples, and Interictal Discharges

Emerging Scholar Speaker: Jonathan Kleen, MD, PhD

Hippocampal Somatic Mutations in Mesial Temporal Lobe Epilepsy

Emerging Scholar Speaker: Sattar Khoshkhoo, MD