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What causes PCDH19-epilepsy?

This honours projects seeks to develop a stronger understanding of the pathological mechanism of PCDH19-girls clustering epilepsy.

Mutations in the X-linked PCDH19 gene are a leading cause of genetic epilepsy. PCDH19-Girls Clustering Epilepsy (PCDH19- GCE) has a unique form of X-linked inheritance as carrier (heterozygous) females are affected while carrier (hemizygous) males are not. 

Affected girls suffer from seizures of variable severity and some also have intellectual disability and/or autism. PCDH19 is a transmembrane protein that enables cells to ‘stick together’ during brain development. 

Using CRISPR mouse models, we have recently shown that PCDH19 heterozygous female mice have elevated brain activity and that the neurons cluster abnormally during development.

The aim of this project is understand how PCDH19 mutations cause epilepsy at the cellular and molecular level. We will firstly use fluorescence immunodetection methods to identify the neural subtypes that express PCDH19. 

Using conditional mouse models and cutting-edge in utero electroporation, we will delete PCDH19 from specific neuronal cells and assess the impact on brain activity and development. Primary neuronal cultures of normal and mutant cells will also be used to determine PCDH19 function in synapse formation and neuronal activity.

Research techniques include mouse handling, PCR, cell culture, histology and immunofluorescence.

Professor Paul Thomas

Supervisors

Professor Paul Thomas

Co-supervisorDr Stefka Tasheva

Research area: Genome editing

Recommended honours enrolment: Honours in Molecular and Biomedical Science

Tagged in Honours projects - Molecular and biomedical science, Honours projects - Paul Thomas, Honours projects - Stefka Tasheva, Honours projects - Molecular and biomedical science: Biochemistry