Cardiff University | Prifysgol Caerdydd ORCA
Online Research @ Cardiff 
WelshClear Cookie - decide language by browser settings

The role of X-linked cell adhesion molecule Protocadherin 19 in neurogenesis and synapse formation

Griffiths, Jessica 2019. The role of X-linked cell adhesion molecule Protocadherin 19 in neurogenesis and synapse formation. PhD Thesis, Cardiff University.
Item availability restricted.

[thumbnail of 2019griffithsjphd.pdf]
Preview
PDF - Accepted Post-Print Version
Available under License Creative Commons Attribution Non-commercial No Derivatives.

Download (6MB) | Preview
[thumbnail of griffithsj.pdf] PDF - Supplemental Material
Restricted to Repository staff only

Download (603kB)

Abstract

Mutations in X-linked protocadherin 19 (PCDH19) lead to EIEE9 (Early Infantile Epileptic Encephalopathy 9), a syndrome characterised by early-onset epilepsy and cognitive impairment. PCDH19 tissue mosaicism is thought to be a critical driver of the disorder as the coexistence of PCDH19-expressing and non-expressing cells is believed to disrupt cell-cell communication, leading to hyperexcitability of neurons and the epileptic phenotype. The early-onset of the disorder and the spatiotemporal expression of Pcdh19 in the developing cortex suggests a role for PCDH19 in cortical neurogenesis and synapse formation. These two processes were therefore investigated in this thesis.

Item Type: Thesis (PhD)
Date Type: Submission
Status: Unpublished
Schools: Biosciences
Subjects: Q Science > Q Science (General)
R Medicine > RC Internal medicine > RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
Date of First Compliant Deposit: 16 May 2019
Date of Acceptance: 16 May 2019
Last Modified: 27 Jul 2023 10:19
URI: https://orca.cardiff.ac.uk/id/eprint/122533

Actions (repository staff only)

Edit Item Edit Item

Downloads

Downloads per month over past year

View more statistics