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.

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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Status:	Unpublished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

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