Investigation of the susceptibility to epilepsy in a mouse model of mental retardation

Smith, Deborah Anne (2013). Investigation of the susceptibility to epilepsy in a mouse model of mental retardation. University of Birmingham. M.Res.

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Mental retardation is characterised by limitations in intellectual function and adaptive behaviour with an IQ of <70. The OPHN1 gene, located on the X chromosome, is involved in the regulation of RhoA, RAc and Cdc42 activity.

Evidence suggests that patients with OPHN1 mutations may possess a susceptibility to seizures, with a trigger required to induce epileptogenesis. We aimed to investigate the susceptibility to seizure development in Ophn-1\(^{-/y}\) and Ophn-1\(^{+/y}\) mice using both in vivo and in vitro techniques. Mice were implanted with electroencephalography (EEG) transmitters and epilepsy induced through staged doses of kainic acid (KA).

The post-KA latency to spontaneous seizure development was measured for comparison between genotypes. in vitro, the elevated potassium model of epilepsy was used to induce seizure like events in hippocampal brain slices. The latency to seizure development, length of seizure and frequency of ictal bursts were measured and compared between genotypes. Results indicated no significant differences between seizure development in either genotype both in vivo and in vitro, with large variation found within genotypes. Ophn-1\(^{-/y}\) mice showed wild running/jumping at a lower dose of KA than Ophn-1\(^{+/y}\) mice.

Type of Work: Thesis (Masters by Research > M.Res.)
Award Type: Masters by Research > M.Res.
College/Faculty: Colleges (2008 onwards) > College of Medical & Dental Sciences
School or Department: School of Clinical and Experimental Medicine
Funders: Biotechnology and Biological Sciences Research Council
Subjects: R Medicine > R Medicine (General)


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