Ph.d. student / Ph.d. studerende
Epilepsy and genetics. Searching for new genes associated with epilepsy, mental retardation and co-morbidity
Mental retardation is often associated with co-morbidities such as epilepsy, ADHD and autism spectrum disorders.
Among people with intellectual disabilities the prevalence of epilepsy is ~20 % and the prevalence of neuro-psychiatric co-morbidity is up to ~ 60 %. Only ~1-2 % of all epilepsy cases are monogenic and an interaction between normal and rare gene variants is thought to be responsible for disease development, progression and resistance to pharmacological treatment. Several studies have indicated a physiological/genetic dysfunction underlying both the epilepsy and the co-morbidity.
In this study, we will use whole-genome screening of patient DNA to detect disease causing gene variants. Both Affymetrix SNP_6 array and high throughput sequencing (Solexa) is performed on patient DNA to detect microdeletions, duplications, SNP’s and also larger chromosome rearrangements. In addition, classical cytogenetic methods such as karyotyping and FISH are used. Genes associated with disease will be examined by searching the relevant web resources and by expression analysis such as qRT-PCR and ISH.
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