Universitą degli studi di Pavia
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Novara research activity
The main theme of the research project is "The study of cryptic CNVs (Copy Number Variations) in patients with epilepsy, in some cases associated with cortical development abnormalities."
Epilepsy is a chronic neurological syndrome characterized by recurrent crises that do not always last a lifetime. It’s one of the most common neurological disorder with a prevalence of about 1% in the general population and an incidence that varies according to age (20-70 cases per 100,000 per year). According to the database Online Mendelian Inheritance in Men (OMIM) the epilepsy is not present as a primary character, but as a possible secondary clinical feature in more than 200 disorders with Mendelian inheritance: many of these disorders are associated with DNA mutations or with changes in the number of copies of specific chromosomal regions (CNVs or Copy Number Variations). To date, however, the etiology of the disease remains unknown in most cases.
The main recurrent rearrangements known as important genetic factors predisposing to epilepsy identified to date are: 15q13.3, 16p13.11, and 15q11.2 microdeletions (de Kovel et al, 2009; Helbig et al, 2009). Other recurrent microdeletions associated with epilepsy but detected less frequently than 15q13.3, 15q11.2, and 16p13.11 deletions, are specific hotspots located at 1q21.1, 16p11.2 and 22q11.2 regions (de Kovel et al. 2010; Mefford et al., 2010).
My personal contribution to finding cryptic CNVs in these years of PhD is derived from the study of a cohort of patients (about 300) with epilepsy coming from different Neuropsychiatry centers that allowed me to identify the presence of new cryptic CNVs associated to the phenotype of patients. To date cryptic CNVs were identified in approximately 16% of analyzed patients by array-CGH.
Epilepsy is a chronic neurological syndrome characterized by recurrent crises that do not always last a lifetime. It’s one of the most common neurological disorder with a prevalence of about 1% in the general population and an incidence that varies according to age (20-70 cases per 100,000 per year). According to the database Online Mendelian Inheritance in Men (OMIM) the epilepsy is not present as a primary character, but as a possible secondary clinical feature in more than 200 disorders with Mendelian inheritance: many of these disorders are associated with DNA mutations or with changes in the number of copies of specific chromosomal regions (CNVs or Copy Number Variations). To date, however, the etiology of the disease remains unknown in most cases.
The main recurrent rearrangements known as important genetic factors predisposing to epilepsy identified to date are: 15q13.3, 16p13.11, and 15q11.2 microdeletions (de Kovel et al, 2009; Helbig et al, 2009). Other recurrent microdeletions associated with epilepsy but detected less frequently than 15q13.3, 15q11.2, and 16p13.11 deletions, are specific hotspots located at 1q21.1, 16p11.2 and 22q11.2 regions (de Kovel et al. 2010; Mefford et al., 2010).
My personal contribution to finding cryptic CNVs in these years of PhD is derived from the study of a cohort of patients (about 300) with epilepsy coming from different Neuropsychiatry centers that allowed me to identify the presence of new cryptic CNVs associated to the phenotype of patients. To date cryptic CNVs were identified in approximately 16% of analyzed patients by array-CGH.
