Complex single gene disorders and epilepsy.

2.50
Hdl Handle:
http://hdl.handle.net/10147/252479
Title:
Complex single gene disorders and epilepsy.
Authors:
Merwick, Aine; O'Brien, Margaret; Delanty, Norman
Affiliation:
Epilepsy Programme, Department of Neurology, Beaumont Hospital and Royal College of Surgeons in Ireland, Dublin, Ireland.
Citation:
Complex single gene disorders and epilepsy. 2012, 53 Suppl 4:81-91 Epilepsia
Journal:
Epilepsia
Issue Date:
Sep-2012
URI:
http://hdl.handle.net/10147/252479
DOI:
10.1111/j.1528-1167.2012.03617.x
PubMed ID:
22946725
Abstract:
Epilepsy is a heterogeneous group of disorders, often associated with significant comorbidity, such as intellectual disability and skin disorder. The genetic underpinnings of many epilepsies are still being elucidated, and we expect further advances over the coming 5 years, as genetic technology improves and prices fall for whole exome and whole genome sequencing. At present, there are several well-characterized complex epilepsies associated with single gene disorders; we review some of these here. They include well-recognized syndromes such as tuberous sclerosis complex, epilepsy associated with Rett syndrome, some of the progressive myoclonic epilepsies, and novel disorders such as epilepsy associated with mutations in the PCDH 19 gene. These disorders are important in informing genetic testing to confirm a diagnosis and to permit better understanding of the variability in phenotype-genotype correlation.
Item Type:
Article
Language:
en
MeSH:
Angelman Syndrome; Cadherins; Classical Lissencephalies and Subcortical Band Heterotopias; Epilepsy; Genetic Diseases, Inborn; Genetic Diseases, X-Linked; Humans; Lafora Disease; MERRF Syndrome; Neurofibromatoses; Rett Syndrome; Tuberous Sclerosis; Unverricht-Lundborg Syndrome
ISSN:
1528-1167

Full metadata record

DC FieldValue Language
dc.contributor.authorMerwick, Aineen_GB
dc.contributor.authorO'Brien, Margareten_GB
dc.contributor.authorDelanty, Normanen_GB
dc.date.accessioned2012-11-16T15:37:34Z-
dc.date.available2012-11-16T15:37:34Z-
dc.date.issued2012-09-
dc.identifier.citationComplex single gene disorders and epilepsy. 2012, 53 Suppl 4:81-91 Epilepsiaen_GB
dc.identifier.issn1528-1167-
dc.identifier.pmid22946725-
dc.identifier.doi10.1111/j.1528-1167.2012.03617.x-
dc.identifier.urihttp://hdl.handle.net/10147/252479-
dc.description.abstractEpilepsy is a heterogeneous group of disorders, often associated with significant comorbidity, such as intellectual disability and skin disorder. The genetic underpinnings of many epilepsies are still being elucidated, and we expect further advances over the coming 5 years, as genetic technology improves and prices fall for whole exome and whole genome sequencing. At present, there are several well-characterized complex epilepsies associated with single gene disorders; we review some of these here. They include well-recognized syndromes such as tuberous sclerosis complex, epilepsy associated with Rett syndrome, some of the progressive myoclonic epilepsies, and novel disorders such as epilepsy associated with mutations in the PCDH 19 gene. These disorders are important in informing genetic testing to confirm a diagnosis and to permit better understanding of the variability in phenotype-genotype correlation.en_GB
dc.language.isoenen
dc.rightsArchived with thanks to Epilepsiaen_GB
dc.subject.meshAngelman Syndrome-
dc.subject.meshCadherins-
dc.subject.meshClassical Lissencephalies and Subcortical Band Heterotopias-
dc.subject.meshEpilepsy-
dc.subject.meshGenetic Diseases, Inborn-
dc.subject.meshGenetic Diseases, X-Linked-
dc.subject.meshHumans-
dc.subject.meshLafora Disease-
dc.subject.meshMERRF Syndrome-
dc.subject.meshNeurofibromatoses-
dc.subject.meshRett Syndrome-
dc.subject.meshTuberous Sclerosis-
dc.subject.meshUnverricht-Lundborg Syndrome-
dc.titleComplex single gene disorders and epilepsy.en_GB
dc.typeArticleen
dc.contributor.departmentEpilepsy Programme, Department of Neurology, Beaumont Hospital and Royal College of Surgeons in Ireland, Dublin, Ireland.en_GB
dc.identifier.journalEpilepsiaen_GB
dc.description.provinceLeinsteren

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