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https://hdl.handle.net/2440/28009
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Full metadata record
DC Field | Value | Language |
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dc.contributor.author | Phillips, H. | - |
dc.contributor.author | Marini, C. | - |
dc.contributor.author | Scheffer, I. | - |
dc.contributor.author | Sutherland, G. | - |
dc.contributor.author | Mulley, J. | - |
dc.contributor.author | Berkovic, S. | - |
dc.date.issued | 2000 | - |
dc.identifier.citation | Annals of Neurology, 2000; 48(8):264-267 | - |
dc.identifier.issn | 0364-5134 | - |
dc.identifier.issn | 1531-8249 | - |
dc.identifier.uri | http://hdl.handle.net/2440/28009 | - |
dc.description | Copyright © 2000 by the American Neurological Association | - |
dc.description.abstract | Autosomal dominant nocturnal frontal lobe epilepsy is sometimes due to mutations in CHRNA4. The commoner presentation of sporadic nocturnal frontal lobe epilepsy has not been associated with genetic defects. A 30-year-old woman diagnosed as having sporadic nocturnal frontal lobe epilepsy was found to have a de novo Ser252Leu CHRNA4 mutation. A pattern is emerging of site-specific mutation within the second transmembrane domain of CHRNA4 in association with autosomal dominant nocturnal frontal lobe epilepsy and sporadic nocturnal frontal lobe epilepsy in families with different ethnic backgrounds. | - |
dc.description.statementofresponsibility | H. A. Phillips, C. Marini, I. E. Scheffer, G. R. Sutherland, J. C. Mulley, S. F. Berkovic | - |
dc.language.iso | en | - |
dc.publisher | Lippincott Williams & Wilkins | - |
dc.source.uri | http://dx.doi.org/10.1002/1531-8249(200008)48:2%3C264::aid-ana20%3E3.0.co;2-b | - |
dc.subject | Humans | - |
dc.subject | Epilepsy, Frontal Lobe | - |
dc.subject | Pedigree | - |
dc.subject | DNA Mutational Analysis | - |
dc.subject | Mutation | - |
dc.subject | Adult | - |
dc.subject | Female | - |
dc.subject | Sleep Wake Disorders | - |
dc.title | A de novo mutation in sporadic nocturnal frontal lobe epilepsy | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1002/1531-8249(200008)48:2<264::AID-ANA20>3.0.CO;2-B | - |
pubs.publication-status | Published | - |
Appears in Collections: | Aurora harvest 6 Molecular and Biomedical Science publications |
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