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|Title:||A de novo mutation in sporadic nocturnal frontal lobe epilepsy|
|Citation:||Annals of Neurology, 2000; 48(8):264-267|
|Publisher:||Lippincott Williams & Wilkins|
|H. A. Phillips, C. Marini, I. E. Scheffer, G. R. Sutherland, J. C. Mulley, S. F. Berkovic|
|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.|
Epilepsy, Frontal Lobe
DNA Mutational Analysis
Sleep Wake Disorders
|Description:||Copyright © 2000 by the American Neurological Association|
|Appears in Collections:||Aurora harvest 6|
Molecular and Biomedical Science publications
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