Compound heterozygosity with dominance in the Corticotropin Releasing Hormone (CRH) promoter in a case of nocturnal frontal lobe epilepsy

Journal of Sleep Research

Volumn 17, Issue 3, 2008, Pages 361-362

  Combi, Romina ^a   Ferini Strambi, Luigi ^b   Tenchini, Marialuisa ^c  

^a UNIVERSITY OF MILANO BICOCCA   (Italy)

^b VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^c UNIVERSITY OF MILAN   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN RELEASING FACTOR;

CHROMOSOME 8; ELECTROENCEPHALOGRAPHY; FRONTAL LOBE EPILEPSY; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; LETTER; NOCTURNAL SEIZURE; PATHOGENESIS; PRIORITY JOURNAL; PROMOTER REGION; REM SLEEP; SLEEP SPINDLE;

ALLELES; CHROMOSOMES, HUMAN, PAIR 8; CORTICOTROPIN-RELEASING HORMONE; DNA MUTATIONAL ANALYSIS; EPILEPSY, FRONTAL LOBE; GENE EXPRESSION; GENES, DOMINANT; GENETIC SCREENING; GENETIC VARIATION; HETEROZYGOTE DETECTION; HUMANS; PROMOTER REGIONS, GENETIC; SLEEP DISORDERS;

EID: 50049122406     PISSN: 09621105     EISSN: 13652869     Source Type: Journal    
DOI: 10.1111/j.1365-2869.2008.00674.x     Document Type: Letter

References (7)

1. Antonijevic, I. A., Murck, H., Frieboes, R., Holsboer, T. T. Steiger, A. Hyporesponsiveness of the pituitary to CRH during slow wave sleep is not mimicked by systemic GHRH. Neuroendocrinology, 1999, 69 : 88 96.
2. Combi, R., Dalpra, L., Tenchini, M. L. Ferini-Strambi, L. Autosomal dominant nocturnal frontal lobe epilepsy - a critical overview. J. Neurol., 2004a, 251 : 923 934.
3. Combi, R., Dalpra, L., Malcovati, M., Oldani, A., Tenchini, M. L. Ferini-Strambi, L. Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy. Brain Res. Bull., 2004b, 63 : 353 359.
4. Combi, R., Dalpra, L., Ferini-Strambi, L. Tenchini, M. L. Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene. Ann. Neurol., 2005, 58 : 899 904.
5. Gu, W., Bertrand, D. Steinlein, O. K. A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely. Neurosci. Lett., 2007, 422 : 74 76.
6. Oldani, A., Zucconi, M., Ferini-Strambi, L., Bizzozero, D. Smirne, S. Autosomal dominant nocturnal frontal lobe epilepsy: electroclinical picture. Epilepsia, 1996, 37 : 964 976.
7. Picard, F., Mégevand, P., Minotti, L., Kahane, P., Ryvlin, P., Seeck, M., Michel, C. Lantz, G. Intracerebral recordings of nocturnal hyperkinetic seizures: demonstration of a longer duration of the pre-seizure sleep spindle. Clin. Neurophysiol., 2007, 118 : 928 939.