Genetic basis of autosomal dominant nocturnal frontal lobe epilepsy

Journal of Applied Genetics

Volumn 44, Issue 2, 2003, Pages 197-207

  Rózycka, Agata ^a   Trzeciak, Wiesław H ^a  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

Author keywords

Neuronal nicotinic acetylcholine receptor; Nocturnal frontal lobe epilepsy; Sodium potassium channel

Indexed keywords

CHOLINERGIC RECEPTOR; CHRNB2 PROTEIN, HUMAN; ION; LIGAND; NICOTINIC ACETYLCHOLINE RECEPTOR ALPHA4 SUBUNIT; NICOTINIC RECEPTOR;

AUSTRALIA; AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; FRONTAL LOBE EPILEPSY; GENE MUTATION; GENETIC CODE; HUMAN; ITALY; JAPAN; MOLECULAR GENETICS; NORWAY; PATHOGENESIS; POTASSIUM CHANNEL; REVIEW; SODIUM CHANNEL; SPAIN; UNITED KINGDOM; ARTICLE; BIOLOGICAL MODEL; CHEMISTRY; DOMINANT GENE; FAMILY HEALTH; FRONTAL LOBE; GENETICS; METABOLISM; MUTATION; NERVE CELL; PATHOLOGY; PHYSIOLOGY;

EPILEPSY, FRONTAL LOBE; FAMILY HEALTH; FRONTAL LOBE; GENES, DOMINANT; HUMANS; IONS; LIGANDS; MODELS, BIOLOGICAL; MODELS, GENETIC; MUTATION; NEURONS; RECEPTORS, CHOLINERGIC; RECEPTORS, NICOTINIC;

EID: 0038142324     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (30)

1. ALBUQUERQUE E.X., PEREIRA E.F., CASTRO N.G., ALKONDON M., REINHARDT S., SCHRODER H., MAELICKE A. (1995). Nicotinic receptor function in the mammalian central nervous system. Ann. NY Acad. Sci 757: 48-72.
2. AUERBACH A., AKK G. (1998). Desensitization of mouse nicotinic acetylcholine receptor channels: A two-gate mechanism. J. Gen. Physiol. 112: 181-197.
3. BEAUDET A.L., TSUI L. (1993). A suggested nomenclature for designating mutations. Hum. Mutat. 2: 245-248.
4. BERTRAND S., WEILAND S., BERCOVIC S.F., STEINLEIN O.K., BERTRAND D. (1998). Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy. Br. J. Pharmacol. 125: 751-760.
5. DUNNEN J.T, ANTONARAKIS S.E. (2000). Mutation nomenclature extension and suggestions to describe complex mutations: a discussion. Hum. Mutat. 15: 7.
6. FUSCO M., BECCHETTI A., PATRIGNANI A., ANNESI G., GAMBARDELLA A., QUATTRONE A., BALLABIO A., WANKE E., CASARI G. (2000). The nicotinic receptor beta-2 subunit is mutant in nocturnal frontal lobe epilepsy. Nature Genet. 26: 275-276.
7. GOTTI C., FORNASARI D., CLEMENTI F. (1997). Human neuronal nicotinic receptors. Prog. Neurobiol. 53: 199-237.
8. HIROSE S., IWATA H., AKIYOSHI H., KOBAYASHI K., ITO M., WADA K., KANEKO S., MITSUDOME A. (1999). A novel mutation of CHRNA4 responsible for autosomal nocturnal frontal lobe epilepsy. Neurology 999, 53: 1749-1753.
9. HIROSE S., OKADA M., KANEKO S., MITSUDOME A. (2000). Are some idiopathic epilepsies disorders of ion channels?: a working hypothesis. Epilepsy. Res. 41: 191-204.
10. KAO P., KARLIN A. (1986). Acetylcholine receptor binding site contains a disulfide crosslink between adjacent half-cystinyl residues. J. Biol. Chem. 261: 8085-8088.
11. 2+ permeability, conductance, and gating of human α4β2 nicotinic acetylcholine receptors. J. Neurosci 17: 9035-9047.
12. MATSUSHIMA N., HIROSE S., IWATA H., FUKUMA G., YONETANI M., NAGAYAMA C., HAMANAKA W., MATSUNAKA Y., ITO M., KANEKO S., MITSUDOME A., SUGIYAMA H. (2002). Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor α4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes. Epilepsy Res. 48: 181-186.
13. MC GEHEE D.S. (1999). Molecular diversity of neuronal nicotinic acetylcholine receptors. Ann NY Acad. Sci 868: 565-572.
14. OLDANI A., ZUCCONI M., ASSELTA R., MODUGNO M., BONATI M.T., DALPRA L., MALCOVATI M., TENCHINI M.L., SMIRNE S., FERINI-STRAMBI L. (1998). Autosomal dominant nocturnal frontal lobe epilepsy: A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome. Brain 121: 205-223.
15. ONLINE MENDELIAN INHERITANCE IN MAN (OMIM) (2002). http://www3.ncbi.nlm.nih.gov/omim/
16. PHILLIPS H.A., SCHEFFER I.E., CROSSLAND K.M., BHATIA K.P., FISH D.R., MARSDEN C.D., HOWELL S.J., STEPHENSON J.B., TOLMIE J., PLAZZI G., EEG-OLOFSSON O., SINGH R., LOPES-CENDES I., ANDERMANN E., ANDERMANN F., BERKOVIC S.F., MULLEY J.C. (1998). Autosomal dominant nocturnal frontal - lobe epilepsy. Genetic heterogeneity and evidence for a second locus at 15q24. AM. J. Hum. Genet. 63: 1108-1116.
17. PHILLIPS H.A., MARINI C., SCHEFFER I.E., SUTHERLAND G.R., MULLEY J.C., BERKOVIC S.F. (2000). A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann. Neurol. 48: 264-267.
18. PHILLIPS H.A., FAVRE I., KIRKPATRICK M., ZUBERI S.M., GOUDIE D., HERON S.E., SCHEFFER I.E., SUTHERLAND G.R., BERKOVIC S.F., BERTRAND D., MULLEY J.C. (2001). CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. AM. J. Hum. Genet. 168: 225-231.
19. SAENZ A., GALAN J., CALOUSTIAN C., LORENZO F., MARQUEZ C., RODRIGUEZ N., JIMENEZ M.D., POZA J.J., COBO A.M., GRID D., PRUD'HOMME J.F., LOPEZ DE MUNAIN A. (1999). Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. Arch. Neurol. 56: 1004-1009.
20. SCHEFFER I.E., BHATIA K.P., LOPES-CENDES I., FISH D.R., MARSDEN C.D., ANDERMANN F., ANDERMANN E., DESBIENS R., CENDES F., MANSON J.I. (1994). Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 343: 515-527.
21. SCHEFFER I.E., BHATIA K.P., LOPES-CENDES I., FISH D.R., MARSDEN C.D., ANDERMANN E., ANDERMANN F., DESBIENS R., KEENE D., CENDES F. (1995). Autosomal dominant nocturnal frontal lobe epilepsy: a distinctive clinical disorder. Brain 118: 61-73.
22. STEINLEIN O.K., SMIGRODZKI R., LINDSTROM J., ANAND R., KOHLER M., TOCHAROENTANAPHOL C., VOGEL F. (1994). Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor alpha-4 subunit (CHRNA4) to human chromosome 20 q13.2-q13.3. Genomics 22: 493-495.
23. STEINLEIN O.K., MULLEY J., PROPPING P., WALLACE R.H., PHILLIPS H.A., SUTHERLAND G.R., SCHEFFER I.E., BERKOVIC S.F. (1995). A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genet. 11: 201-203.
24. STEINLEIN O.K., WEILAND S., STOODT J., PROPPING P. (1996). Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha-4 subunit (CHRNA4). Genomics 32: 289-294.
25. STEINLEIN O.K., MAGNUSSON A., STOODT J., BERTRAND S., WEILAND S., BERKOVIC S.F., NAKKEN K.O., PROPPING P., BERTRAND D. (1997). An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum. Mol. Genet. 6: 943-947.
26. STEINLEIN O.K., STOODT J., MULLEY J., BERKOVIC S., SCHEFFER I.E., BRODTKORB E. (2000). Independent occurrence of the CHRNA4 Ser252Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy. Epilepsia 41: 529-535.
27. SUMMERS K.L., GIACOBINI E. (1995). Effects of local and repeated systemic administration of nicotine on extracellular levels of acetylcholine, norepinephrine, dopamine, and serotonin in rat cortex. Neurochem. Res. 20: 753-759.
28. TENCHINI M.L., DUGA S., BONATI M.T., ASSELTA R., OLDANI A., ZUCCONI M., MALCOVATI M., DALPRA L., FERINI-STRAMBI L. (1999). SER252PHE and 776INS3 mutation in the CHRNA4 gene are rare in the Italian ADNFLE population. Sleep 22: 637-639.
29. UNWIN N. (1995). Acetylcholine receptor channel imaged in the open state. Nature 373: 37-43.
30. WEILAND S., WITZEMANN V., VILLAROEL A., PROPPING P., STEINLEIN O.K. (1996). An amino acid exchange in these cond transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics. FEBS Lett. 398: 91-96.