Genetic disorders caused by mutated acetylcholine receptors

Life Sciences

Volumn 80, Issue 24-25, 2007, Pages 2186-2190

  Steinlein, Ortrud K ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

ADNFLE; Congenital myasthenia; Escobar syndrome; Frontal lobe epilepsy

Indexed keywords

ACETYLCHOLINE; CHOLINERGIC RECEPTOR; LIGAND; NICOTINE; NICOTINIC RECEPTOR;

ARTHROGRYPOSIS; ARTICLE; CONGENITAL MYASTHENIC SYNDROME; ESCOBAR SYNDROME; FRONTAL LOBE EPILEPSY; GENE MUTATION; GENETIC DISORDER; HUMAN; SYNDROME;

EPILEPSY, FRONTAL LOBE; GENETIC DISEASES, INBORN; HUMANS; MODELS, BIOLOGICAL; MUTATION; MYASTHENIC SYNDROMES, CONGENITAL; RECEPTORS, NICOTINIC;

EID: 34249290032     PISSN: 00243205     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.lfs.2007.03.007     Document Type: Article

References (23)

1. Abicht A., Stucka R., Karcagi V., Herczegfalvi A., Horvath R., Mortier W., Schara U., Ramaekers V., Jost W., Brunner J., Janssen G., Seidel U., Schlotter B., Muller-Felber W., Pongratz D., Rudel R., and Lochmuller H. A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. Neurology 53 7 (1999) 1564-1569
2. Aridon P., Marini C., Di Resta C., Brilli E., De Fusco M., Politi F., Parrini E., Manfredi I., Pisano T., Pruna D., Curia G., Cianchetti C., Pasqualetti M., Becchetti A., Guerrini R., and Casari G. Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. American Journal of Human Genetics 79 2 (2006) 342-350
3. Bertrand D., Picard F., Le Hellard S., Weiland S., Favre I., Phillips H., Bertrand S., Berkovic S.F., Malafosse A., and Mulley J. How mutations in the nAChRs can cause ADNFLE epilepsy. Epilepsia 43 Suppl 5 (2002) 112-122
4. Bertrand D., Elmslie F., Hughes E., Trounce J., Sander T., Bertrand S., and Steinlein O.K. The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. Neurobiology of Disease 20 3 (2005) 799-804
5. Cho Y.W., Motamedi G.K., Laufenberg I., Sohn S.I., Lim J.G., Lee H., Yi S.D., Lee J.H., Kim D.K., Reba R., Gaillard W.D., Theodore W.H., Lesser R.P., and Steinlein O.K. A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. Archives of Neurology 60 11 (2003) 1625-1632
6. Combi R., Dalpra L., Tenchini M.L., and Ferini-Strambi L. Autosomal dominant nocturnal frontal lobe epilepsy-a critical overview. Journal of Neurology 251 8 (2004) 923-934
7. Croxen R., Newland C., Betty M., Vincent A., Newsom-Davis J., and Beeson D. Novel functional epsilon-subunit polypeptide generated by a single nucleotide deletion in acetylcholine receptor deficiency congenital myasthenic syndrome. Annals of Neurology 46 4 (1999) 639-647
8. De Fusco M., Becchetti A., Patrignani A., Annesi G., Gambardella A., Quattrone A., Ballabio A., Wanke E., and Casari G. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nature Genetics 26 3 (2000) 275-276
9. Engel A.G., and Sine S.M. Current understanding of congenital myasthenic syndromes. Current Opinion in Pharmacology 5 3 (2005) 308-321
10. Han Z.Y., Le Novere N., Zoli M., Hill Jr. J.A., Champtiaux N., and Changeux J.P. Localization of nAChR subunit mRNAs in the brain of Macaca mulatta. European Journal of Neuroscience 12 10 (2000) 3664-3674
11. Hirose S., Iwata H., Akiyoshi H., Kobayashi K., Ito M., Wada K., Kaneko S., and Mitsudome A. A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology 53 8 (1999) 1749-1753
12. Hoffmann K., Muller J.S., Stricker S., Megarbane A., Rajab A., Lindner T.H., Cohen M., Chouery E., Adaimy L., Ghanem I., Delague V., Boltshauser E., Talim B., Horvath R., Robinson P.N., Lochmuller H., Hubner C., and Mundlos S. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. American Journal of Human Genetics 79 2 (2006) 303-312
13. Leniger T., Kananura C., Hufnagel A., Bertrand S., Bertrand D., and Steinlein O.K. A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy. Epilepsia 44 7 (2003) 981-985
14. Magnusson A., Stordal E., Brodtkorb E., and Steinlein O. Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations. Psychiatric Genetics 13 2 (2003) 91-95
15. Morgan N.V., Brueton L.A., Cox P., Greally M.T., Tolmie J., Pasha S., Aligianis I.A., van Bokhoven H., Marton T., Al-Gazali L., Morton J.E., Oley C., Johnson C.A., Trembath R.C., Brunner H.G., and Maher E.R. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. American Journal of Human Genetics 79 2 (2006) 390-395
16. Ohno K., Engel A.G., Shen X.M., Selcen D., Brengman J., Harper C.M., Tsujino A., and Milone M. Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome. American Journal of Human Genetics 70 4 (2002) 875-885
17. 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., and Mulley J.C. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. American Journal of Human Genetics 68 1 (2001) 225-231
18. Provini F., Plazzi G., Montagna P., and Lugaresi E. The wide clinical spectrum of nocturnal frontal lobe epilepsy. Sleep Medicine Review 4 4 (2000) 375-386
19. Scheffer I.E., Bhatia K.P., Lopes-Cendes I., Fish D.R., Marsden C.D., Andermann E., Andermann F., Desbiens R., Keene D., and Cendes F. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain 118 1 (1995) 61-73
20. Sieb J.P., Kraner S., Rauch M., and Steinlein O.K. Immature end-plates and utrophin deficiency in congenital myasthenic syndrome caused by epsilon-AChR subunit truncating mutations. Human Genetics 107 2 (2000) 160-164
21. Steinlein O.K., Mulley J.C., Propping P., Wallace R.H., Phillips H.A., Sutherland G.R., Scheffer I.E., and Berkovic S.F. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genetics 11 2 (1995) 201-203
22. Takahashi M., Kubo T., Mizoguchi A., Carlson C.G., Endo K., and Ohnishi K. Spontaneous muscle action potentials fail to develop without fetal-type acetylcholine receptors. EMBO Report 3 7 (2002) 674-681
23. Wessler I., Kilbinger H., Bittinger F., Unger R., and Kirkpatrick C.J. The non-neuronal cholinergic system in humans: expression, function and pathophysiology. Life Sciences 72 18-19 (2003) 2055-2061