-
1
-
-
33746578967
-
Increased sensitivity of the neuronal nicotinic receptor α 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear
-
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 α 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am. J. Hum. Genet. 79 (2006) 342-350
-
(2006)
Am. J. Hum. Genet.
, vol.79
, pp. 342-350
-
-
Aridon, P.1
Marini, C.2
Di Resta, C.3
Brilli, E.4
De Fusco, M.5
Politi, F.6
Parrini, E.7
Manfredi, I.8
Pisano, T.9
Pruna, D.10
Curia, G.11
Cianchetti, C.12
Pasqualetti, M.13
Becchetti, A.14
Guerrini, R.15
Casari, G.16
-
2
-
-
0038324277
-
A polymorphism in the α4 nicotinic receptor gene (Chrna4) modulates enhancement of nicotinic receptor function by ethanol
-
Butt C.M., Hutton S.R., Stitzel J.A., Balogh S.A., Owens J.C., and Collins A.C. A polymorphism in the α4 nicotinic receptor gene (Chrna4) modulates enhancement of nicotinic receptor function by ethanol. Alcohol. Clin. Exp. Res. 27 (2003) 733-742
-
(2003)
Alcohol. Clin. Exp. Res.
, vol.27
, pp. 733-742
-
-
Butt, C.M.1
Hutton, S.R.2
Stitzel, J.A.3
Balogh, S.A.4
Owens, J.C.5
Collins, A.C.6
-
4
-
-
4344652177
-
Autosomal dominant nocturnal frontal lobe epilepsy-a critical overview
-
Combi R., Dalpra L., Tenchini M.L., and Ferini-Strambi L. Autosomal dominant nocturnal frontal lobe epilepsy-a critical overview. J. Neurol. 251 (2004) 923-934
-
(2004)
J. Neurol.
, vol.251
, pp. 923-934
-
-
Combi, R.1
Dalpra, L.2
Tenchini, M.L.3
Ferini-Strambi, L.4
-
5
-
-
58149330464
-
CHRNA2 mutations are rare in the NFLE population: Evaluation of a large cohort of Italian patients
-
[Epub ahead of print]
-
Combi R., Ferini-Strambi L., and Luisa Tenchini M. CHRNA2 mutations are rare in the NFLE population: Evaluation of a large cohort of Italian patients. Sleep Med. January (2008) [Epub ahead of print]
-
(2008)
Sleep Med.
, Issue.January
-
-
Combi, R.1
Ferini-Strambi, L.2
Luisa Tenchini, M.3
-
6
-
-
0033763090
-
The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy
-
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. Nat. Genet. 26 (2000) 275-276
-
(2000)
Nat. Genet.
, vol.26
, pp. 275-276
-
-
De Fusco, M.1
Becchetti, A.2
Patrignani, A.3
Annesi, G.4
Gambardella, A.5
Quattrone, A.6
Ballabio, A.7
Wanke, E.8
Casari, G.9
-
7
-
-
17144409383
-
Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)"
-
Di Corcia G., Blasetti A., De Simone M., Verrotti A., and Chiarelli F. Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)". Eur. J. Paediatr. Neurol. 9 (2005) 59-66
-
(2005)
Eur. J. Paediatr. Neurol.
, vol.9
, pp. 59-66
-
-
Di Corcia, G.1
Blasetti, A.2
De Simone, M.3
Verrotti, A.4
Chiarelli, F.5
-
8
-
-
0036076383
-
A polymorphism in the mouse neuronal α4 nicotinic receptor subunit results in an alteration in receptor function
-
Dobelis P., Marks M.J., Whiteaker P., Baloqh S.A., Collins A.C., and Stitzel J.A. A polymorphism in the mouse neuronal α4 nicotinic receptor subunit results in an alteration in receptor function. Mol. Pharmacol. 62 (2002) 334-342
-
(2002)
Mol. Pharmacol.
, vol.62
, pp. 334-342
-
-
Dobelis, P.1
Marks, M.J.2
Whiteaker, P.3
Baloqh, S.A.4
Collins, A.C.5
Stitzel, J.A.6
-
9
-
-
0034957202
-
A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology
-
Engel Jr. J., and International League Against Epilepsy (ILAE). A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology. Epilepsia 42 (2001) 796-803
-
(2001)
Epilepsia
, vol.42
, pp. 796-803
-
-
Engel Jr., J.1
International League Against Epilepsy (ILAE)2
-
10
-
-
33748676917
-
Report of the ILAE classification core group
-
Engel Jr. J. Report of the ILAE classification core group. Epilepsia 47 (2006) 1558-1568
-
(2006)
Epilepsia
, vol.47
, pp. 1558-1568
-
-
Engel Jr., J.1
-
11
-
-
34447501807
-
A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely
-
Gu W., Bertrand D., and 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. 422 (2007) 74-76
-
(2007)
Neurosci. Lett.
, vol.422
, pp. 74-76
-
-
Gu, W.1
Bertrand, D.2
Steinlein, O.K.3
-
12
-
-
0033544326
-
A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy
-
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 (1999) 1749-1753
-
(1999)
Neurology
, vol.53
, pp. 1749-1753
-
-
Hirose, S.1
Iwata, H.2
Akiyoshi, H.3
Kobayashi, K.4
Ito, M.5
Wada, K.6
Kaneko, S.7
Mitsudome, A.8
-
13
-
-
34447106560
-
Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy
-
Klaassen A., Glykys J., Maguire J., Labarca C., Mody I., and Boulter J. Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy. Proc. Natl. Acad. Sci. U.S.A. 103 (2006) 19152-19157
-
(2006)
Proc. Natl. Acad. Sci. U.S.A.
, vol.103
, pp. 19152-19157
-
-
Klaassen, A.1
Glykys, J.2
Maguire, J.3
Labarca, C.4
Mody, I.5
Boulter, J.6
-
14
-
-
0038491560
-
A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy
-
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 (2003) 981-985
-
(2003)
Epilepsia
, vol.44
, pp. 981-985
-
-
Leniger, T.1
Kananura, C.2
Hufnagel, A.3
Bertrand, S.4
Bertrand, D.5
Steinlein, O.K.6
-
15
-
-
34548688700
-
The role of the nicotinic acetylcholine receptors in sleep-related epilepsy
-
Marini C., and Guerrini R. The role of the nicotinic acetylcholine receptors in sleep-related epilepsy. Biochem. Pharmacol. 74 (2007) 1308-1314
-
(2007)
Biochem. Pharmacol.
, vol.74
, pp. 1308-1314
-
-
Marini, C.1
Guerrini, R.2
-
16
-
-
0345733797
-
A4beta2* Nicotinic acetylcholine receptors modulate the effects of ethanol and nicotine on the acoustic startle response
-
Owens J.C., Balogh S.A., McClure-Begley T.D., Butt C.M., Labarca C., Lester H.A., Picciotto M.R., Wehner J.M., and Collins A.C. A4beta2* Nicotinic acetylcholine receptors modulate the effects of ethanol and nicotine on the acoustic startle response. Alcohol. Clin. Exp. Res. 27 (2003) 1867-1875
-
(2003)
Alcohol. Clin. Exp. Res.
, vol.27
, pp. 1867-1875
-
-
Owens, J.C.1
Balogh, S.A.2
McClure-Begley, T.D.3
Butt, C.M.4
Labarca, C.5
Lester, H.A.6
Picciotto, M.R.7
Wehner, J.M.8
Collins, A.C.9
-
17
-
-
0029045967
-
Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2
-
Phillips H.A., Scheffer I.E., Berkovic S.F., Hollway G.E., Sutherland G.R., and Mulley J.C. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. Nat. Genet. 10 (1995) 117-118
-
(1995)
Nat. Genet.
, vol.10
, pp. 117-118
-
-
Phillips, H.A.1
Scheffer, I.E.2
Berkovic, S.F.3
Hollway, G.E.4
Sutherland, G.R.5
Mulley, J.C.6
-
18
-
-
0032231423
-
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24
-
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., and Mulley J.C. Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am. J. Hum. Genet. 63 (1998) 1108-1116
-
(1998)
Am. J. Hum. Genet.
, vol.63
, pp. 1108-1116
-
-
Phillips, H.A.1
Scheffer, I.E.2
Crossland, K.M.3
Bhatia, K.P.4
Fish, D.R.5
Marsden, C.D.6
Howell, S.J.7
Stephenson, J.B.8
Tolmie, J.9
Plazzi, G.10
Eeg-Olofsson, O.11
Singh, R.12
Lopes-Cendes, I.13
Andermann, E.14
Andermann, F.15
Berkovic, S.F.16
Mulley, J.C.17
-
19
-
-
0033854176
-
A de novo mutation in sporadic nocturnal frontal lobe epilepsy
-
Phillips H.A., Marini C., Scheffer I.E., Sutherland G.R., Mulley J.C., and Berkovic S.F. A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann. Neurol. 48 (2000) 264-267
-
(2000)
Ann. Neurol.
, vol.48
, pp. 264-267
-
-
Phillips, H.A.1
Marini, C.2
Scheffer, I.E.3
Sutherland, G.R.4
Mulley, J.C.5
Berkovic, S.F.6
-
20
-
-
0032736665
-
Nocturnal frontal lobe epilepsy. A clinical and polygraphic overview of 100 consecutive cases
-
Provini F., Plazzi G., Tinuper P., Vandi S., Lugaresi E., and Montagna P. Nocturnal frontal lobe epilepsy. A clinical and polygraphic overview of 100 consecutive cases. Brain 122 (1999) 1017-1031
-
(1999)
Brain
, vol.122
, pp. 1017-1031
-
-
Provini, F.1
Plazzi, G.2
Tinuper, P.3
Vandi, S.4
Lugaresi, E.5
Montagna, P.6
-
21
-
-
0032420191
-
The structures of the human neuronal nicotinic acetylcholine receptor beta2- and α3-subunit genes (CHRNB2 and CHRNA3)
-
Rempel N., Heyers S., Engels H., Sleegers E., and Steinlein O.K. The structures of the human neuronal nicotinic acetylcholine receptor beta2- and α3-subunit genes (CHRNB2 and CHRNA3). Hum. Genet. 103 (1998) 645-653
-
(1998)
Hum. Genet.
, vol.103
, pp. 645-653
-
-
Rempel, N.1
Heyers, S.2
Engels, H.3
Sleegers, E.4
Steinlein, O.K.5
-
22
-
-
0041570078
-
Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy
-
Rozycka A., Skorupska E., Kostyrko A., and Trzeciak W.H. Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia 44 (2003) 1113-1117
-
(2003)
Epilepsia
, vol.44
, pp. 1113-1117
-
-
Rozycka, A.1
Skorupska, E.2
Kostyrko, A.3
Trzeciak, W.H.4
-
23
-
-
33749638202
-
Nocturnal frontal lobe epilepsy
-
Ryvlin P., Rheims S., and Risse G. Nocturnal frontal lobe epilepsy. Epilepsia 47 s2 (2006) 83-86
-
(2006)
Epilepsia
, vol.47
, Issue.SUPPL.2
, pp. 83-86
-
-
Ryvlin, P.1
Rheims, S.2
Risse, G.3
-
24
-
-
0028011992
-
Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder
-
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., and Berkovic S.F. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 343 (1994) 515-517
-
(1994)
Lancet
, vol.343
, pp. 515-517
-
-
Scheffer, I.E.1
Bhatia, K.P.2
Lopes-Cendes, I.3
Fish, D.R.4
Marsden, C.D.5
Andermann, F.6
Andermann, E.7
Desbiens, R.8
Cendes, F.9
Manson, J.I.10
Berkovic, S.F.11
-
25
-
-
0029866498
-
Exon-intron structure of the human neuronal nicotinic acetylcholine receptor α 4 subunit (CHRNA4)
-
Steinlein O., Weiland S., Stoodt J., and Propping P. Exon-intron structure of the human neuronal nicotinic acetylcholine receptor α 4 subunit (CHRNA4). Genomics 32 (1996) 289-294
-
(1996)
Genomics
, vol.32
, pp. 289-294
-
-
Steinlein, O.1
Weiland, S.2
Stoodt, J.3
Propping, P.4
-
26
-
-
0028980028
-
A missense mutation in the neuronal nicotinic acetylcholine receptor α 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
-
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 α 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat. Genet. 11 (1995) 201-203
-
(1995)
Nat. Genet.
, vol.11
, pp. 201-203
-
-
Steinlein, O.K.1
Mulley, J.C.2
Propping, P.3
Wallace, R.H.4
Phillips, H.A.5
Sutherland, G.R.6
Scheffer, I.E.7
Berkovic, S.F.8
-
27
-
-
0030916583
-
An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy
-
Steinlein O.K., Magnusson A., Stoodt J., Bertrand S., Weiland S., Berkovic S.F., Nakken K.O., Propping P., and Bertrand D. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum. Mol. Genet. 6 (1997) 943-947
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 943-947
-
-
Steinlein, O.K.1
Magnusson, A.2
Stoodt, J.3
Bertrand, S.4
Weiland, S.5
Berkovic, S.F.6
Nakken, K.O.7
Propping, P.8
Bertrand, D.9
-
28
-
-
0034098251
-
Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy
-
Steinlein O.K., Stoodt J., Mulley J., Berkovic S., Scheffer I.E., and Brodtkorb E. Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy. Epilepsia 41 (2000) 529-535
-
(2000)
Epilepsia
, vol.41
, pp. 529-535
-
-
Steinlein, O.K.1
Stoodt, J.2
Mulley, J.3
Berkovic, S.4
Scheffer, I.E.5
Brodtkorb, E.6
-
29
-
-
34249290032
-
Genetic disorders caused by mutated acetylcholine receptors
-
Steinlein O.K. Genetic disorders caused by mutated acetylcholine receptors. Life Sci. 80 (2007) 2186-2190
-
(2007)
Life Sci.
, vol.80
, pp. 2186-2190
-
-
Steinlein, O.K.1
-
30
-
-
34548689392
-
Human disorders caused by the disruption of the regulation of excitatory neurotransmission
-
Steinlein O.K. Human disorders caused by the disruption of the regulation of excitatory neurotransmission. Results Probl. Cell Differ. 44 (2008) 223-242
-
(2008)
Results Probl. Cell Differ.
, vol.44
, pp. 223-242
-
-
Steinlein, O.K.1
-
31
-
-
0034966233
-
Long sleep and short sleep mice differ in nicotine-stimulated 86Rb+ efflux and α4 nicotinic receptor subunit cDNA sequence
-
Stitzel J.A., Dobelis P., Jimenez M., and Collins A.C. Long sleep and short sleep mice differ in nicotine-stimulated 86Rb+ efflux and α4 nicotinic receptor subunit cDNA sequence. Pharmacogenetics 11 (2001) 331-339
-
(2001)
Pharmacogenetics
, vol.11
, pp. 331-339
-
-
Stitzel, J.A.1
Dobelis, P.2
Jimenez, M.3
Collins, A.C.4
|