A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

Ortrud K. Steinlein; John C. Mulley; Peter Propping; Robyn H. Wallace; Hilary A. Phillips; Grant R. Sutherland; Ingrid E. Scheffer; Samuel F. Berkovic

doi:10.1038/ng1095-201

A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

Nature Genetics ◽

10.1038/ng1095-201 ◽

1995 ◽

Vol 11 (2) ◽

pp. 201-203 ◽

Cited By ~ 747

Author(s):

Ortrud K. Steinlein ◽

John C. Mulley ◽

Peter Propping ◽

Robyn H. Wallace ◽

Hilary A. Phillips ◽

...

Keyword(s):

Missense Mutation ◽

Frontal Lobe ◽

Acetylcholine Receptor ◽

Nicotinic Acetylcholine Receptor ◽

Autosomal Dominant ◽

Neuronal Nicotinic Acetylcholine Receptor ◽

Frontal Lobe Epilepsy ◽

Nicotinic Acetylcholine ◽

Nocturnal Frontal Lobe Epilepsy

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Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families

Journal of Neurology ◽

10.1007/s00415-002-0763-8 ◽

2002 ◽

Vol 249 (8) ◽

pp. 967-974 ◽

Cited By ~ 21

Author(s):

Maria Teresa Bonati ◽

Romina Combi ◽

Rosanna Asselta ◽

Stefano Duga ◽

Massimo Malcovati ◽

...

Keyword(s):

Frontal Lobe ◽

Acetylcholine Receptor ◽

Nicotinic Acetylcholine Receptor ◽

Autosomal Dominant ◽

Neuronal Nicotinic Acetylcholine Receptor ◽

Frontal Lobe Epilepsy ◽

Receptor Subunit ◽

Nicotinic Acetylcholine ◽

Nocturnal Frontal Lobe Epilepsy

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Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor

Epilepsy & Behavior ◽

10.1016/j.yebeh.2008.04.017 ◽

2008 ◽

Vol 13 (2) ◽

pp. 361-365 ◽

Cited By ~ 14

Author(s):

Yong-Won Cho ◽

Sang-Doe Yi ◽

Jeong-Geun Lim ◽

Dae-Kwang Kim ◽

Gholam K. Motamedi

Keyword(s):

Frontal Lobe ◽

Acetylcholine Receptor ◽

Nicotinic Acetylcholine Receptor ◽

Memory Impairment ◽

Autosomal Dominant ◽

Neuronal Nicotinic Acetylcholine Receptor ◽

Frontal Lobe Epilepsy ◽

Nicotinic Acetylcholine ◽

Nocturnal Frontal Lobe Epilepsy

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Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy

British Journal of Pharmacology ◽

10.1038/sj.bjp.0702154 ◽

1998 ◽

Vol 125 (4) ◽

pp. 751-760 ◽

Cited By ~ 97

Author(s):

S Bertrand ◽

S Weiland ◽

S F Berkovic ◽

O K Steinlein ◽

D Bertrand

Keyword(s):

Frontal Lobe ◽

Acetylcholine Receptor ◽

Nicotinic Acetylcholine Receptor ◽

Autosomal Dominant ◽

Neuronal Nicotinic Acetylcholine Receptor ◽

Frontal Lobe Epilepsy ◽

Nicotinic Acetylcholine ◽

Nocturnal Frontal Lobe Epilepsy

Download Full-text

Mutational Analysis of Nicotinic Acetylcholine Receptor β2 Subunit Gene (CHRNB2) in a Representative Cohort of Italian Probands Affected by Autosomal Dominant Nocturnal Frontal Lobe Epilepsy

Epilepsia ◽

10.1046/j.1528-1157.2002.39001.x ◽

2002 ◽

Vol 43 (4) ◽

pp. 362-364 ◽

Cited By ~ 9

Author(s):

Stefano Duga ◽

Rosanna Asselta ◽

Maria Teresa Bonati ◽

Massimo Malcovati ◽

Leda Dalprà ◽

...

Keyword(s):

Frontal Lobe ◽

Acetylcholine Receptor ◽

Nicotinic Acetylcholine Receptor ◽

Autosomal Dominant ◽

Mutational Analysis ◽

Frontal Lobe Epilepsy ◽

Subunit Gene ◽

Nicotinic Acetylcholine ◽

Nocturnal Frontal Lobe Epilepsy ◽

Representative Cohort

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Original article A transcript coding for a partially duplicated form of α7 nicotinic acetylcholine receptor is absent from the CD4 + T-lymphocytes of patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)

Folia Neuropathologica ◽

10.5114/fn.2013.34198 ◽

2013 ◽

Vol 1 ◽

pp. 65-75 ◽

Cited By ~ 9

Author(s):

Agata Rozycka ◽

Jolanta Dorszewska ◽

Barbara Steinborn ◽

Bartosz Kempisty ◽

Margarita Lianeri ◽

...

Keyword(s):

T Lymphocytes ◽

Frontal Lobe ◽

Acetylcholine Receptor ◽

Nicotinic Acetylcholine Receptor ◽

Autosomal Dominant ◽

Frontal Lobe Epilepsy ◽

Α7 Nicotinic Acetylcholine Receptor ◽

Nicotinic Acetylcholine ◽

Nocturnal Frontal Lobe Epilepsy

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A major role of the nicotinic acetylcholine receptor gene CHRNA2 in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is unlikely

Neuroscience Letters ◽

10.1016/j.neulet.2007.06.006 ◽

2007 ◽

Vol 422 (1) ◽

pp. 74-76 ◽

Cited By ~ 14

Author(s):

Wenli Gu ◽

Daniel Bertrand ◽

Ortrud K. Steinlein

Keyword(s):

Frontal Lobe ◽

Acetylcholine Receptor ◽

Nicotinic Acetylcholine Receptor ◽

Autosomal Dominant ◽

Receptor Gene ◽

Frontal Lobe Epilepsy ◽

Nicotinic Acetylcholine ◽

Nocturnal Frontal Lobe Epilepsy ◽

Acetylcholine Receptor Gene

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Revisiting autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) mutations in the nicotinic acetylcholine receptor reveal an increase in efficacy regardless of stochiometry

Pharmacological Research ◽

10.1016/j.phrs.2018.11.031 ◽

2019 ◽

Vol 139 ◽

pp. 215-227 ◽

Cited By ~ 1

Author(s):

Dinesh C. Indurthi ◽

Taima Qudah ◽

Vivian W. Liao ◽

Philip K. Ahring ◽

Trevor M. Lewis ◽

...

Keyword(s):

Frontal Lobe ◽

Acetylcholine Receptor ◽

Nicotinic Acetylcholine Receptor ◽

Autosomal Dominant ◽

Frontal Lobe Epilepsy ◽

Nicotinic Acetylcholine ◽

Nocturnal Frontal Lobe Epilepsy

Download Full-text

Mutations Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Affect Allosteric Ca2+ Activation of the α4β2 Nicotinic Acetylcholine Receptor

Molecular Pharmacology ◽

10.1124/mol.105.011155 ◽

2005 ◽

Vol 68 (2) ◽

pp. 487-501 ◽

Cited By ~ 28

Author(s):

Nivalda O. Rodrigues-Pinguet ◽

Thierry J. Pinguet ◽

Antonio Figl ◽

Henry A. Lester ◽

Bruce N. Cohen

Keyword(s):

Frontal Lobe ◽

Acetylcholine Receptor ◽

Nicotinic Acetylcholine Receptor ◽

Autosomal Dominant ◽

Frontal Lobe Epilepsy ◽

Nicotinic Acetylcholine ◽

Nocturnal Frontal Lobe Epilepsy

Download Full-text

Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: ‘understanding the nicotinic acetylcholine receptor (nAChR)’

European Journal of Paediatric Neurology ◽

10.1016/j.ejpn.2004.12.006 ◽

2005 ◽

Vol 9 (2) ◽

pp. 59-66 ◽

Cited By ~ 12

Author(s):

G. di Corcia ◽

A. Blasetti ◽

M. De Simone ◽

A. Verrotti ◽

F. Chiarelli

Keyword(s):

Frontal Lobe ◽

Acetylcholine Receptor ◽

Nicotinic Acetylcholine Receptor ◽

Autosomal Dominant ◽

Frontal Lobe Epilepsy ◽

Nicotinic Acetylcholine ◽

Nocturnal Frontal Lobe Epilepsy ◽

Recent Advances

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A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in a Chinese patient with non-familial nocturnal frontal lobe epilepsy

Epilepsy Research ◽

10.1016/j.eplepsyres.2014.08.024 ◽

2014 ◽

Vol 108 (10) ◽

pp. 1927-1931 ◽

Cited By ~ 8

Author(s):

Meng-yang Wang ◽

Xing-zhou Liu ◽

Jing Wang ◽

Li-wen Wu

Keyword(s):

Frontal Lobe ◽

Acetylcholine Receptor ◽

Nicotinic Acetylcholine Receptor ◽

Novel Mutation ◽

Receptor Gene ◽

Chinese Patient ◽

Frontal Lobe Epilepsy ◽

Nicotinic Acetylcholine ◽

Nocturnal Frontal Lobe Epilepsy ◽

Acetylcholine Receptor Gene

Download Full-text