Tobacco habits modulate autosomal dominant nocturnal frontal lobe epilepsy
Open accessAbstract
Mutations in neuronal nicotinic acetylcholine receptors have been demonstrated in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). The beneficial effect of nicotine administration was previously reported in one single case. We investigated the influence of the tobacco habits of 22 subjects from two pedigrees with alpha4 mutations (776ins3 and S248F). Subjects were interviewed with respect to pattern of nicotine intake and seizures. Seizure freedom was significantly associated with tobacco use (P=0.024). All seven nonsmokers with manifest ADNFLE had persistent seizures. Seizure fluctuations, including long remissions, corresponded to changes in tobacco habits in several patients. One patient who recently had begun treatment with transdermal nicotine experienced improvement. We conclude that tobacco appears to be an environmental factor that influences seizure susceptibility in ADNFLE. Inactivation by desensitization of the mutant receptors by nicotine may explain the beneficial effect. The efficacy and safety of transdermal nicotine in ADNFLE should be further explored.
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ADNFLE has at least six missense alleles in the α4 or β2 subunits.
“autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), which has at least six missense alleles in the α4 or β2 subunits (27–29).”
From Nicotine is a selective pharmacological chaperone of acetylcholine receptor number and stoichiometry. Implications for drug discovery (2009) · cites this paper as [29]
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Lester, H. A., Xiao, C., Srinivasan, R., Son, C. D., Miwa, J., Pantoja, R., Banghart, M. R., Dougherty, D. A., Goate, A. M., & Wang, J. C. (2009) · The AAPS Journal · doi:10.1208/s12248-009-9090-7 · Cited by 163 · see citing works
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- Authors
- Brodtkorb, E., & Picard, F.
- Affiliations
- Norwegian University of Science and Technology (NO)
- University of Geneva (CH)
- Corresponding author
- Brodtkorb, Eylert
- Venue
- Epilepsy & Behavior
- Publisher
- Elsevier BV
- Published
- 2006-11
- Volume
- 9
- Issue
- 3
- Pages
- 515-520
- ISSN
- 1525-5050 (ISSN-L)
- OpenAlex
- W1967131649
- Cited by
- 61
- References
- 22
- Citations by year
- 2025: 3 · 2024: 2 · 2021: 2 · 2020: 6 · 2019: 2 · 2018: 4 · 2017: 1 · 2016: 2 · 2015: 3 · 2014: 7 · 2013: 2 · 2012: 6
- FWCI
- 1.49
- Type
- journal article
- Language
- en
- Open access
- Licence
- Locations
- Epilepsy & Behavior (publishedVersion)
- PubMed (publishedVersion)
- Archive ouverte UNIGE (University of Geneva) (publishedVersion, cc-by-nc)
- Archive ouverte UNIGE (University of Geneva) (submittedVersion, cc-by-nc)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Nicotinic Acetylcholine Receptors Study
- Health Sciences › Medicine › Physiology › Smoking Behavior and Cessation
- Keywords
- autosomal dominant nocturnal frontal lobe epilepsy, nicotine, tobacco use, neuronal nicotinic acetylcholine receptors, transdermal nicotine, receptor desensitization, seizure remission, environmental risk factors
- MeSH terms
- Administration, Cutaneous, Adult, Aged, Anticonvulsants, Female, Humans, Male, Middle Aged, Mutation, Nicotine, Receptors, Nicotinic, Seizures, Sleep, Smoking, Epilepsy, Frontal Lobe
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