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Pathophysiology of epilepsy.
Engelborghs S, D'Hooge R, De Deyn PP. Engelborghs S, et al. Acta Neurol Belg. 2000 Dec;100(4):201-13. Acta Neurol Belg. 2000. PMID: 11233674 Review.
This work reviews the current knowledge on epileptogenesis and pathophysiology of epilepsy. Recently, gene defects underlying four monogenic epilepsies (generalized epilepsy with febrile seizures, autosomal dominant nocturnal frontal lobe …
This work reviews the current knowledge on epileptogenesis and pathophysiology of epilepsy. Recently, gene defects underlying four mo …
Revisiting autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) mutations in the nicotinic acetylcholine receptor reveal an increase in efficacy regardless of stochiometry.
Indurthi DC, Qudah T, Liao VW, Ahring PK, Lewis TM, Balle T, Chebib M, Absalom NL. Indurthi DC, et al. Pharmacol Res. 2019 Jan;139:215-227. doi: 10.1016/j.phrs.2018.11.031. Epub 2018 Nov 22. Pharmacol Res. 2019. PMID: 30472464
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a genetic form of epilepsy that is caused by mutations in several genes, including genes encoding for the alpha4 and beta2 subunits of the nicotinic acetylcholine (nACh) receptor. .. …
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a genetic form of epilepsy that is caused …
Nocturnal paroxysmal arousals with motor behaviors during sleep: frontal lobe epilepsy or parasomnia?
Zucconi M, Oldani A, Ferini-Strambi L, Bizzozero D, Smirne S. Zucconi M, et al. J Clin Neurophysiol. 1997 Nov;14(6):513-22. doi: 10.1097/00004691-199711000-00008. J Clin Neurophysiol. 1997. PMID: 9458058
Nocturnal paroxysmal arousals with motor behaviors have been described in a few individuals, and their possible epileptic origin as nocturnal frontal lobe seizures has been suggested. ...Paroxysmal arousals with motor behaviors probably represent a par …
Nocturnal paroxysmal arousals with motor behaviors have been described in a few individuals, and their possible epileptic origin as …
Focal Impaired Awareness Seizure.
Kumar A, Sharma S. Kumar A, et al. 2023 Oct 10. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. 2023 Oct 10. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–. PMID: 30085572 Free Books & Documents.
Seizures are of shorter duration, and progression to bilateral convulsions is more common than those arising from the mesial temporal lobe. Seizures of Frontal Lobe Origin Up to 30% of the patients with focal epilepsy have seizures arising from the …
Seizures are of shorter duration, and progression to bilateral convulsions is more common than those arising from the mesial temporal lob …
Distinctive effects of nicotinic receptor intracellular-loop mutations associated with nocturnal frontal lobe epilepsy.
Weltzin MM, Lindstrom JM, Lukas RJ, Whiteaker P. Weltzin MM, et al. Neuropharmacology. 2016 Mar;102:158-73. doi: 10.1016/j.neuropharm.2015.11.004. Epub 2015 Nov 10. Neuropharmacology. 2016. PMID: 26561946 Free PMC article.
Previously characterized nicotinic acetylcholine receptor (nAChR) autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)-associated mutations are found in alpha2, alpha4 and beta2 subunit transmembrane (TM) domains. ...Biased-ratio preparations el …
Previously characterized nicotinic acetylcholine receptor (nAChR) autosomal dominant nocturnal frontal lobe epilepsy …
Mutation Linked to Autosomal Dominant Nocturnal Frontal Lobe Epilepsy Reduces Low-Sensitivity alpha4beta2, and Increases alpha5alpha4beta2, Nicotinic Receptor Surface Expression.
Nichols WA, Henderson BJ, Marotta CB, Yu CY, Richards C, Dougherty DA, Lester HA, Cohen BN. Nichols WA, et al. PLoS One. 2016 Jun 23;11(6):e0158032. doi: 10.1371/journal.pone.0158032. eCollection 2016. PLoS One. 2016. PMID: 27336596 Free PMC article.
A number of mutations in alpha4beta2-containing (alpha4beta2*) nicotinic acetylcholine (ACh) receptors (nAChRs) are linked to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), including one in the beta2 subunit called beta2V287L. Two alpha4b …
A number of mutations in alpha4beta2-containing (alpha4beta2*) nicotinic acetylcholine (ACh) receptors (nAChRs) are linked to autosomal domi …
Disorders of membrane channels or channelopathies.
Celesia GG. Celesia GG. Clin Neurophysiol. 2001 Jan;112(1):2-18. doi: 10.1016/s1388-2457(00)00496-x. Clin Neurophysiol. 2001. PMID: 11137655 Review.
Through these pores ions flow across the membrane and depolarize or hyperpolarize the cell. Channels can be classified into 3 types: non-gated, directly gated and second messenger gated channels. ...The following inherited channelopathies are described. (1) Sodium channelo …
Through these pores ions flow across the membrane and depolarize or hyperpolarize the cell. Channels can be classified into 3 types: …
Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors.
Kuryatov A, Gerzanich V, Nelson M, Olale F, Lindstrom J. Kuryatov A, et al. J Neurosci. 1997 Dec 1;17(23):9035-47. doi: 10.1523/JNEUROSCI.17-23-09035.1997. J Neurosci. 1997. PMID: 9364050 Free PMC article.
A mutation (S247F) in the channel-lining domain (M2) of the alpha4 nicotinic acetylcholine receptor (AChR) subunit has previously been linked genetically to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). To better understand the functiona …
A mutation (S247F) in the channel-lining domain (M2) of the alpha4 nicotinic acetylcholine receptor (AChR) subunit has previously been linke …
Two mutations linked to nocturnal frontal lobe epilepsy cause use-dependent potentiation of the nicotinic ACh response.
Figl A, Viseshakul N, Shafaee N, Forsayeth J, Cohen BN. Figl A, et al. J Physiol. 1998 Dec 15;513 ( Pt 3)(Pt 3):655-70. doi: 10.1111/j.1469-7793.1998.655ba.x. J Physiol. 1998. PMID: 9824708 Free PMC article.
We constructed rat homologues (S252F and +L264) of two human alpha4 nicotinic mutations - alpha4(S248F) and alpha4(777ins3) - that have been linked to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and co-expressed them with wild-type …
We constructed rat homologues (S252F and +L264) of two human alpha4 nicotinic mutations - alpha4(S248F) and alpha4(777ins3) - that have been …
Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy.
Son CD, Moss FJ, Cohen BN, Lester HA. Son CD, et al. Mol Pharmacol. 2009 May;75(5):1137-48. doi: 10.1124/mol.108.054494. Epub 2009 Feb 23. Mol Pharmacol. 2009. PMID: 19237585 Free PMC article.
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is linked with high penetrance to several distinct nicotinic receptor (nAChR) mutations. We studied (alpha4)(3)(beta2)(2) versus (alpha4)(2)(beta2)(3) subunit stoichiometry for f …
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is linked with high penetrance to several distinct n …
20 results