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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 epi …
This work reviews the current knowledge on epileptogenesis and pathophysiology of epilepsy. Recently, gene defects underlying four mo …
Sleep-related epileptic behaviors and non-REM-related parasomnias: Insights from stereo-EEG.
Gibbs SA, Proserpio P, Terzaghi M, Pigorini A, Sarasso S, Lo Russo G, Tassi L, Nobili L. Gibbs SA, et al. Sleep Med Rev. 2016 Feb;25:4-20. doi: 10.1016/j.smrv.2015.05.002. Epub 2015 May 19. Sleep Med Rev. 2016. PMID: 26164370 Free article. Review.
Advances have been achieved in part through the use of intracerebral recording methods such as stereo-electroencephalography (S-EEG), which has allowed a unique "in vivo" neurophysiological insight into focal epilepsy. Using S-EEG, the local features of physiological and p …
Advances have been achieved in part through the use of intracerebral recording methods such as stereo-electroencephalography (S-EEG), which …
Nicotinic acetylcholine receptors and epilepsy.
Steinlein OK. Steinlein OK. Curr Drug Targets CNS Neurol Disord. 2002 Aug;1(4):443-8. doi: 10.2174/1568007023339193. Curr Drug Targets CNS Neurol Disord. 2002. PMID: 12769616 Review.
The CHRNA4- or CHRNB2 subunits of the nAChR are associated with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), a rare monogenic type of idiopathic epilepsy. ...
The CHRNA4- or CHRNB2 subunits of the nAChR are associated with autosomal dominant nocturnal frontal lobe epilepsy …
Genetic abnormalities underlying familial epilepsy syndromes.
Hirose S, Okada M, Yamakawa K, Sugawara T, Fukuma G, Ito M, Kaneko S, Mitsudome A. Hirose S, et al. Brain Dev. 2002 Jun;24(4):211-22. doi: 10.1016/s0387-7604(02)00056-6. Brain Dev. 2002. PMID: 12015163 Review.
Mutations in the neuronal nicotinic acetylcholine receptor 4 and 2 subunit genes have been detected in families with autosomal dominant nocturnal frontal lobe epilepsy. ...Mutation of a voltage-gated K+-channel gene can cause partial seizures as …
Mutations in the neuronal nicotinic acetylcholine receptor 4 and 2 subunit genes have been detected in families with autosomal domina …
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.
The following inherited channelopathies are described. (1) Sodium channelopathies: familial generalized epilepsy with febrile seizures plus, hyperkalemic periodic paralysis, paramyotonias, hypokalemic periodic paralysis; (2) potassium channelopathies: benign infantile e …
The following inherited channelopathies are described. (1) Sodium channelopathies: familial generalized epilepsy with febrile seizure …
Susceptibility genes in human epilepsy.
Leppert MF, Singh N. Leppert MF, et al. Semin Neurol. 1999;19(4):397-405. doi: 10.1055/s-2008-1040854. Semin Neurol. 1999. PMID: 10716662 Review.
Major advances in the identification of genetic loci and genes that predispose individuals to epilepsy have been made in the last several years. Two main themes for human, idiopathic epilepsies are emerging; genetic, or locus heterogeneity is not uncommon, and the discover …
Major advances in the identification of genetic loci and genes that predispose individuals to epilepsy have been made in the last sev …
[Ion channel diseases in neurology].
Lerche H, Mitrovic N, Lehmann-Horn F. Lerche H, et al. Fortschr Neurol Psychiatr. 1997 Nov;65(11):481-8. doi: 10.1055/s-2007-996354. Fortschr Neurol Psychiatr. 1997. PMID: 9480290 Review. German.
Dependent on the inactivation parameter altered and the degree of the gain of function induced by a given mutation, the muscle episodically becomes hyper- or hypoexcitable (i.e. stiff or weak), particularly in response to elevated serum potassium (potassium-aggravated myotonia, h …
Dependent on the inactivation parameter altered and the degree of the gain of function induced by a given mutation, the muscle episodically …