Abstract:
:Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a rare monogenic idiopathic partial epilepsy characterized by clusters of frontal lobe motor seizures during sleep. Recently, it has been shown that mutations of the chromosome-20q-located neuronal nicotinic acetylcholine receptor alpha4-subunit (CHRNA4) are associated with ADNFLE in some families, but that other families are not linked to this locus. Both CHRNA4 mutations (Ser248Phe and 776ins3) identified so far are found in the pore-forming second transmembrane region of the gene. Electrophysiological studies showed that mutations in this functional important part of the receptor subunit have a profound effect on the permeability for calcium ions. Interestingly, the Ser248Phe mutation was found again in a second ADNFLE family. Haplotype analysis excluded a founder effect and showed that Ser248Phe occurred independently twice. This provides the possibility to study the effect of the same mutation on different genetic backgrounds. Several attempts have been made to identify additional genes responsible for ADNFLE. But despite some positive linkage results including the CHRNA3-CHRNA5-CHRNB2 cluster on chromosome 15q24, no further mutations have been found so far. The mutation screening of functionally important parts of CHRNA5 in 12 ADNFLE patients did not support a causative role of this nicotinic acetylcholine receptor subunit.
journal_name
Eur J Pharmacoljournal_title
European journal of pharmacologyauthors
Steinlein OKdoi
10.1016/s0014-2999(00)00065-0keywords:
subject
Has Abstractpub_date
2000-03-30 00:00:00pages
243-7issue
1-3eissn
0014-2999issn
1879-0712pii
S0014-2999(00)00065-0journal_volume
393pub_type
杂志文章abstract::Haloperidol increased 3,4-dihydroxyphenylacetic acid and homovanillic acid concentrations in the striatum, nucleus accumbens and olfactory tubercle of both drug-naive rats and rats pretreated with haloperidol (10 injections). The increases in metabolite concentrations were greater in all brain regions of the naive rat...
journal_title:European journal of pharmacology
pub_type: 杂志文章
doi:10.1016/0014-2999(87)90189-0
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journal_title:European journal of pharmacology
pub_type: 杂志文章
doi:10.1016/0014-2999(89)90355-5
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journal_title:European journal of pharmacology
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journal_title:European journal of pharmacology
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journal_title:European journal of pharmacology
pub_type: 杂志文章
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更新日期:1999-02-19 00:00:00
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更新日期:1995-02-15 00:00:00
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journal_title:European journal of pharmacology
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journal_title:European journal of pharmacology
pub_type: 杂志文章
doi:10.1016/0014-2999(86)90338-9
更新日期:1986-09-23 00:00:00
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journal_title:European journal of pharmacology
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doi:10.1016/0014-2999(84)90653-8
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pub_type: 杂志文章
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journal_title:European journal of pharmacology
pub_type: 杂志文章
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更新日期:1995-12-07 00:00:00
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journal_title:European journal of pharmacology
pub_type: 杂志文章
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journal_title:European journal of pharmacology
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journal_title:European journal of pharmacology
pub_type: 杂志文章
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journal_title:European journal of pharmacology
pub_type: 杂志文章
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journal_title:European journal of pharmacology
pub_type: 杂志文章
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journal_title:European journal of pharmacology
pub_type: 杂志文章
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journal_title:European journal of pharmacology
pub_type: 杂志文章
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journal_title:European journal of pharmacology
pub_type: 杂志文章
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更新日期:2001-02-16 00:00:00
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journal_title:European journal of pharmacology
pub_type: 杂志文章
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