SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population

被引：19

作者：

Tenchini, ML

Duga, S

Bonati, MT

Asselta, R

Oldani, A

Zucconi, M

Malcovati, M

Dalprà, L

Ferini-Strambi, L

机构：

[1] Univ Milan, IRCCS, H San Raffaele, Sleep Disorders Ctr, I-20127 Milan, Italy

[2] Univ Milan, Dept Biol & Genet Med Sci, I-20122 Milan, Italy

来源：

SLEEP | 1999年 / 22卷 / 05期

关键词：

nocturnal frontal lobe epilepsy; parasomnias; CHRNA4; gene; mutation;

D O I：

10.1093/sleep/22.5.637

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

41 patients (19 sporadic and 22 familial) affected by autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) were analyzed for the presence of two mutations (Ser252Phe, 776ins3) in the CHRNA4 gene, reported to be associated with this disease. Electroclinical findings of sporadic forms were indistinguishable from familial ones. In none of the patients, these mutations were found by dot blot analysis with allele specific oligonucleotides. These data, obtained on the largest group so far studied, suggest the rarity of the reported mutations.

引用

页码：637 / 639

页数：3

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