Suppr超能文献

墨西哥家族性内侧颞叶癫痫:遗传模式和临床特征。

Familial mesial temporal lobe epilepsy in Mexico: Inheritance pattern and clinical features.

机构信息

Epilepsy Clinic, General Hospital of México "Dr. Eduardo Liceaga", Dr. Balmis 148, 06720, Doctores, Mexico City, Mexico; Programa de Doctorado en Ciencias Biomédicas, División de Estudios de Posgrado, Universidad Nacional Autónoma de México (UNAM), Universidad 3000, 04510, Mexico City, Mexico.

Medical School, Universidad Nacional Autónoma de México, Mexico City, Mexico; Experimental Medicine Unit, Universidad Nacional Autónoma de México, in the General Hospital of México "Dr. Eduardo Liceaga", Dr. Balmis 148, 06720, Doctores, Mexico City, Mexico.

出版信息

Epilepsy Res. 2020 Nov;167:106450. doi: 10.1016/j.eplepsyres.2020.106450. Epub 2020 Sep 1.

Abstract

PURPOSE

The objectives of this study were to determine the inheritance pattern by which familial mesial temporal lobe epilepsy (FMTLE) is segregated in Mexican families, and to identify if there was an association between the clinical characteristics and the inheritance pattern.

METHOD

We included a total of 25 families with two or more members affected with MTLE during two years and elaborated a family pedigree for each family. The inheritance pattern was classified as autosomal dominant (AD) or autosomal recessive (AR), considering the affected members. We used statistical analysis association and differences between clinical characteristics and inheritance patterns.

RESULTS

The affected families with the AD pattern were 15.7 fold times more likely to start seizures at 5 years of age or earlier than families with AR pattern, OR = 15.7 (IC 95% = 1.9-128.9). We observed a predominance and greater déjà vu association (64.4% vs 31.3%; p = 0.021), OR = 3.9 (CI 95% = 1.1-13.5) in patients with AD versus AR pattern. Finally, we identified that patients with AD pattern had a likelihood of presenting emotional alterations 5.6 times higher than AR (OR = 5.6, IC = 1.1-27.5).

CONCLUSION

FMTLE is a heterogeneous syndrome, both phenotypically and genotypically; thus, our findings may be helpful for clinical use to perform an early diagnosis, to provide timely treatment, and to prevent comorbidities associated to this disease. However, in order to identify the possible genetic causes underlying these inheritance patterns, the use of molecular studies is necessary.

摘要

目的

本研究的目的是确定家族性内侧颞叶癫痫(FMTLE)在墨西哥家族中的遗传模式,并确定临床特征与遗传模式之间是否存在关联。

方法

我们共纳入了 25 个在两年内有两个或两个以上成员患有内侧颞叶癫痫的家族,并为每个家族制定了家族系谱。根据受累成员,将遗传模式分为常染色体显性(AD)或常染色体隐性(AR)。我们使用统计分析关联和临床特征与遗传模式之间的差异。

结果

AD 模式受累家族发生癫痫的年龄为 5 岁或更早的可能性是 AR 模式家族的 15.7 倍,OR=15.7(95%CI:1.9-128.9)。我们观察到 AD 模式的患者出现先兆和更强烈的即视感的关联性更高(64.4%比 31.3%;p=0.021),OR=3.9(95%CI:1.1-13.5)。最后,我们发现 AD 模式的患者出现情绪改变的可能性比 AR 模式高 5.6 倍(OR=5.6,95%CI:1.1-27.5)。

结论

FMTLE 是一种表型和基因型均具有异质性的综合征;因此,我们的研究结果可能有助于临床进行早期诊断、及时治疗,并预防与该疾病相关的合并症。然而,为了确定这些遗传模式背后可能的遗传原因,有必要进行分子研究。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验