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Abstract:
:Children with malformations of cortical development (MCD) are at risk for epilepsy, developmental delays, behavioral disorders, and intellectual disabilities. While for a subset of these children epilepsy surgery may result in seizure freedom, there are limited options for treating or curing the other conditions, and epilepsy surgery is not an option in all cases. Understanding the genetic and neurobiological mechanisms underlying MCD is a necessary step in elucidating novel therapeutic targets. The tish (telencephalic internal structural heterotopia) rat is a unique model of MCD with spontaneous seizures, but the underlying genetic mutation(s) have remained unknown. DNA and RNA-sequencing revealed that a deletion encompassing a previously unannotated first exon markedly diminished Eml1 transcript and protein abundance in the tish brain. Developmental electrographic characterization of the tish rat revealed the early-onset spontaneous spike-wave discharge (SWD) bursts beginning at postnatal day (P) 17. A dihybrid cross demonstrated that the mutant Eml1 allele segregates with the observed dysplastic cortex and the early-onset SWD bursts in monogenic autosomal recessive frequencies. Our data link the development of the bilateral, heterotopic dysplastic cortex of the tish rat to a deletion in Eml1.
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最新影响因子:7.046 | 期刊ISSN:0969-9961 | CiteScore:5.32 |
出版周期:Bimonthly | 是否OA:YES | 出版年份:1994 |
期刊官方网址:http://www.journals.elsevier.com/neurobiology-of-disease/
期刊投稿地址:http://ees.elsevier.com/ynbdi/default.asp?pg=preRegistration.asp
自引率:2.40% | 研究方向:医学-神经科学 |
出版地区:ENGLAND |
SCI期刊coverage:Science Citation Index Expanded(科学引文索引扩展)
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Register now for free access to full text articles from Neurobiology of Disease ! Neurobiology of Disease, Experimental Neurology Part B, is a major international journal at the interface between basic and clinical neuroscience. The journal provides a forum for the publication of top quality research papers on: molecular and cellular definitions of disease mechanisms, the neural systems and underpinning behavioral disorders, the genetics of inherited neurological and psychiatric diseases, nervous system aging, and findings relevant to the development of new therapies.
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大类(学科) | 小类(学科) | 学科排名 |
医学 |
NEUROSCIENCES (神经科学) 2区 |
40/261 |
年度总发文量 | 年度论文发表量 | 年度综述发表量 |
187 | 157 | 30 |
引文计数(2018)
文献(2015-2017)
4291次引用
806篇文献
序号 | 类别 | 排名 | 百分位 |
1 |
大类(学科):Neuroscience
小类(学科):Neurology
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#8/142
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研究方向:生命科学 遗传学 生物信息学 基因组学
审稿时间: 2个月内
影响因子:5.576
ISSN:0885-3924
研究方向:医学-临床神经学
影响因子:6.005
ISSN:0192-415X
研究方向:医学-全科医学与补充医学
影响因子:202.731
ISSN:0140-6736
研究方向:医学-医学:内科
影响因子:2.898
ISSN:1807-5932
研究方向:医学-医学:内科
影响因子:1.817
ISSN:0025-7974
研究方向:医学-医学:内科
影响因子:3.006
ISSN:2044-6055
研究方向:MEDICINE, GENERAL & INTERNAL-
影响因子:0.834
ISSN:0020-9554
研究方向:医学-医学:内科
影响因子:0.522
ISSN:1108-4189
研究方向:MEDICINE, GENERAL & INTERNAL-
影响因子:11.15
ISSN:1741-7015
研究方向:医学-医学:内科
NEUROBIOLOGY OF DISEASE 投稿经验
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