典型文献
PCDH19 interplay with GABA(A) receptors: a window to DEE9 pathogenetic mechanisms
文献摘要：
Developmental and epileptic encephalopathy 9 (DEE9): The gene PCDH19 (Xq22.1), which encodes the calcium-dependent cell adhesion protein protocadherin-19 (PCDH19), is nowadays considered as one of the most important genes in monogenic epilepsy (Depienne and LeGuern, 2012). Mutations in PCDH19 are responsible for DEE9 (OMIM #300088), a severe neurodevelopmental disorder characterized by early-onset clustering epilepsy, various degrees of cognitive impairment and neuropsychiatric comorbidities, like autism spectrum disorder (ASD) and behavioural problems. DEE9 patients start suffering from seizures around the age of 10 months until adolescence, when seizures tend to reduce or even disappear, while the psychiatric symptoms persist (Depienne and LeGuern, 2012; Kolc et al., 2018).
文献关键词：
中图分类号：
作者姓名：
Sara Mazzoleni
作者机构：
Institute of Neuroscience,CNR,Milan,Italy;Department of Medical Biotechnology and Translational Medicine,University of Milan,Segrate(MI),Italy;NeuroMI Milan Center for Neuroscience,University of Milano-Bicocca,Milan,Italy
文献出处：
引用格式：
[1]Sara Mazzoleni-.PCDH19 interplay with GABA(A) receptors: a window to DEE9 pathogenetic mechanisms)[J].中国神经再生研究（英文版）,2022(04):803-805
A类：
DEE9,protocadherin,Depienne,LeGuern,#300088,Kolc
B类：
PCDH19,interplay,GABA,receptors,window,pathogenetic,mechanisms,Developmental,epileptic,encephalopathy,Xq22,which,encodes,calcium,dependent,cell,adhesion,protein,nowadays,considered,as,one,most,important,genes,monogenic,epilepsy,Mutations,are,responsible,OMIM,severe,neurodevelopmental,disorder,characterized,by,early,onset,clustering,various,degrees,cognitive,impairment,neuropsychiatric,comorbidities,like,autism,spectrum,ASD,behavioural,problems,patients,start,suffering,from,seizures,around,age,months,until,adolescence,when,tend,reduce,even,disappear,while,symptoms,persist
AB值：
0.624414
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