[1] |
TRAYNELIS S F,WOLLMUTH L P,MCBAIN C J,et al.Glutamate receptor ion channels:structure,regulation,and function[J]. Pharmacol Rev,2010,62(3):405-496.
|
[2] |
XU X X,LUO J H.Mutations of N-methyl-D-aspartate receptor subunits in epilepsy[J]. Neurosci Bull,2018,34(3):549-565.
|
[3] |
PAOLETTI P,BELLONE C,ZHOU Q.NMDA receptor subunit diversity:impact on receptor properties,synaptic plasticity and disease[J]. Nat Rev Neurosci,2013,14(6):383-400.
|
[4] |
LEMKE J R,GEIDER K,HELBIG K L,et al.Delineating the GRIN1 phenotypic spectrum:a distinct genetic NMDA receptor encephalopathy[J]. Neurology,2016,86(23):2171-2178.
|
[5] |
ROSSI M,CHATRON N,LABALME A,et al.Novel homozygous missense variant of GRIN1 in two sibs with intellectual disability and autistic features without epilepsy[J]. Eur J Hum Genet,2017,25(3):376-380.
|
[6] |
OHBA C,SHIINA M,TOHYAMA J,et al.GRIN 1 mutations cause encephalopathy with infantile-onset epilepsy,and hyperkinetic and stereotyped movement disorders[J]. Epilepsia,2015,56(6):841-848.
|
[7] |
HAMDAN F F,GAUTHIER J,ARAKI Y,et al.Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability[J]. Am J Hum Genet,2011,88(3):306-316.
|
[8] |
CHEN W,SHIEH C,SWANGER S A,et al.GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function[J]. J Hum Genet,2017,62(6):589-597.
|
[9] |
PIRONTI E,GRANATA F,CUCINOTTA F,et al.Electroclinical history of a five-year-old girl with GRIN1-related early-onset epileptic encephalopathy:a video-case study[J]. Epileptic Disord,2018,20(5):423-427.
|
[10] |
ZEHAVI Y,MANDEL H,ZEHAVI A,et al.De novo GRIN1 mutations:an emerging cause of severe early infantile encephalopathy[J]. Eur J Med Genet,2017,60(6):317-320.
|
[11] |
PAPA F T,MANCARDI M M,FRULLANTI E,et al.Personalized therapy in a GRIN1 mutated girl with intellectual disability and epilepsy[J]. Clin Dysmorphol,2018,27(1):18-20.
|
[12] |
PADEROVA J,DRABOVA J,HOLUBOVA A,et al.Under the mask of Kabuki syndrome:elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype[J]. Eur J Med Genet,2018,61(6):315-321.
|
[13] |
彭镜,尹飞,姜玉斌,等. 儿童智力障碍或全面发育迟缓病因诊断策略专家共识[J]. 中华儿科杂志,2018,56(11):806-810.
|
[14] |
沈永年,王慕逖. 矮身材儿童诊治指南[J]. 中华儿科杂志,2008,46(6):428-430.
|
[15] |
SULTAN M,AFZAL M,QURESHI S M,et al.Etiology of short stature in children[J]. J Coll Physicians Surg Pak,2008,18(8):493-497.
|
[16] |
MCBAIN C J,DICHIARA T J,KAUER J A.Activation of metabotropic glutamate receptors differentially affects two classes of hippocampal interneurons and potentiates excitatory synaptic transmission[J]. J Neurosci,1994,14(7):4433-4445.
|
[17] |
GANDAL M J,ANDERSON R L,BILLINGSLEA E N,et al.Mice with reduced NMDA receptor expression:more consistent with autism than schizophrenia?[J]. Genes Brain Behav,2012,11(6):740-750.
|
[18] |
UMEMORI J,TAKAO K,KOSHIMIZU H,et al.ENU-mutagenesis mice with a non-synonymous mutation in Grin1 exhibit abnormal anxiety-like behaviors,impaired fear memory,and decreased acoustic startle response[J]. BMC Res Notes,2013,6(1):203.
|
[19] |
BERTRAND A T,CHIKHAOUI K,YAOU R B, et al.Clinical and genetic heterogeneity in laminopathies[J]. Biochem Soc Trans,2011,39(6):1687-1692.
|