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Springer电子图书(1)
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Elsevier电子期刊(66)
ACS电子期刊(1)
在“
Elsevier电子期刊
”中,
命中:
66
条,耗时:小于0.01 秒
在所有数据库中总计命中:
86
条
1.
Altered GABA
A
receptor expression in brainstem nuclei and SUDEP in Gabrg2
+/Q390X
mice associated
with
epileptic encephalopathy
作者:
Geqing Xia
a
;
Sarah P. Pourali
a
;
Timothy A. Warner
a
;
Chun-Qing Zhang
a
;
Robert L. Macdonald
a
;
b
;
c
;
d
;
Jing-Qiong Kang
a
;
b
;
jingqiong.kang@vanderbilt.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
γ2 subunit
;
Gabrg2+/Q390X knockin (KI) mice
;
Gabrg2+/&minus
;
knockout (KO) mice
;
Epileptic encephalopathy
;
Brainstem
;
GABAA receptors
;
Protein accumulation
刊名:
Epilepsy
Research
出版年:2016
2.
Association of nonsense mutation in GABRG2
with
abnormal trafficking of GABA
A
receptors in severe
epilepsy
作者:
Atsushi Ishii
a
;
d
;
Takeshi Kanaumi
a
;
d
;
Miwa Sohda
e
;
Yoshio Misumi
b
;
Bo Zhang
c
;
Naoto Kakinuma
f
;
Yoshiko Haga
g
;
Kazuyoshi Watanabe
h
;
Sen Takeda
f
;
Motohiro Okada
i
;
Shinya Ueno
j
;
Sunao Kaneko
k
;
m
;
Sachio Takashima
l
;
Shinichi Hirose
a
;
d
;
hirose@fukuoka-u.ac.jp" class="auth_mail
关键词:
GEFS
+
;
genetic
epilepsy
with
febrile
seizures
plus
;
PTCs
;
premature termination codons
;
NMD
;
nonsense-mediated decay
刊名:
Epilepsy
Research
出版年:March, 2014
3.
Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy
with
severe
febrile
seizures
作者:
Makiko Saitoh
a
;
makisaito-tky@umin.ac.jp" class="auth_mail" title="E-mail the corresponding author
;
Atsushi Ishii
b
;
Yukiko Ihara
b
;
Ai Hoshino
a
;
Hiroshi Terashima
c
;
Masaya Kubota
c
;
Kenjiro Kikuchi
d
;
Gaku Yamanaka
e
;
Kaoru Amemiya
f
;
Shinichi Hirose
b
;
Masashi Mizuguchi
a
关键词:
Voltage-gated sodium channels
;
Acute encephalopathy
;
Status epilepticus
刊名:
Epilepsy
Research
出版年:2015
4.
A Novel GABRG2 mutation, p.R136*, in a family
with
GEFS
+ and extended phenotypes
作者:
Ann J. Johnston
a
;
b
;
c
;
1
;
Jing-Qiong Kang
d
;
1
;
Wangzhen Shen
d
;
William O. Pickrell
a
;
b
;
c
;
Thomas D. Cushion
b
;
Jeffrey S. Davies
b
;
Kristin Baer
b
;
Jonathan G.L. Mullins
e
;
Carrie L. Hammond
a
;
b
;
Seo-Kyung Chung
a
;
b
;
Rhys H. Thomas
a
;
b
;
c
;
Cathy White
a
;
f
;
Phil E.M. Smith
c
;
Robert L. Macdonald
d
;
2
;
Mark I. Rees
a
;
b
;
2
;
m.i.rees@swansea.ac.uk" class="auth_mail
关键词:
CAE
;
childhood absence
epilepsy
;
EEG
;
electroencephalogram
;
ER
;
endoplasmic reticulum
;
FS
;
febrile
seizures
;
GEFS
+ ;
generalised
epilepsy
with
febrile
seizures
plus
;
GGE
;
genetic generalised
epilepsy
;
JME
;
juvenile myoclonic
epilepsy
;
PTC
;
premature translation termination codon
;
GABRG2
;
纬2 subunit gene of the 纬-aminobutyric acid type A receptor
刊名:Neurobiology of Disease
出版年:April, 2014
5.
De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients
with
generalized
epilepsy
with
febrile
seizures
plus
(
GEFS
+)
作者:
Emmilia Husni Tan
a
;
Salmi Abdul Razak
b
;
Jafri Malin Abdullah
a
;
Abdul Aziz Mohamed Yusoff
a
;
azizmdy@yahoo.com
关键词:
Generalized
epilepsy
with
febrile
seizures
plus
(
GEFS
+)
;
Ataxia
;
Autism
;
Attention deficit hyperactivity disorder (ADHD)
;
SCN1A
刊名:
Epilepsy
Research
出版年:2012
6.
¡°Simple
febrile
seizures
plus
(SFS +)¡±: More than one
febrile
seizure
with
in 24 hours is usually okay
作者:
Marie F. Grill
a
;
Yu-Tze Ng
b
;
y-ng@ouhsc.edu
关键词:
CT
;
computerized tomography
;
MRI
;
magnetic resonance imaging
;
EEG
;
electroencephalogram
;
LP
;
lumbar puncture
;
SFS
+ ;
simple
febrile
seizures
plus
;
GEFS
+ ;
generalized
epilepsy
with
febrile
seizures
plus
;
ILAE
;
International League Against Epilep
刊名:
Epilepsy
& Behavior
出版年:2013
7.
Generalized
epilepsy
with
febrile
seizures
plus
(
GEFS
+) spectrum: Clinical manifestations and SCN1A mutations in Indonesian patients
作者:
Elisabeth Siti Herini
;
Gunadi
;
Indra Sari Kusuma Harahap
;
Surini Yusoff
;
Satoru Morikawa
;
Suryono Yudha Patria
;
Noriyuki Nishimura
;
Sunartini
;
Sutaryo
;
Satoshi Takada
;
Masafumi Matsuo
;
Hisahide Nishio
关键词:
Generalized
epilepsy
with
febrile
seizures
plus
(
GEFS
+)
;
Severe myoclonic
epilepsy
in infancy (SMEI)
;
Febrile
seizures
plus
(FS+)
;
SCN1A
刊名:
Epilepsy
Research
出版年:2010
8.
Impaired surface ¦Á¦Â¦Ã GABA
A
receptor expression in familial
epilepsy
due to a GABRG2 frameshift mutation
作者:
Mengnan Tian
a
;
b
;
1
;
mengnan.tian@vanderbilt.edu
;
Davide Mei
c
;
1
;
d.mei@meyer.it
;
Elena Freri
d
;
elena.freri@istituto-besta.it
;
Ciria C. Hernandez
a
;
ciria.hernandez@vanderbilt.edu
;
Tiziana Granata
d
;
tiziana.granata@istituto-besta.it
;
Wangzhen Shen
a
;
wangzhen.shen@vanderbilt.edu
;
Robert L. Macdonald
a
;
b
;
e
;
2
;
robert.macdonald@vanderbilt.edu
;
Renzo Guerrini
c
;
f
;
2
;
r.guerrini@meyer.it
关键词:
GABAA receptor
;
GABRG2
;
GABRG2(S443delC)
;
GEFS
+ ;
Epilepsy
刊名:Neurobiology of Disease
出版年:2013
9.
Vaccination and Occurrence of
Seizures
in SCN1A Mutation-Positive Patients: A Multicenter Italian Study
作者:
Nelia Zamponi
;
Claudia Passamonti
;
Cristina Petrelli
;
Pierangelo Veggiotti
;
Chiara Baldassari
;
Alberto Verrotti
;
Giovanni Capovilla
;
Maurizio Viri
;
Giangennaro Coppola
;
Aglaia Vignoli
关键词:
vaccination
;
Dravet syndrome
;
GEFS
+
;
SCN1A gene
;
seizure
;
cognition
刊名:Pediatric Neurology
出版年:March, 2014
10.
When is a child
with
status epilepticus likely to have Dravet syndrome?
作者:
Franç
;
ois Le Gal
a
;
b
;
Sé
;
bastien Lebon
c
;
Gian Paolo Ramelli
d
;
Alexandre N. Datta
e
;
Danielle Mercati
f
;
Oliver Maier
g
;
Christophe Combescure
h
;
Maria Isabel Rodriguez
i
;
Margitta Seeck
j
;
Eliane Roulet
c
;
Christian M. Korff
k
;
christian.korff@hcuge.ch" class="auth_mail
关键词:
Status epilepticus
;
SCN1A
;
Children
刊名:
Epilepsy
Research
出版年:May, 2014
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