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Wiley电子期刊(6)
SpringerLink电子期刊(22)
NATURE电子期刊(1)
Elsevier电子期刊(95)
在“
Elsevier电子期刊
”中,
命中:
95
条,耗时:0.0480075 秒
在所有数据库中总计命中:
124
条
1.
FARS2 mutation and epilepsy: Possible link with
early
-
onset
epileptic
encephalopathy
作者:
Jae So Cho
a
;
gipumj@gmail.com
;
Seung Hyo Kim
b
;
aquack@hanmail.net
;
Ha Young Kim
c
;
ha01994@naver.com
;
Taesu Chung
d
;
hibissyria@gmail.com
;
Dongsup Kim
d
;
kds@kaist.ac.kr
;
Sesong Jang
e
;
ja_sesong_ng@hotmail.com
;
Seung Bok Lee
a
;
for3guy@naver.com
;
Seung Keun Yoo
e
;
ysk819@daum.net
;
Jongyeon Shin
e
;
jongyeon.anna@gmail.com
;
Jong-il Kim
e
;
jongil@snu.ac.kr
;
Hunmin Kim
f
;
hunminkim@hanmail.net
;
Hee Hwang
f
;
seizure@snu.ac.kr
;
Jong-Hee Chae
a
;
chaeped1@snu.ac.kr
;
Jieun Choi
g
;
jechoi66@snu.ac.kr
;
Ki Joong Kim
a
;
pednr@plaza.snu.ac.kr
;
Byung Chan Lim
a
;
prabbit7@snu.ac.kr
关键词:
FARS2
;
Early
-
onset
epileptic
encephalopathy
;
Mitochondrial tRNA synthetase
刊名:Epilepsy Research
出版年:2017
2.
Quinidine therapy for West syndrome with KCNTI mutation: A case report
作者:
Masataka Fukuoka
a
;
Ichiro Kuki
a
;
i-kuki@med.osakacity-hp.or.jp
;
Hisashi Kawawaki
a
;
Shin Okazaki
a
;
Kiyohiro Kim
a
;
Yuka Hattori
a
;
Hitomi Tsuji
a
;
Megumi Nukui
a
;
Takeshi Inoue
a
;
Yoko Yoshida
b
;
Takehiro Uda
c
;
Sadami Kimura
d
;
Yukiko Mogami
d
;
Yasuhiro Suzuki
d
;
Nobuhiko Okamoto
e
;
Hirotomo Saitsu
f
;
g
;
Naomichi Matsumoto
f
关键词:
EOEE
;
early
onset
epileptic
encephalopathy
;
MPSI
;
migrating partial seizures of infancy
;
LTG
;
lamotrigine
;
VPA
;
valproate
刊名:Brain and Development
出版年:2017
3.
Infantile
Epileptic
Encephalopathy
Associated With SCN2A Mutation Responsive to Oral Mexiletine
作者:
Laura A. Foster
;
MD
a
;
Maria R. Johnson
;
MS
a
;
John T. MacDonald
;
MD
a
;
Peter I. Karachunski
;
MD
a
;
Thomas R. Henry
;
MD
a
;
David R. Nascene
;
MD
b
;
Brian P. Moran
;
MD
c
;
Gerald V. Raymond
;
MD
a
;
gvraymon@umn.edu
关键词:
channelopathies
;
antiarrhythmic agents
;
lidocaine
;
epilepsy
刊名:Pediatric Neurology
出版年:2017
4.
Early
onset
epileptic
encephalopathy
or genetically determined
encephalopathy
with
early
onset
epilepsy? Lessons learned from TSC
作者:
Paolo Curatolo
a
;
curatolo@uniroma2.it" class="auth_mail" title="E-mail the corresponding author
;
Eleonora Aronica
b
;
c
;
d
;
e.aronica@amc.uva.nl" class="auth_mail" title="E-mail the corresponding author
;
Anna Jansen
e
;
anna.jansen@uzbrussel.be" class="auth_mail" title="E-mail the corresponding author
;
Floor Jansen
f
;
F.E.Jansen@umcutrecht.nl" class="auth_mail" title="E-mail the corresponding author
;
Katarzyna Kotulska
g
;
kotulska.jozwiak@gmail.com" class="auth_mail" title="E-mail the corresponding author
;
Lieven Lagae
h
;
lieven.lagae@uzleuven.be" class="auth_mail" title="E-mail the corresponding author
;
Romina Moavero
a
;
i
;
rominamoavero@hotmail.com" class="auth_mail" title="E-mail the corresponding author
;
Sergiusz Jozwiak
j
;
sergiusz.jozwiak@gmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
Tuberous sclerosis
;
Epileptic
encephalopathy
;
Genetics
;
mTOR
;
Vigabatrin
刊名:European Journal of Paediatric Neurology
出版年:2016
5.
Dramatic effect of levetiracetam in
early
-
onset
epileptic
encephalopathy
due to STXBP1 mutation
作者:
Robertino Dilena
a
;
robertino.dilena@policlinico.mi.it" class="auth_mail" title="E-mail the corresponding author
;
Pasquale Striano
b
;
Monica Traverso
c
;
Maurizio Viri
d
;
Gloria Cristofori
e
;
Laura Tadini
a
;
Sergio Barbieri
a
;
Antonino Romeo
d
;
Federico Zara
c
关键词:
STXBP1 mutation
;
Early
onset
epileptic
encephalopathy
;
Levetiracetam
;
Anti
epileptic
drugs
;
Pharmacogenetics
刊名:Brain and Development
出版年:2016
6.
Severe
early
-
onset
epileptic
encephalopathy
due to mutations in the KCNA2 gene: Expansion of the genotypic and phenotypic spectrum
作者:
Khaled Hundallah
a
;
Asma'a Alenizi
a
;
Amal AlHashem
b
;
Brahim Tabarki
a
;
btabarki@hotmail.com" class="auth_mail" title="E-mail the corresponding author
关键词:
KCNA2
;
Epileptic
encephalopathy
刊名:European Journal of Paediatric Neurology
出版年:2016
7.
High prevalence of genetic alterations in
early
-
onset
epileptic
encephalopathies associated with infantile movement disorders
作者:
Yu Kobayashi
a
;
Jun Tohyama
a
;
b
;
jtohyama@masa.go.jp" class="auth_mail" title="E-mail the corresponding author
;
Mitsuhiro Kato
c
;
d
;
Noriyuki Akasaka
a
;
Shinichi Magara
a
;
Hideshi Kawashima
a
;
Tsukasa Ohashi
a
;
Hideaki Shiraishi
e
;
Mitsuko Nakashima
f
;
Hirotomo Saitsu
f
;
Naomichi Matsumoto
f
关键词:
Epileptic
encephalopathy
;
West syndrome
;
Involuntary movement
;
Hyperkinetic movement
;
Hand stereotype
;
Whole-exome sequencing
刊名:Brain and Development
出版年:2016
8.
RARS2 mutations cause
early
onset
epileptic
encephalopathy
without ponto-cerebellar hypoplasia
作者:
Daniella Nishri
a
;
b
;
1
;
Hadassa Goldberg-Stern
c
;
h
;
1
;
Iris Noyman
d
;
Lubov Blumkin
a
;
h
;
Sara Kivity
a
;
c
;
Hirotomo Saitsu
e
;
Mitsuko Nakashima
e
;
Naomichi Matsumoto
e
;
Esther Leshinsky-Silver
a
;
g
;
h
;
Tally Lerman-Sagie
a
;
h
;
Dorit Lev
a
;
f
;
h
;
dorlev@post.tau.ac.il" class="auth_mail" title="E-mail the corresponding author
关键词:
Epileptic
encephalopathy
;
RARS2
;
Mitochondrial
;
Pontocerebellar hypoplasia
刊名:European Journal of Paediatric Neurology
出版年:2016
9.
Ketogenic diet - A novel treatment for
early
epileptic
encephalopathy
due to PIGA deficiency
作者:
Charuta Joshi
a
;
charuta-joshi@uiowa.edu" class="auth_mail" title="E-mail the corresponding author
;
Diana L. Kolbe
b
;
M. Adela Mansilla
b
;
Sara Mason
b
;
Richard J.H. Smith
b
;
Colleen A. Campbell
b
关键词:
Ketogenic diet
;
Epileptic
encephalopathy
;
Whole exome sequencing
;
PIGA
刊名:Brain and Development
出版年:2016
10.
SCN8A
Epileptic
Encephalopathy
: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment
作者:
Melanie A. McNally
;
MD
a
;
Julia Johnson
;
MD
b
;
Thierry A. Huisman
;
MD
c
;
Andrea Poretti
;
MD
c
;
Kristin W. Baranano
;
MD
;
PhD
a
;
Ahmet A. Baschat
;
MD
d
;
Carl E. Stafstrom
;
MD
;
PhD
a
;
cstafst1@jhmi.edu" class="auth_mail" title="E-mail the corresponding author
关键词:
fetal seizures
;
SCN8A
;
early
infantile
epileptic
encephalopathy
;
arthrogryposis
;
sodium channels
;
ultrasonography
刊名:Pediatric Neurology
出版年:2016
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