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Springer电子图书(1)
CNKI学位论文(36)
知网期刊论文(177)
在“
Elsevier电子期刊
”中,
命中:
185
条,耗时:0.0159888 秒
在所有数据库中总计命中:
214
条
1.
Two mild cases of
Dravet
syndrome
with truncating mutation of SCN1A
作者:
Toru Takaori
a
;
torutakaori@gmail.com
;
Akira Kumakura
a
;
Atsushi Ishii
b
;
Shinichi Hirose
b
;
Daisuke Hata
a
关键词:
Dravet
syndrome
;
SCN1A truncating mutation
;
Mild phenotype
刊名:Brain and Development
出版年:2017
2.
A case of
Dravet
syndrome
with cortical myoclonus indicated by jerk-locked back-averaging of electroencephalogram data
作者:
Yoshinori Kobayashi
a
;
b
;
Yoshiyuki Hanaoka
b
;
Tomoyuki Akiayma
b
;
Iori Ohmori
c
;
Mamoru Ouchida
d
;
Toshiyuki Yamamoto
e
;
Makio Oka
b
;
Harumi Yoshinaga
b
;
Katsuhiro Kobayashi
b
;
k_koba@md.okayama-u.ac.jp
关键词:
Dravet
syndrome
;
Cortical myoclonus
;
Jerk-locked averaging
;
EEG
刊名:Brain and Development
出版年:2017
3.
From genotype to phenotype in
Dravet
disease
作者:
Svetlana Gataullina
a
;
b
;
c
;
d
;
e
;
svetlana.gataullina@yahoo.fr
;
Olivier Dulac
a
;
b
;
c
;
d
关键词:
Dravet
syndrome
;
Status epilepticus
;
SCN1A
;
NaV1.1
;
GABAergic neurons
刊名:Seizure
出版年:2017
4.
Photosensitivity in
Dravet
syndrome
is under-recognized and related to prognosis
作者:
Nienke Verbeek
a
;
Dorothé
;
e Kasteleijn-Nolst Trenité
;
a
;
d.kasteleijn@umcutrecht.nl
;
dkasteleijn@planet.nl
;
Merel Wassenaar
b
;
c
;
Jolien van Campen
d
;
e
;
Anja Sonsma
a
;
W. Boudewijn Gunning
c
;
Al de Weerd
c
;
Nine Knoers
a
;
Willy Spetgens
b
;
c
;
Thea Gutter
c
;
Frans Leijten
b
;
Eva Brilstra
a
关键词:
Photoparoxysmal EEG response
;
PPR
;
SCN1A
;
Pattern stimulation
;
Self-induction
;
Prevalence
刊名:Clinical Neurophysiology
出版年:2017
5.
Prevalence and Characteristics of Vaccination Triggered Seizures in
Dravet
Syndrome
in Hong Kong: A Retrospective Study
作者:
Polly Tsz Yan Wong
;
BSc (Toronto)
;
MPhil (HKU)
;
PhD (HKU)
a
;
Virginia Chun-Nei Wong
;
MBBS (HK)
;
MRCP (UK)
;
DCH (Glasgow)
;
DCH (London)
;
FRCP (Edinburgh)
;
FHKAM (Paediatrics)
;
FHKCPaed
;
FRCPCH
;
FRCP (London)
b
;
vcnwong@hku.hk" class="auth_mail" title="E-mail the corresponding author
关键词:
Dravet
syndrome
;
vaccination
;
children
;
seizure
刊名:Pediatric Neurology
出版年:2016
6.
Supraventricular Tachycardia During Status Epilepticus in
Dravet
Syndrome
: A Link Between Brain and Heart?
作者:
Marco Daverio
;
MD
a
;
Ornella Ciccone
;
MD
a
;
Clementina Boniver
;
MD
a
;
Luca De Palma
;
MD
a
;
Domenico Corrado
;
MD
;
PhD
b
;
Marilena Vecchi
;
MD
a
;
vecchi@pediatria.unipd.it" class="auth_mail" title="E-mail the corresponding author
关键词:
arrhythmia
;
channelopathy
;
Dravet
syndrome
;
SCN1A
;
paroxysmal supraventricular tachycardia
刊名:Pediatric Neurology
出版年:2016
7.
Outlining a core neuropsychological phenotype for
Dravet
syndrome
作者:
Domenica Battaglia
;
Daniela Ricci
;
Daniela Chieffo
;
Francesco Guzzetta
;
fguzzetta@rm.unicatt.it" class="auth_mail" title="E-mail the corresponding author
关键词:
Dravet
syndrome
;
Epileptic encephalopathy
;
Channelopathy
;
Neuropsychological phenotypes
;
Visuoconstructive ability impairment
刊名:Epilepsy Research
出版年:2016
8.
Mortality in
Dravet
syndrome
作者:
Monica S. Cooper
a
;
b
;
c
;
Anne Mcintosh
d
;
e
;
Douglas E. Crompton
d
;
f
;
Jacinta M. McMahon
d
;
Amy Schneider
d
;
Kevin Farrell
g
;
Vijeya Ganesan
h
;
Deepak Gill
i
;
Sara Kivity
j
;
Tally Lerman-Sagie
k
;
Ailsa McLellan
l
;
James Pelekanos
m
;
Venkateswaran Ramesh
n
;
Lynette Sadleir
o
;
p
;
Elaine Wirrell
q
;
Ingrid E. Scheffer
b
;
d
;
r
;
scheffer@unimelb.edu.au
关键词:
Dravet
syndrome
;
Epilepsy
;
Mortality
;
Sudden unexpected death in epilepsy
刊名:Epilepsy Research
出版年:2016
9.
Le
syndrome
de
Dravet
: une neuropathie axonale motrice pourrait contribuer au phénotype moteur
作者:
Cyril Gitiaux
a
;
b
;
c
;
cyril.gitiaux@aphp.fr" class="auth_mail" title="E-mail the corresponding author
;
Nicole Chemaly
a
;
b
;
d
;
e
;
f
;
Susana Quijano
b
;
g
;
Christine Barnerias
a
;
Isabelle Desguerre
a
;
c
;
Marie Hully
a
;
Catherine Chiron
a
;
d
;
e
;
f
;
Olivier Dulac
d
;
e
;
f
;
Rima Nabbout
a
;
c
;
d
;
e
;
f
关键词:
Neuropathie pé
;
riphé
;
rique
;
SMA-LED
;
Syndrome
de
Dravet
刊名:Neurophysiologie Clinique / Clinical Neurophysiology
出版年:2016
10.
Efficacy of antiepileptic drugs for the treatment of
Dravet
syndrome
with different genotypes
作者:
Xiu-Yu Shi
a
;
b
;
c
;
Yuko Tomonoh
a
;
b
;
Wen-Ze Wang
a
;
b
;
d
;
Atsushi Ishii
a
;
b
;
Norimichi Higurashi
a
;
b
;
e
;
Hirokazu Kurahashi
f
;
Sunao Kaneko
g
;
Shinichi Hirose
a
;
b
;
hirose@fukuoka-u.ac.jp" class="auth_mail" title="E-mail the corresponding author
;
The Epilepsy Genetic Study Group
;
Japan (Chairperson
;
SK)
关键词:
Genetic tests
;
Dravet
syndrome
;
Antiepileptic drug therapy
;
Efficacy
刊名:Brain and Development
出版年:2016
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