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Elsevier电子期刊(95)

在“Elsevier电子期刊”中，命中：95条，耗时：0.046951 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

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 ; Antiepileptic 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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