Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers

被引：33

作者：

Moller, Rikke S. ^{[1
,2
]}

Johannesen, Katrine M. ^{[1
,2
]}

机构：

[1] Danish Epilepsy Ctr Filadelfia, Dianalund, Denmark

[2] Univ Southern Denmark, Inst Reg Hlth Res, Odense, Denmark

来源：

NEUROTHERAPEUTICS | 2016年 / 13卷 / 01期

关键词：

EPILEPTIC ENCEPHALOPATHY; MUTATION;

D O I：

10.1007/s13311-015-0403-5

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：190 / 191

页数：2

共 11 条

[1] De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy [J].

Blanchard, Maxime G. ;

Willemsen, Marjolein H. ;

Walker, Jaclyn B. ;

Dib-Hajj, Sulayman D. ;

Waxman, Stephen G. ;

Jongmans, Marjolijn C. J. ;

Kleefstra, Tjitske ;

van de Warrenburg, Bart P. ;

Praamstra, Peter ;

Nicolai, Joost ;

Yntema, Helger G. ;

Bindels, Rene J. M. ;

Meisler, Miriam H. ;

Kamsteeg, Erik-Jan .

JOURNAL OF MEDICAL GENETICS, 2015, 52 (05) :330-337

[2]

Boerma R.S., 2015, Neurotherapeutics

[3] A novel de novo mutation of SCN8A (Nav1.6) with enhanced channel activation in a child with epileptic encephalopathy [J].

Estacion, Mark ;

O'Brien, Janelle E. ;

Conravey, Allison ;

Hammer, Michael F. ;

Waxman, Stephen G. ;

Dib-Hajj, Sulayman D. ;

Meisler, Miriam H. .

NEUROBIOLOGY OF DISEASE, 2014, 69 :117-123

[4] SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability [J].

Kong, Weijing ;

Zhang, Yujia ;

Gao, Yang ;

Liu, Xiaoyan ;

Gao, Kai ;

Xie, Han ;

Wang, Jingmin ;

Wu, Ye ;

Zhang, Yuehua ;

Wu, Xiru ;

Jiang, Yuwu .

EPILEPSIA, 2015, 56 (03) :431-438

[5] Carbamazepine inhibition of neuronal Na+ currents: Quantitative distinction from phenytoin and possible therapeutic implications [J].

Kuo, CC ;

Chen, RS ;

Lu, L ;

Chen, RC .

MOLECULAR PHARMACOLOGY, 1997, 51 (06) :1077-1083

[6] The phenotypic spectrum of SCN8A encephalopathy [J].

Larsen, Jan ;

Carvill, Gemma L. ;

Gardella, Elena ;

Kluger, Gerhard ;

Schmiedel, Gudrun ;

Barisic, Nina ;

Depienne, Christel ;

Brilstra, Eva ;

Mang, Yuan ;

Nielsen, Jens Erik Klint ;

Kirkpatrick, Martin ;

Goudie, David ;

Goldman, Rebecca ;

Jaehn, Johanna A. ;

Jepsen, Birgit ;

Gill, Deepak ;

Doecker, Miriam ;

Biskup, Saskia ;

McMahon, Jacinta M. ;

Koeleman, Bobby ;

Harris, Mandy ;

Braun, Kees ;

de Kovel, Carolien G. F. ;

Marini, Carla ;

Specchio, Nicola ;

Djemie, Tania ;

Weckhuysen, Sarah ;

Tommerup, Niels ;

Troncoso, Monica ;

Troncoso, Ledia ;

Bevot, Andrea ;

Wolff, Markus ;

Hjalgrim, Helle ;

Guerrini, Renzo ;

Scheffer, Ingrid E. ;

Mefford, Heather C. ;

Moller, Rikke S. .

NEUROLOGY, 2015, 84 (05) :480-489

[7] Early onset epileptic encephalopathy caused by de novo SCN8A mutations [J].

Ohba, Chihiro ;

Kato, Mitsuhiro ;

Takahashi, Satoru ;

Lerman-Sagie, Tally ;

Lev, Dorit ;

Terashima, Hiroshi ;

Kubota, Masaya ;

Kawawaki, Hisashi ;

Matsufuji, Mayumi ;

Kojima, Yasuko ;

Tateno, Akihiko ;

Goldberg-Stern, Hadassa ;

Straussberg, Rachel ;

Marom, Dafna ;

Leshinsky-Silver, Esther ;

Nakashima, Mitsuko ;

Nishiyama, Kiyomi ;

Tsurusaki, Yoshinori ;

Miyake, Noriko ;

Tanaka, Fumiaki ;

Matsumoto, Naomichi ;

Saitsu, Hirotomo .

EPILEPSIA, 2014, 55 (07) :994-1000

[8] Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation [J].

Singh, R. ;

Jayapal, S. ;

Goyal, S. ;

Jungbluth, H. ;

Lascelles, K. .

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2015, 26 :69-71

[9] Electroclinical features of epileptic encephalopathy caused by SCN8A mutation [J].

Takahashi, Satoru ;

Yamamoto, Shiho ;

Okayama, Akie ;

Araki, Akiko ;

Saitsu, Hirotomo ;

Matsumoto, Naomichi ;

Azuma, Hiroshi .

PEDIATRICS INTERNATIONAL, 2015, 57 (04) :758-762

[10] De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP [J].

Veeramah, Krishna R. ;

O'Brien, Janelle E. ;

Meisler, Miriam H. ;

Cheng, Xiaoyang ;

Dib-Hajj, Sulayman D. ;

Waxman, Stephen G. ;

Talwar, Dinesh ;

Girirajan, Santhosh ;

Eichler, Evan E. ;

Restifo, Linda L. ;

Erickson, Robert P. ;

Hammer, Michael F. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2012, 90 (03) :502-510

← 1 2 →