Literature DB >> 26553437

Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers.

Rikke S Møller1,2, Katrine M Johannesen3,4.   

Abstract

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Year:  2016        PMID： 26553437      PMCID： PMC4720666          DOI： 10.1007/s13311-015-0403-5

Source DB:  PubMed          Journal:  Neurotherapeutics        ISSN： 1878-7479            Impact factor:   7.620


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  11 in total

1.  Erratum to: Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach.

Authors:  Ragna S Boerma; Kees P Braun; Marcel P H van den Broek; Frederique M C van Berkestijn; Marielle E Swinkels; Eveline O Hagebeuk; Dick Lindhout; Marjan van Kempen; Maartje Boon; Joost Nicolai; Carolien G de Kovel; Eva H Brilstra; Bobby P C Koeleman
Journal:  Neurotherapeutics       Date:  2016-01       Impact factor: 7.620

2.  The phenotypic spectrum of SCN8A encephalopathy.

Authors:  Jan Larsen; Gemma L Carvill; Elena Gardella; Gerhard Kluger; Gudrun Schmiedel; Nina Barisic; Christel Depienne; Eva Brilstra; Yuan Mang; Jens Erik Klint Nielsen; Martin Kirkpatrick; David Goudie; Rebecca Goldman; Johanna A Jähn; Birgit Jepsen; Deepak Gill; Miriam Döcker; Saskia Biskup; Jacinta M McMahon; Bobby Koeleman; Mandy Harris; Kees Braun; Carolien G F de Kovel; Carla Marini; Nicola Specchio; Tania Djémié; Sarah Weckhuysen; Niels Tommerup; Monica Troncoso; Ledia Troncoso; Andrea Bevot; Markus Wolff; Helle Hjalgrim; Renzo Guerrini; Ingrid E Scheffer; Heather C Mefford; Rikke S Møller
Journal:  Neurology       Date:  2015-01-07       Impact factor: 9.910

3.  De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

Authors:  Krishna R Veeramah; Janelle E O'Brien; Miriam H Meisler; Xiaoyang Cheng; Sulayman D Dib-Hajj; Stephen G Waxman; Dinesh Talwar; Santhosh Girirajan; Evan E Eichler; Linda L Restifo; Robert P Erickson; Michael F Hammer
Journal:  Am J Hum Genet       Date:  2012-02-23       Impact factor: 11.025

4.  Carbamazepine inhibition of neuronal Na+ currents: quantitative distinction from phenytoin and possible therapeutic implications.

Authors:  C C Kuo; R S Chen; L Lu; R C Chen
Journal:  Mol Pharmacol       Date:  1997-06       Impact factor: 4.436

5.  SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.

Authors:  Weijing Kong; Yujia Zhang; Yang Gao; Xiaoyan Liu; Kai Gao; Han Xie; Jingmin Wang; Ye Wu; Yuehua Zhang; Xiru Wu; Yuwu Jiang
Journal:  Epilepsia       Date:  2015-02-26       Impact factor: 5.864

6.  Early-onset movement disorder and epileptic encephalopathy due to de novo dominant SCN8A mutation.

Authors:  R Singh; S Jayapal; S Goyal; H Jungbluth; K Lascelles
Journal:  Seizure       Date:  2015-02-07       Impact factor: 3.184

7.  Electroclinical features of epileptic encephalopathy caused by SCN8A mutation.

Authors:  Satoru Takahashi; Shiho Yamamoto; Akie Okayama; Akiko Araki; Hirotomo Saitsu; Naomichi Matsumoto; Hiroshi Azuma
Journal:  Pediatr Int       Date:  2015-05-06       Impact factor: 1.524

8.  Early onset epileptic encephalopathy caused by de novo SCN8A mutations.

Authors:  Chihiro Ohba; Mitsuhiro Kato; Satoru Takahashi; Tally Lerman-Sagie; Dorit Lev; Hiroshi Terashima; Masaya Kubota; Hisashi Kawawaki; Mayumi Matsufuji; Yasuko Kojima; Akihiko Tateno; Hadassa Goldberg-Stern; Rachel Straussberg; Dafna Marom; Esther Leshinsky-Silver; Mitsuko Nakashima; Kiyomi Nishiyama; Yoshinori Tsurusaki; Noriko Miyake; Fumiaki Tanaka; Naomichi Matsumoto; Hirotomo Saitsu
Journal:  Epilepsia       Date:  2014-06-02       Impact factor: 5.864

9.  De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.

Authors:  Maxime G Blanchard; Marjolein H Willemsen; Jaclyn B Walker; Sulayman D Dib-Hajj; Stephen G Waxman; Marjolijn C J Jongmans; Tjitske Kleefstra; Bart P van de Warrenburg; Peter Praamstra; Joost Nicolai; Helger G Yntema; René J M Bindels; Miriam H Meisler; Erik-Jan Kamsteeg
Journal:  J Med Genet       Date:  2015-02-27       Impact factor: 6.318

Review 10.  Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy.

Authors:  Jacy L Wagnon; Miriam H Meisler
Journal:  Front Neurol       Date:  2015-05-15       Impact factor: 4.003
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  8 in total

1.  Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies.

Authors:  Rikke S Møller; Line H G Larsen; Katrine M Johannesen; Inga Talvik; Tiina Talvik; Ulvi Vaher; Maria J Miranda; Muhammad Farooq; Jens E K Nielsen; Lene Lavard Svendsen; Ditte B Kjelgaard; Karen M Linnet; Qin Hao; Peter Uldall; Mimoza Frangu; Niels Tommerup; Shahid M Baig; Uzma Abdullah; Alfred P Born; Pia Gellert; Marina Nikanorova; Kern Olofsson; Birgit Jepsen; Dragan Marjanovic; Lana I K Al-Zehhawi; Sofia J Peñalva; Bente Krag-Olsen; Klaus Brusgaard; Helle Hjalgrim; Guido Rubboli; Deb K Pal; Hans A Dahl
Journal:  Mol Syndromol       Date:  2016-08-20

Review 2.  Rational Small Molecule Treatment for Genetic Epilepsies.

Authors:  Ethan M Goldberg
Journal:  Neurotherapeutics       Date:  2021-08-24       Impact factor: 6.088

Review 3.  Electrophysiological Biomarkers in Genetic Epilepsies.

Authors:  Caren Armstrong; Eric D Marsh
Journal:  Neurotherapeutics       Date:  2021-10-12       Impact factor: 6.088

4.  SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures.

Authors:  Jiaping Wang; Hua Gao; Xinhua Bao; Qingping Zhang; Jiarui Li; Liping Wei; Xiru Wu; Yan Chen; Shujie Yu
Journal:  BMC Med Genet       Date:  2017-09-18       Impact factor: 2.103

5.  A single-center SCN8A-related epilepsy cohort: clinical, genetic, and physiologic characterization.

Authors:  Tariq Zaman; Ahmad Abou Tayoun; Ethan M Goldberg
Journal:  Ann Clin Transl Neurol       Date:  2019-07-23       Impact factor: 4.511

6.  NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome.

Authors:  Wout J Weuring; Sakshi Singh; Linda Volkers; Martin B Rook; Ruben H van 't Slot; Marjolein Bosma; Marco Inserra; Irina Vetter; Nanda M Verhoeven-Duif; Kees P J Braun; Mirko Rivara; Bobby P C Koeleman
Journal:  PLoS One       Date:  2020-03-05       Impact factor: 3.240

7.  A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report.

Authors:  Kao-Min Lin; Geng Su; Fengpeng Wang; Xiaobin Zhang; Yuanqing Wang; Jun Ren; Xin Wang; Yi Yao; Ying Zhou
Journal:  BMC Pediatr       Date:  2019-11-01       Impact factor: 2.125

8.  Genome sequencing of 320 Chinese children with epilepsy: a clinical and molecular study.

Authors:  Dongfang Zou; Lin Wang; Jianxiang Liao; Hongdou Xiao; Jing Duan; Tongda Zhang; Jianbiao Li; Zhenzhen Yin; Jing Zhou; Haisheng Yan; Yushan Huang; Nianji Zhan; Ying Yang; Jingyu Ye; Fang Chen; Shida Zhu; Feiqiu Wen; Jian Guo
Journal:  Brain       Date:  2021-12-31       Impact factor: 13.501
  8 in total

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