Literature DB >> 25799905

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

R Singh1, S Jayapal1, S Goyal2, H Jungbluth3, K Lascelles4.   

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Year:  2015        PMID： 25799905     DOI： 10.1016/j.seizure.2015.01.017

Source DB:  PubMed          Journal:  Seizure        ISSN： 1059-1311            Impact factor:   3.184


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  11 in total

1.  Precision Medicine: SCN8A Encephalopathy Treated with Sodium Channel Blockers.

Authors:  Rikke S Møller; Katrine M Johannesen
Journal:  Neurotherapeutics       Date:  2016-01       Impact factor: 7.620

2.  SCN8A encephalopathy: Research progress and prospects.

Authors:  Miriam H Meisler; Guy Helman; Michael F Hammer; Brandy E Fureman; William D Gaillard; Alan L Goldin; Shinichi Hirose; Atsushi Ishii; Barbara L Kroner; Christoph Lossin; Heather C Mefford; Jack M Parent; Manoj Patel; John Schreiber; Randall Stewart; Vicky Whittemore; Karen Wilcox; Jacy L Wagnon; Phillip L Pearl; Adeline Vanderver; Ingrid E Scheffer
Journal:  Epilepsia       Date:  2016-06-08       Impact factor: 5.864

3.  The SCN8A encephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin.

Authors:  Bryan S Barker; Matteo Ottolini; Jacy L Wagnon; Rachel M Hollander; Miriam H Meisler; Manoj K Patel
Journal:  Epilepsia       Date:  2016-07-04       Impact factor: 5.864

4.  Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy.

Authors:  Matteo Ottolini; Bryan S Barker; Ronald P Gaykema; Miriam H Meisler; Manoj K Patel
Journal:  J Neurosci       Date:  2017-07-04       Impact factor: 6.167

Review 5.  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

6.  Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathy.

Authors:  Jacy L Wagnon; Bryan S Barker; James A Hounshell; Charlotte A Haaxma; Amy Shealy; Timothy Moss; Sumit Parikh; Ricka D Messer; Manoj K Patel; Miriam H Meisler
Journal:  Ann Clin Transl Neurol       Date:  2015-12-21       Impact factor: 4.511

7.  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

8.  Functional consequences of a KCNT1 variant associated with status dystonicus and early-onset infantile encephalopathy.

Authors:  Tracy S Gertler; Christopher H Thompson; Carlos G Vanoye; John J Millichap; Alfred L George
Journal:  Ann Clin Transl Neurol       Date:  2019-07-15       Impact factor: 4.511

9.  Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.

Authors:  Carlotta Spagnoli; Carlo Fusco; Antonio Percesepe; Vincenzo Leuzzi; Francesco Pisani
Journal:  Int J Mol Sci       Date:  2021-04-18       Impact factor: 5.923

10.  Incorporating epilepsy genetics into clinical practice: a 360°evaluation.

Authors:  Stephanie Oates; Shan Tang; Richard Rosch; Rosalie Lear; Elaine F Hughes; Ruth E Williams; Line H G Larsen; Qin Hao; Hans Atli Dahl; Rikke S Møller; Deb K Pal
Journal:  NPJ Genom Med       Date:  2018-05-10       Impact factor: 8.617
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