Literature DB >> 29427836

DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene.

Miriam Kolnikova1, Martina Skopkova2, Denisa Ilencikova3, Tomas Foltan1, Jaroslava Payerova1, Daniel Danis2, Iwar Klimes2, Juraj Stanik4, Daniela Gasperikova5.   

Abstract

Entities:  

Keywords:  DNM1 gene; Dynamin 1; Epileptic encephalopathy; Hypomyelination

Mesh：

Substances：

Year:  2018        PMID： 29427836     DOI： 10.1016/j.seizure.2018.01.020

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


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  6 in total

1.  Screening of candidate genes associated with high titer production of oncolytic measles virus based on systems biology approach.

Authors:  Malihe Rastegarpanah; Kayhan Azadmanesh; Babak Negahdari; Yazdan Asgari; Mohammadali Mazloomi
Journal:  Virus Genes       Date:  2022-04-27       Impact factor: 2.332

2.  RNAi-Based Gene Therapy Rescues Developmental and Epileptic Encephalopathy in a Genetic Mouse Model.

Authors:  Osasumwen V Aimiuwu; Allison M Fowler; Megha Sah; Jia Jie Teoh; Ayla Kanber; Nettie K Pyne; Sabrina Petri; Chana Rosenthal-Weiss; Mu Yang; Scott Q Harper; Wayne N Frankel
Journal:  Mol Ther       Date:  2020-04-16       Impact factor: 11.454

3.  Confirming the pathogenicity of NECAP1 in early onset epileptic encephalopathy.

Authors:  Saud Alsahli; Waleed Al-Twaijri; Fuad Al Mutairi
Journal:  Epilepsia Open       Date:  2018-11-12

4.  Clinical Assessments and EEG Analyses of Encephalopathies Associated With Dynamin-1 Mutation.

Authors:  Hua Li; Fang Fang; Manting Xu; Zhimei Liu; Ji Zhou; Xiaohui Wang; Xiaofei Wang; Tongli Han
Journal:  Front Pharmacol       Date:  2019-12-04       Impact factor: 5.810

Review 5.  Synaptopathies in Developmental and Epileptic Encephalopathies: A Focus on Pre-synaptic Dysfunction.

Authors:  Giulia Spoto; Giulia Valentini; Maria Concetta Saia; Ambra Butera; Greta Amore; Vincenzo Salpietro; Antonio Gennaro Nicotera; Gabriella Di Rosa
Journal:  Front Neurol       Date:  2022-03-08       Impact factor: 4.003

6.  Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state.

Authors:  Gökhan Yigit; Ruth Sheffer; Muhannad Daana; Bernd Wollnik; Knut Brockmann; Yun Li; Emrah Kaygusuz; Hagar Mor-Shakad; Janine Altmüller; Peter Nürnberg; Liza Douiev; Silke Kaulfuss; Peter Burfeind
Journal:  J Med Genet       Date:  2021-06-25       Impact factor: 5.941
  6 in total

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