Literature DB >> 25997620

Maintaining the balance: both gain- and loss-of-function KCNA2 mutants cause epileptic encephalopathy.

B I Drögemöller1.   

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Year:  2015        PMID： 25997620     DOI： 10.1111/cge.12615

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  2 in total

1.  Pharmacogenetic and case-control study on potassium channel related gene variants and genetic generalized epilepsy.

Authors:  Jian Qu; Shao-Hua Lu; Zhi-Li Lu; Ping Xu; Da-Xiong Xiang; Qiang Qu
Journal:  Medicine (Baltimore)       Date:  2017-06       Impact factor: 1.889

2.  Myoclonic Epilepsy: Case Report of a Mild Phenotype in a Pediatric Patient Expanding Clinical Spectrum of KCNA2 Pathogenic Variants.

Authors:  Lorenzo Perilli; Gioia Mastromoro; Manuel Murciano; Ilaria Amedeo; Federica Avenoso; Antonio Pizzuti; Cristiana Alessia Guido; Alberto Spalice
Journal:  Front Neurol       Date:  2022-02-01       Impact factor: 4.003
  2 in total

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