Literature DB >> 24500577

NIPA2 mutations are correlative with childhood absence epilepsy in the Han Chinese population.

Yuwu Jiang1, Yuehua Zhang, Pingping Zhang, Feng Zhang, Han Xie, Piu Chan, Xiru Wu.   

Abstract

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Year:  2014        PMID： 24500577     DOI： 10.1007/s00439-014-1428-2

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


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  3 in total

1.  NIPA2 located in 15q11.2 is mutated in patients with childhood absence epilepsy.

Authors:  Yuwu Jiang; Yuehua Zhang; Pingping Zhang; Tian Sang; Feng Zhang; Taoyun Ji; Qionghui Huang; Han Xie; Renqian Du; Bin Cai; Haijuan Zhao; Jingmin Wang; Ye Wu; Husheng Wu; Keming Xu; Xiaoyan Liu; Piu Chan; Xiru Wu
Journal:  Hum Genet       Date:  2012-02-26       Impact factor: 4.132

2.  Does variation in NIPA2 contribute to genetic generalized epilepsy?

Authors:  Michael S Hildebrand; John A Damiano; Saul A Mullen; Susannah T Bellows; Ingrid E Scheffer; Samuel F Berkovic
Journal:  Hum Genet       Date:  2014-01-10       Impact factor: 4.132

3.  Evolution and functional impact of rare coding variation from deep sequencing of human exomes.

Authors:  Jacob A Tennessen; Abigail W Bigham; Timothy D O'Connor; Wenqing Fu; Eimear E Kenny; Simon Gravel; Sean McGee; Ron Do; Xiaoming Liu; Goo Jun; Hyun Min Kang; Daniel Jordan; Suzanne M Leal; Stacey Gabriel; Mark J Rieder; Goncalo Abecasis; David Altshuler; Deborah A Nickerson; Eric Boerwinkle; Shamil Sunyaev; Carlos D Bustamante; Michael J Bamshad; Joshua M Akey
Journal:  Science       Date:  2012-05-17       Impact factor: 47.728
  3 in total
  5 in total

1.  Functional study of NIPA2 mutations identified from the patients with childhood absence epilepsy.

Authors:  Han Xie; Yuehua Zhang; Pingping Zhang; Jingmin Wang; Ye Wu; Xiru Wu; Theoden Netoff; Yuwu Jiang
Journal:  PLoS One       Date:  2014-10-27       Impact factor: 3.240

Review 2.  The 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome: In Silico Analyses of the Four Coding Genes Reveal Functional Associations with Neurodevelopmental Phenotypes.

Authors:  Syed K Rafi; Merlin G Butler
Journal:  Int J Mol Sci       Date:  2020-05-06       Impact factor: 5.923

3.  Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome.

Authors:  Kyle W Davis; Moises Serrano; Sara Loddo; Catherine Robinson; Viola Alesi; Bruno Dallapiccola; Antonio Novelli; Merlin G Butler
Journal:  Int J Mol Sci       Date:  2019-03-22       Impact factor: 5.923

4.  The absence of NIPA2 enhances neural excitability through BK (big potassium) channels.

Authors:  Na-Na Liu; Han Xie; Wen-Shu Xiang-Wei; Kai Gao; Tian-Shuang Wang; Yu-Wu Jiang
Journal:  CNS Neurosci Ther       Date:  2019-03-20       Impact factor: 5.243

5.  Phenotypic Diversity of 15q11.2 BP1-BP2 Deletion in Three Korean Families with Development Delay and/or Intellectual Disability: A Case Series and Literature Review.

Authors:  Ji Yoon Han; Joonhong Park
Journal:  Diagnostics (Basel)       Date:  2021-04-19
  5 in total

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