Literature DB >> 24408008

Does variation in NIPA2 contribute to genetic generalized epilepsy?

Michael S Hildebrand1, John A Damiano, Saul A Mullen, Susannah T Bellows, Ingrid E Scheffer, Samuel F Berkovic.   

Abstract

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Year:  2014        PMID： 24408008     DOI： 10.1007/s00439-013-1414-0

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


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  1 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
  1 in total
  5 in total

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

Authors:  Yuwu Jiang; Yuehua Zhang; Pingping Zhang; Feng Zhang; Han Xie; Piu Chan; Xiru Wu
Journal:  Hum Genet       Date:  2014-02-06       Impact factor: 4.132

2.  Microduplications at the 15q11.2 BP1-BP2 locus are enriched in patients with anorexia nervosa.

Authors:  Xiao Chang; Huiqi Qu; Yichuan Liu; Joseph Glessner; Cuiping Hou; Fengxiang Wang; Jin Li; Patrick Sleiman; Hakon Hakonarson
Journal:  J Psychiatr Res       Date:  2019-01-29       Impact factor: 4.791

3.  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 4.  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

5.  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
  5 in total

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