Literature DB >> 27799865

Heterozygous STXBP1 Mutations Associated With Ohtahara Syndrome: Two Littles Make a Lot.

Vanesa Nieto-Estévez, Jenny Hsieh.   

Abstract

Entities:  

Year:  2016        PMID： 27799865      PMCID： PMC5083058          DOI： 10.5698/1535-7511-16.5.330

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN： 1535-7511            Impact factor:   7.500


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  11 in total

1.  Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.

Authors:  Naomi Hino-Fukuyo; Atsuo Kikuchi; Natsuko Arai-Ichinoi; Tetsuya Niihori; Ryo Sato; Tasuku Suzuki; Hiroki Kudo; Yuko Sato; Tojo Nakayama; Yosuke Kakisaka; Yuki Kubota; Tomoko Kobayashi; Ryo Funayama; Keiko Nakayama; Mitsugu Uematsu; Yoko Aoki; Kazuhiro Haginoya; Shigeo Kure
Journal:  Hum Genet       Date:  2015-04-16       Impact factor: 4.132

2.  Functional cortical neurons and astrocytes from human pluripotent stem cells in 3D culture.

Authors:  Anca M Paşca; Steven A Sloan; Laura E Clarke; Yuan Tian; Christopher D Makinson; Nina Huber; Chul Hoon Kim; Jin-Young Park; Nancy A O'Rourke; Khoa D Nguyen; Stephen J Smith; John R Huguenard; Daniel H Geschwind; Ben A Barres; Sergiu P Paşca
Journal:  Nat Methods       Date:  2015-05-25       Impact factor: 28.547

3.  Genome engineering using the CRISPR-Cas9 system.

Authors:  F Ann Ran; Patrick D Hsu; Jason Wright; Vineeta Agarwala; David A Scott; Feng Zhang
Journal:  Nat Protoc       Date:  2013-10-24       Impact factor: 13.491

4.  Cortical alterations in a model for absence epilepsy and febrile seizures: in vivo findings in mice carrying a human GABA(A)R gamma2 subunit mutation.

Authors:  Jens Witsch; Daniel Golkowski; Thomas T G Hahn; Steven Petrou; Hartwig Spors
Journal:  Neurobiol Dis       Date:  2015-02-27       Impact factor: 5.996

5.  Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors.

Authors:  Kazutoshi Takahashi; Shinya Yamanaka
Journal:  Cell       Date:  2006-08-10       Impact factor: 41.582

6.  Analysis of conditional heterozygous STXBP1 mutations in human neurons.

Authors:  Christopher Patzke; Yan Han; Jason Covy; Fei Yi; Stephan Maxeiner; Marius Wernig; Thomas C Südhof
Journal:  J Clin Invest       Date:  2015-08-17       Impact factor: 14.808

7.  Rapid single-step induction of functional neurons from human pluripotent stem cells.

Authors:  Yingsha Zhang; Changhui Pak; Yan Han; Henrik Ahlenius; Zhenjie Zhang; Soham Chanda; Samuele Marro; Christopher Patzke; Claudio Acuna; Jason Covy; Wei Xu; Nan Yang; Tamas Danko; Lu Chen; Marius Wernig; Thomas C Südhof
Journal:  Neuron       Date:  2013-06-05       Impact factor: 17.173

8.  Cerebral organoids model human brain development and microcephaly.

Authors:  Madeline A Lancaster; Magdalena Renner; Carol-Anne Martin; Daniel Wenzel; Louise S Bicknell; Matthew E Hurles; Tessa Homfray; Josef M Penninger; Andrew P Jackson; Juergen A Knoblich
Journal:  Nature       Date:  2013-08-28       Impact factor: 49.962

9.  De novo mutations in moderate or severe intellectual disability.

Authors:  Fadi F Hamdan; Myriam Srour; Jose-Mario Capo-Chichi; Hussein Daoud; Christina Nassif; Lysanne Patry; Christine Massicotte; Amirthagowri Ambalavanan; Dan Spiegelman; Ousmane Diallo; Edouard Henrion; Alexandre Dionne-Laporte; Anne Fougerat; Alexey V Pshezhetsky; Sunita Venkateswaran; Guy A Rouleau; Jacques L Michaud
Journal:  PLoS Genet       Date:  2014-10-30       Impact factor: 5.917

Review 10.  Advancing epilepsy genetics in the genomic era.

Authors:  Candace T Myers; Heather C Mefford
Journal:  Genome Med       Date:  2015-08-25       Impact factor: 11.117
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