Literature DB >> 20126336

Westward ho! Pioneering mouse models for x-linked infantile spasms syndrome.

Janice R Naegele.   

Abstract

Entities:  

Year:  2010        PMID： 20126336      PMCID： PMC2812720          DOI： 10.1111/j.1535-7511.2009.01343.x

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


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  20 in total

1.  ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation.

Authors:  Thierry Bienvenu; Karine Poirier; Gaelle Friocourt; Nadia Bahi; Delphine Beaumont; Fabien Fauchereau; Lamia Ben Jeema; Ramzi Zemni; Marie-Claude Vinet; Fiona Francis; Philippe Couvert; Marie Gomot; Claude Moraine; Hans van Bokhoven; Vera Kalscheuer; Suzanne Frints; Josef Gecz; Kanae Ohzaki; Habiba Chaabouni; Jean-Pierre Fryns; Vincent Desportes; Cherif Beldjord; Jamel Chelly
Journal:  Hum Mol Genet       Date:  2002-04-15       Impact factor: 6.150

Review 2.  Infantile spasms.

Authors:  M Wong; E Trevathan
Journal:  Pediatr Neurol       Date:  2001-02       Impact factor: 3.372

3.  Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.

Authors:  Kunio Kitamura; Masako Yanazawa; Noriyuki Sugiyama; Hirohito Miura; Akiko Iizuka-Kogo; Masatomo Kusaka; Kayo Omichi; Rika Suzuki; Yuko Kato-Fukui; Kyoko Kamiirisa; Mina Matsuo; Shin-ichi Kamijo; Megumi Kasahara; Hidefumi Yoshioka; Tsutomu Ogata; Takayuki Fukuda; Ikuko Kondo; Mitsuhiro Kato; William B Dobyns; Minesuke Yokoyama; Ken-ichirou Morohashi
Journal:  Nat Genet       Date:  2002-10-15       Impact factor: 38.330

4.  Infantile spasms is associated with deletion of the MAGI2 gene on chromosome 7q11.23-q21.11.

Authors:  Christian R Marshall; Edwin J Young; Ariel M Pani; Mary-Louise Freckmann; Yves Lacassie; Cédric Howald; Kristi K Fitzgerald; Maarit Peippo; Colleen A Morris; Kate Shane; Manuela Priolo; Masafumi Morimoto; Ikuko Kondo; Esra Manguoglu; Sibel Berker-Karauzum; Patrick Edery; Holly H Hobart; Carolyn B Mervis; Orsetta Zuffardi; Alexandre Reymond; Paige Kaplan; May Tassabehji; Ronald G Gregg; Stephen W Scherer; Lucy R Osborne
Journal:  Am J Hum Genet       Date:  2008-06-19       Impact factor: 11.025

5.  Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX.

Authors:  Petter Strømme; Marie E Mangelsdorf; Ingrid E Scheffer; Jozef Gécz
Journal:  Brain Dev       Date:  2002-08       Impact factor: 1.961

6.  Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.

Authors:  R Guerrini; F Moro; M Kato; A J Barkovich; T Shiihara; M A McShane; J Hurst; M Loi; J Tohyama; V Norci; K Hayasaka; U J Kang; S Das; W B Dobyns
Journal:  Neurology       Date:  2007-07-31       Impact factor: 9.910

7.  De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.

Authors:  Hirotomo Saitsu; Mitsuhiro Kato; Takeshi Mizuguchi; Keisuke Hamada; Hitoshi Osaka; Jun Tohyama; Katsuhisa Uruno; Satoko Kumada; Kiyomi Nishiyama; Akira Nishimura; Ippei Okada; Yukiko Yoshimura; Syu-ichi Hirai; Tatsuro Kumada; Kiyoshi Hayasaka; Atsuo Fukuda; Kazuhiro Ogata; Naomichi Matsumoto
Journal:  Nat Genet       Date:  2008-05-11       Impact factor: 38.330

8.  A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment.

Authors:  Maureen G Price; Jong W Yoo; Daniel L Burgess; Fang Deng; Richard A Hrachovy; James D Frost; Jeffrey L Noebels
Journal:  J Neurosci       Date:  2009-07-08       Impact factor: 6.167

9.  Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor.

Authors:  O McKenzie; I Ponte; M Mangelsdorf; M Finnis; G Colasante; C Shoubridge; S Stifani; J Gécz; V Broccoli
Journal:  Neuroscience       Date:  2007-02-27       Impact factor: 3.590

10.  Identification of Arx transcriptional targets in the developing basal forebrain.

Authors:  Carl T Fulp; Ginam Cho; Eric D Marsh; Ilya M Nasrallah; Patricia A Labosky; Jeffrey A Golden
Journal:  Hum Mol Genet       Date:  2008-09-16       Impact factor: 6.150
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