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Items: 1 to 20 of 32

1.

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females.

Marsh E, Fulp C, Gomez E, Nasrallah I, Minarcik J, Sudi J, Christian SL, Mancini G, Labosky P, Dobyns W, Brooks-Kayal A, Golden JA.

Brain. 2009 Jun;132(Pt 6):1563-76. doi: 10.1093/brain/awp107. Epub 2009 May 12.

2.

Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.

Olivetti PR, Noebels JL.

Curr Opin Neurobiol. 2012 Oct;22(5):859-65. doi: 10.1016/j.conb.2012.04.006. Epub 2012 May 5. Review.

3.
4.

A new paradigm for West syndrome based on molecular and cell biology.

Kato M.

Epilepsy Res. 2006 Aug;70 Suppl 1:S87-95. Epub 2006 Jun 23. Review.

PMID:
16806828
5.

X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations.

Hirose S, Mitsudome A.

Brain Dev. 2003 Apr;25(3):161-5. Review.

PMID:
12689693
6.

Genetics of the epilepsies.

Gutierrez-Delicado E, Serratosa JM.

Curr Opin Neurol. 2004 Apr;17(2):147-53. Review.

PMID:
15021241
7.

Developing Models of Aristaless-related homeobox mutations.

Marsh ED, Golden JA.

In: Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies [Internet]. 4th edition. Bethesda (MD): National Center for Biotechnology Information (US); 2012.

8.

ARX spectrum disorders: making inroads into the molecular pathology.

Shoubridge C, Fullston T, Gécz J.

Hum Mutat. 2010 Aug;31(8):889-900. doi: 10.1002/humu.21288. Review.

PMID:
20506206
9.

Basic mechanisms of catastrophic epilepsy -- overview from animal models.

Galanopoulou AS.

Brain Dev. 2013 Sep;35(8):748-56. doi: 10.1016/j.braindev.2012.12.005. Epub 2013 Jan 11. Review.

10.

The phenotypic spectrum of ARX mutations.

Suri M.

Dev Med Child Neurol. 2005 Feb;47(2):133-7. Review.

PMID:
15707237
11.

The aristaless (Arx) gene: one gene for many "interneuronopathies".

Ruggieri M, Pavone P, Scapagnini G, Romeo L, Lombardo I, Li Volti G, Corsello G, Pavone L.

Front Biosci (Elite Ed). 2010 Jan 1;2:701-10. Review.

PMID:
20036914
12.

[ARX--one gene--many phenotypes].

Lisik M, Sieroń AL.

Neurol Neurochir Pol. 2008 Jul-Aug;42(4):338-44. Review. Polish.

PMID:
18975239
13.

Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance.

Duszyc K, Terczynska I, Hoffman-Zacharska D.

J Appl Genet. 2015 Feb;56(1):49-56. doi: 10.1007/s13353-014-0243-8. Epub 2014 Sep 10. Review.

PMID:
25204757
14.

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing.

Guerrini R, Carrozzo R.

Seizure. 2002 Apr;11 Suppl A:532-43; quiz 544-7. Review.

PMID:
12185771
15.

ARX: a gene for all seasons.

Gécz J, Cloosterman D, Partington M.

Curr Opin Genet Dev. 2006 Jun;16(3):308-16. Epub 2006 May 2. Review.

PMID:
16650978
16.

Cortical interneuron dysfunction in epilepsy associated with autism spectrum disorders.

Jacob J.

Epilepsia. 2016 Feb;57(2):182-93. doi: 10.1111/epi.13272. Epub 2015 Dec 19. Review.

17.
18.

Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies.

Galanopoulou AS, Moshé SL.

Neurobiol Dis. 2015 Jul;79:135-49. doi: 10.1016/j.nbd.2015.04.015. Epub 2015 May 9. Review.

19.

Genetic approaches to studying mouse models of human seizure disorders.

Yang Y, Frankel WN.

Adv Exp Med Biol. 2004;548:1-11. Review.

PMID:
15250582
20.

Genetic and biologic classification of infantile spasms.

Paciorkowski AR, Thio LL, Dobyns WB.

Pediatr Neurol. 2011 Dec;45(6):355-67. doi: 10.1016/j.pediatrneurol.2011.08.010. Review.

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