Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 141

1.

Epilepsy and outcome in FOXG1-related disorders.

Seltzer LE, Ma M, Ahmed S, Bertrand M, Dobyns WB, Wheless J, Paciorkowski AR.

Epilepsia. 2014 Aug;55(8):1292-300. doi: 10.1111/epi.12648. Epub 2014 May 16.

2.

The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.

Kortüm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, Horn D, Klopocki E, Kluger G, Martin P, Rauch A, Roumer A, Saitta S, Walsh LE, Wieczorek D, Uyanik G, Kutsche K, Dobyns WB.

J Med Genet. 2011 Jun;48(6):396-406. doi: 10.1136/jmg.2010.087528. Epub 2011 Mar 25.

3.

Epilepsy in patients with duplications of chromosome 14 harboring FOXG1.

Pontrelli G, Cappelletti S, Claps D, Sirleto P, Ciocca L, Petrocchi S, Terracciano A, Serino D, Fusco L, Vigevano F, Specchio N.

Pediatr Neurol. 2014 May;50(5):530-5. doi: 10.1016/j.pediatrneurol.2014.01.022. Epub 2014 Jan 11. Review.

PMID:
24731847
4.

14q12 duplication including FOXG1: is there a common age-dependent epileptic phenotype?

Bertossi C, Cassina M, De Palma L, Vecchi M, Rossato S, Toldo I, Donà M, Murgia A, Boniver C, Sartori S.

Brain Dev. 2014 May;36(5):402-7. doi: 10.1016/j.braindev.2013.06.008. Epub 2013 Jul 6. Review.

PMID:
23838309
5.

Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment.

Brunetti-Pierri N, Paciorkowski AR, Ciccone R, Della Mina E, Bonaglia MC, Borgatti R, Schaaf CP, Sutton VR, Xia Z, Jelluma N, Ruivenkamp C, Bertrand M, de Ravel TJ, Jayakar P, Belli S, Rocchetti K, Pantaleoni C, D'Arrigo S, Hughes J, Cheung SW, Zuffardi O, Stankiewicz P.

Eur J Hum Genet. 2011 Jan;19(1):102-7. doi: 10.1038/ejhg.2010.142. Epub 2010 Aug 25.

6.

Familial recurrences of FOXG1-related disorder: Evidence for mosaicism.

McMahon KQ, Papandreou A, Ma M, Barry BJ, Mirzaa GM, Dobyns WB, Scott RH, Trump N, Kurian MA, Paciorkowski AR.

Am J Med Genet A. 2015 Dec;167A(12):3096-102. doi: 10.1002/ajmg.a.37353. Epub 2015 Sep 14.

7.

14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

Allou L, Lambert L, Amsallem D, Bieth E, Edery P, Destrée A, Rivier F, Amor D, Thompson E, Nicholl J, Harbord M, Nemos C, Saunier A, Moustaïne A, Vigouroux A, Jonveaux P, Philippe C.

Eur J Hum Genet. 2012 Dec;20(12):1216-23. doi: 10.1038/ejhg.2012.127. Epub 2012 Jun 27.

8.

4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment.

Yeung A, Bruno D, Scheffer IE, Carranza D, Burgess T, Slater HR, Amor DJ.

Eur J Med Genet. 2009 Nov-Dec;52(6):440-2. doi: 10.1016/j.ejmg.2009.09.004. Epub 2009 Sep 20.

PMID:
19772934
9.

Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.

Bahi-Buisson N, Nectoux J, Girard B, Van Esch H, De Ravel T, Boddaert N, Plouin P, Rio M, Fichou Y, Chelly J, Bienvenu T.

Neurogenetics. 2010 May;11(2):241-9. doi: 10.1007/s10048-009-0220-2. Epub 2009 Oct 6.

PMID:
19806373
10.

Delineation of the movement disorders associated with FOXG1 mutations.

Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM, Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI, Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F, Scott RH, Hurst JA, Perez-Duenas B, Paciorkowski AR, Kurian MA.

Neurology. 2016 May 10;86(19):1794-800. doi: 10.1212/WNL.0000000000002585. Epub 2016 Mar 30.

11.

The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy.

Cellini E, Vignoli A, Pisano T, Falchi M, Molinaro A, Accorsi P, Bontacchio A, Pinelli L, Giordano L, Guerrini R; FOXG1 Syndrome Study Group.

Dev Med Child Neurol. 2016 Jan;58(1):93-7. doi: 10.1111/dmcn.12894. Epub 2015 Sep 6.

12.

Dysregulation of FOXG1 pathway in a 14q12 microdeletion case.

Perche O, Haddad G, Menuet A, Callier P, Marcos M, Briault S, Laudier B.

Am J Med Genet A. 2013 Dec;161A(12):3072-7. doi: 10.1002/ajmg.a.36170. Epub 2013 Aug 16.

PMID:
23956198
13.

14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

Ellaway CJ, Ho G, Bettella E, Knapman A, Collins F, Hackett A, McKenzie F, Darmanian A, Peters GB, Fagan K, Christodoulou J.

Eur J Hum Genet. 2013 May;21(5):522-7. doi: 10.1038/ejhg.2012.208. Epub 2012 Sep 12.

14.
15.

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

Goubau C, Devriendt K, Van der Aa N, Crepel A, Wieczorek D, Kleefstra T, Willemsen MH, Rauch A, Tzschach A, de Ravel T, Leemans P, Van Geet C, Buyse G, Freson K.

Eur J Hum Genet. 2013 Dec;21(12):1349-55. doi: 10.1038/ejhg.2013.86. Epub 2013 May 1.

16.

Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation.

Zhang Q, Wang J, Li J, Bao X, Zhao Y, Zhang X, Wei L, Wu X.

BMC Med Genet. 2017 Aug 29;18(1):96. doi: 10.1186/s12881-017-0455-y.

17.

Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.

Ma M, Adams HR, Seltzer LE, Dobyns WB, Paciorkowski AR.

J Pediatr. 2016 Nov;178:233-240.e10. doi: 10.1016/j.jpeds.2016.08.032. Epub 2016 Sep 15.

PMID:
27640358
18.

A case of Lennox-Gastaut syndrome in a patient with FOXG1-related disorder.

Terrone G, Bienvenu T, Germanaud D, Barthez-Carpentier MA, Diebold B, Delanoe C, Passemard S, Auvin S.

Epilepsia. 2014 Nov;55(11):e116-9. doi: 10.1111/epi.12800. Epub 2014 Sep 29.

19.

A haploinsufficiency of FOXG1 identified in a boy with congenital variant of Rett syndrome.

Kumakura A, Takahashi S, Okajima K, Hata D.

Brain Dev. 2014 Sep;36(8):725-9. doi: 10.1016/j.braindev.2013.09.006. Epub 2013 Oct 16.

PMID:
24139857
20.

Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.

Guerrini R, Parrini E.

Epilepsia. 2012 Dec;53(12):2067-78. doi: 10.1111/j.1528-1167.2012.03656.x. Epub 2012 Sep 21. Review.

Supplemental Content

Support Center