Literature DB >> 21536641

West syndrome associated with 14q12 duplications harboring FOXG1.

P Striano1, R Paravidino, F Sicca, P Chiurazzi, S Gimelli, A Coppola, A Robbiano, M Traverso, M Pintaudi, S Giovannini, F Operto, P Vigliano, T Granata, G Coppola, A Romeo, N Specchio, L Giordano, L R Osborne, G Gimelli, C Minetti, F Zara.   

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Year:  2011        PMID： 21536641     DOI： 10.1212/WNL.0b013e3182194bbf

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  23 in total

1.  Questionable pathogenicity of FOXG1 duplication.

Authors:  David J Amor; Trent Burgess; Tiong Y Tan; Mark D Pertile
Journal:  Eur J Hum Genet       Date:  2012-01-18       Impact factor: 4.246

2.  Do regulatory regions matter in FOXG1 duplications?

Authors:  Antonio Falace; Nicola Vanni; Antonello Mallamaci; Pasquale Striano; Federico Zara
Journal:  Eur J Hum Genet       Date:  2012-07-04       Impact factor: 4.246

Review 3.  Autism spectrum disorder and epilepsy: Disorders with a shared biology.

Authors:  Bo Hoon Lee; Tristram Smith; Alex R Paciorkowski
Journal:  Epilepsy Behav       Date:  2015-04-19       Impact factor: 2.937

Review 4.  The genetics of the epilepsies.

Authors:  Christelle M El Achkar; Heather E Olson; Annapurna Poduri; Phillip L Pearl
Journal:  Curr Neurol Neurosci Rep       Date:  2015-07       Impact factor: 5.081

5.  14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements.

Authors:  Lila Allou; Laetitia Lambert; Daniel Amsallem; Eric Bieth; Patrick Edery; Anne Destrée; François Rivier; David Amor; Elizabeth Thompson; Julian Nicholl; Michael Harbord; Christophe Nemos; Aline Saunier; Aissa Moustaïne; Adeline Vigouroux; Philippe Jonveaux; Christophe Philippe
Journal:  Eur J Hum Genet       Date:  2012-06-27       Impact factor: 4.246

6.  Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications.

Authors:  Przemyslaw Szafranski; Sailaja Golla; Weihong Jin; Ping Fang; Patricia Hixson; Reuben Matalon; Daniel Kinney; Hans-Georg Bock; William Craigen; Janice L Smith; Weimin Bi; Ankita Patel; Sau Wai Cheung; Carlos A Bacino; Paweł Stankiewicz
Journal:  Eur J Hum Genet       Date:  2014-10-15       Impact factor: 4.246

7.  APC conditional knock-out mouse is a model of infantile spasms with elevated neuronal β-catenin levels, neonatal spasms, and chronic seizures.

Authors:  Antonella Pirone; Jonathan Alexander; Lauren A Lau; David Hampton; Andrew Zayachkivsky; Amy Yee; Audrey Yee; Michele H Jacob; Chris G Dulla
Journal:  Neurobiol Dis       Date:  2016-11-13       Impact factor: 5.996

8.  Copy number variation plays an important role in clinical epilepsy.

Authors:  Heather Olson; Yiping Shen; Jennifer Avallone; Beth R Sheidley; Rebecca Pinsky; Ann M Bergin; Gerard T Berry; Frank H Duffy; Yaman Eksioglu; David J Harris; Fuki M Hisama; Eugenia Ho; Mira Irons; Christina M Jacobsen; Philip James; Sanjeev Kothare; Omar Khwaja; Jonathan Lipton; Tobias Loddenkemper; Jennifer Markowitz; Kiran Maski; J Thomas Megerian; Edward Neilan; Peter C Raffalli; Michael Robbins; Amy Roberts; Eugene Roe; Caitlin Rollins; Mustafa Sahin; Dean Sarco; Alison Schonwald; Sharon E Smith; Janet Soul; Joan M Stoler; Masanori Takeoka; Wen-Han Tan; Alcy R Torres; Peter Tsai; David K Urion; Laura Weissman; Robert Wolff; Bai-Lin Wu; David T Miller; Annapurna Poduri
Journal:  Ann Neurol       Date:  2014-06-13       Impact factor: 10.422

9.  Foxg1 coordinates the switch from nonradially to radially migrating glutamatergic subtypes in the neocortex through spatiotemporal repression.

Authors:  Takuma Kumamoto; Ken-ichi Toma; William L McKenna; Takeya Kasukawa; Sol Katzman; Bin Chen; Carina Hanashima
Journal:  Cell Rep       Date:  2013-03-21       Impact factor: 9.423

10.  14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.

Authors:  Carolyn J Ellaway; Gladys Ho; Elisa Bettella; Alisa Knapman; Felicity Collins; Anna Hackett; Fiona McKenzie; Artur Darmanian; Gregory B Peters; Kerry Fagan; John Christodoulou
Journal:  Eur J Hum Genet       Date:  2012-09-12       Impact factor: 4.246
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