Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment
N. Brunetti-Pierri, A.R. Paciorkowski, and R. Ciccone et al. Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment Eur J Hum Genet 19 2011 102 107
4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment
A. Yeung, D. Bruno, and I.E. Scheffer et al. 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment Eur J Med Genet 52 2009 440 442
Copy number variants and infantile spasms: Evidence for abnormalities in ventral forebrain development and pathways of synaptic function
A.R. Paciorkowski, L.L. Thio, and J.A. Rosenfeld et al. Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function Eur J Hum Genet 19 2011 1238 1245
West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14
J. Tohyama, T. Yamamoto, and K. Hosoki et al. West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14 Am J Med Genet A 155A 2011 2584 2588
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
F. Kortum, S. Das, and M. Flindt et al. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis J Med Genet 48 2011 396 406
Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes
M. Kagami, Y. Sekita, and G. Nishimura et al. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes Nat Genet 40 2008 237 242