FOXG1 syndrome
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females.
|
19564653 |
2010 |
FOXG1 syndrome
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Revisiting the phenotype associated with FOXG1 mutations: two novel cases of congenital Rett variant.
|
19806373 |
2010 |
FOXG1 syndrome
|
0.790 |
CausalMutation
|
disease |
CLINVAR |
Here, we report the identification of FOXG1-truncating mutations in two patients affected by the congenital variant of Rett syndrome.
|
18571142 |
2008 |
FOXG1 syndrome
|
0.790 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Here, we report the identification of FOXG1-truncating mutations in two patients affected by the congenital variant of Rett syndrome.
|
18571142 |
2008 |
FOXG1 syndrome
|
0.790 |
Biomarker
|
disease |
CTD_human |
|
|
|
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
The regulation of the post-mitotic neural survival activity of TLE1 depends critically on an interaction with FOXG1, a gene shown to be involved in a postnatal microcephaly syndrome.
|
29758293 |
2018 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Homozygous knockout of Foxg1 in mice leads to severe microcephaly, attributed to premature differentiation of telencephalic progenitors, mainly of cortical progenitors.
|
29080444 |
2017 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Its complete absence is embryonic lethal while Foxg1 heterozygous mice are viable but display microcephaly, altered hippocampal neurogenesis and behavioral and cognitive deficiencies.
|
25966633 |
2016 |
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
FOXG1-related disorders are caused by heterozygous mutations in FOXG1 and result in a spectrum of neurodevelopmental phenotypes including postnatal microcephaly, intellectual disability with absent speech, epilepsy, chorea, and corpus callosum abnormalities.
|
26364767 |
2015 |
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Children with deletions or intragenic mutations of FOXG1 also have postnatal microcephaly, morphologic abnormalities of the corpus callosum, and choreiform movements.
|
24836831 |
2014 |
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Hypo- or agenesis of the anterior corpus callosum in combination with acquired microcephaly and neurologic impairment can be an important clue for identifying patients with a mutation in FOXG1.
|
24388699 |
2014 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
Thus, we hypothesize that FOXG1 might be a new candidate gene in the etiology of LGS and suggest screening for this gene in cases of LGS with concomitant microcephaly and clinical features overlapping with Rett syndrome.
|
25266269 |
2014 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
We believe that the FOXG1 gene should be considered in severely mentally retarded patients (no speech-language) with severe acquired microcephaly (-4 to-6 SD) and few clinical features suggestive of Rett syndrome.
|
22739344 |
2012 |
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We screened the FOXG1 gene in a cohort of 206 MECP2 and CDKL5 mutation negative patients (136 females and 70 males) with severe encephalopathy and microcephaly.
|
19806373 |
2010 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
BEFREE |
FOXG1B (forkhead box G1B) is a very intriguing candidate gene since it is known to promote neuronal progenitor proliferation and to suppress premature neurogenesis and its disruption is reported in a patient with postnatal microcephaly, corpus callosum agenesis, seizures, and severe mental retardation.
|
18627055 |
2008 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
CTD_human |
A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett-like features.
|
18627055 |
2008 |
Microcephaly
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly.
|
16133170 |
2005 |
Microcephaly
|
0.500 |
Biomarker
|
disease |
HPO |
|
|
|
Seizures
|
0.450 |
GeneticVariation
|
phenotype |
BEFREE |
These findings will improve our understanding of the postnatal development of interneurons and help to elucidate the mechanisms underlying seizure in patients carrying Foxg1 mutations.
|
29912324 |
2019 |
Seizures
|
0.450 |
GeneticVariation
|
phenotype |
BEFREE |
In addition to a FOXG1 mutation in a patient with all core features of the congenital variant of RTT, we identified a missense (p.Ser240Thr) in CDKL5 in a patient who appeared to be seizure free.
|
27062609 |
2017 |
Seizures
|
0.450 |
Biomarker
|
phenotype |
BEFREE |
All subjects with FOXG1-related disorders had neurodevelopmental disabilities after 3 years of age, regardless of the epilepsy type or intractability of seizures.
|
24836831 |
2014 |
Seizures
|
0.450 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in cyclin-dependent kinase like 5 (CDKL5) and FoxG1 genes have been identified in the early onset seizure and the congenital variants respectively.
|
23622176 |
2013 |
Seizures
|
0.450 |
GeneticVariation
|
phenotype |
BEFREE |
Mutations in the CDKL5 gene have been associated with the early-onset seizure variant of Rett syndrome and mutations in FOXG1 have been associated with the congenital Rett syndrome variant.
|
22968132 |
2013 |
Seizures
|
0.450 |
Biomarker
|
phenotype |
CTD_human |
FOXG1B (forkhead box G1B) is a very intriguing candidate gene since it is known to promote neuronal progenitor proliferation and to suppress premature neurogenesis and its disruption is reported in a patient with postnatal microcephaly, corpus callosum agenesis, seizures, and severe mental retardation.
|
18627055 |
2008 |
Seizures
|
0.450 |
Biomarker
|
phenotype |
HPO |
|
|
|