Cortical Seizures in
Animals
Cerebral Cortex
/ metabolism
Disease Models, Animal
Disease Susceptibility
Epilepsy
/ genetics
Forkhead Transcription Factors
/ genetics
Gene Expression Regulation
Gene Regulatory Networks
Mice
Mice, Knockout
Nerve Tissue Proteins
/ genetics
Phenotype
Proto-Oncogene Proteins c-akt
/ metabolism
Ribosomal Protein S6 Kinases
/ metabolism
Seizures
Signal Transduction
Synaptic Potentials
Synaptic Transmission
Rett syndrome
electrophysiology
epilepsy
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
24 Aug 2019
24 Aug 2019
Historique:
received:
31
07
2019
accepted:
22
08
2019
entrez:
28
8
2019
pubmed:
28
8
2019
medline:
25
1
2020
Statut:
epublish
Résumé
The correct morphofunctional shaping of the cerebral cortex requires a continuous interaction between intrinsic (genes/molecules expressed within the tissue) and extrinsic (e.g., neural activity) factors at all developmental stages. Forkhead Box G1 (FOXG1) is an evolutionarily conserved transcription factor, essential for the cerebral cortex patterning and layering. FOXG1-related disorders, including the congenital form of Rett syndrome, can be caused by deletions, intragenic mutations or duplications. These genetic alterations are associated with a complex phenotypic spectrum, spanning from intellectual disability, microcephaly, to autistic features, and epilepsy. We investigated the functional correlates of dysregulated gene expression by performing electrophysiological assays on
Identifiants
pubmed: 31450553
pii: ijms20174127
doi: 10.3390/ijms20174127
pmc: PMC6747530
pii:
doi:
Substances chimiques
Forkhead Transcription Factors
0
Foxg1 protein, mouse
0
Nerve Tissue Proteins
0
Proto-Oncogene Proteins c-akt
EC 2.7.11.1
Ribosomal Protein S6 Kinases
EC 2.7.11.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Associazione Italiana per la Ricerca sul Cancro
ID : IG 2016-18925
Organisme : Fondazione Pisa
ID : NanoBioMarker 2016
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