Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders an...
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy
About this item
Full title
Author / Creator
Sicca, Federico , Ambrosini, Elena , Marchese, Maria , Sforna, Luigi , Servettini, Ilenio , Valvo, Giulia , Brignone, Maria Stefania , Lanciotti, Angela , Moro, Francesca , Grottesi, Alessandro , Catacuzzeno, Luigi , Baldini, Sara , Hasan, Sonia , D’Adamo, Maria Cristina , Franciolini, Fabio , Molinari, Paola , Santorelli, Filippo M. and Pessia, Mauro
Publisher
London: Nature Publishing Group UK
Journal title
Language
English
Formats
Publication information
Publisher
London: Nature Publishing Group UK
Subjects
More information
Scope and Contents
Contents
Dysfunction of the inwardly-rectifying potassium channels Kir4.1 (
KCNJ10
) represents a pathogenic mechanism contributing to Autism-Epilepsy comorbidity. To define the role of Kir4.1 variants in the disorder, we sequenced
KCNJ10
in a sample of affected individuals and performed genotype-phenotype correlations. The effects of mutations...
Alternative Titles
Full title
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy
Authors, Artists and Contributors
Author / Creator
Ambrosini, Elena
Marchese, Maria
Sforna, Luigi
Servettini, Ilenio
Valvo, Giulia
Brignone, Maria Stefania
Lanciotti, Angela
Moro, Francesca
Grottesi, Alessandro
Catacuzzeno, Luigi
Baldini, Sara
Hasan, Sonia
D’Adamo, Maria Cristina
Franciolini, Fabio
Molinari, Paola
Santorelli, Filippo M.
Pessia, Mauro
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5039625
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5039625
Other Identifiers
ISSN
2045-2322
E-ISSN
2045-2322
DOI
10.1038/srep34325
