A novel pathogenic SLC12A5 missense variant in epilepsy of infancy with migrating focal seizures causes impaired KCC2 chloride extrusion
Year of publication
2024
Authors
Järvelä V; Hamze M; Komulainen-Ebrahim J; Rahikkala E; Piispala J; Kallio M; Kangas SM; Nickl T; Huttula M; Hinttala R; Uusimaa J; Medina I; Immonen E
Organizations and authors
Oulu University Hospital Catchment Area
Rahikkala Elisa
Uusimaa Johanna
Komulainen-Ebrahim Jonna
Hinttala Reetta
Kangas Salla
Piispala Johanna
Kallio Mika
Publication type
Publication format
Article
Parent publication type
Journal
Article type
Original article
Audience
ScientificPeer-reviewed
Peer-ReviewedMINEDU's publication type classification code
A1 Journal article (refereed), original researchPublication channel information
Volume
17
Pages
1372662
ISSN
Publication forum
Publication forum level
1
Open access
Open access in the publisher’s service
No
Self-archived
No
Other information
Fields of science
Neurology and psychiatry
Internationality of the publisher
International
International co-publication
Yes
Co-publication with a company
No
The publication is included in the Ministry of Education and Culture’s Publication data collection
Yes