Severe neonatal epilepsy linked to a novel homozygous SLC12A5 Arg508Cys variant with impaired chloride transport
| dc.contributor.author | Ghalamkari, Safoura | |
| dc.contributor.author | Jӓrvelӓ, Viivi | |
| dc.contributor.author | Hartmann, Anna-Maria | |
| dc.contributor.author | Merő, Gabriella | |
| dc.contributor.author | Hudák, Renáta | |
| dc.contributor.author | Mótyán, János András | |
| dc.contributor.author | Szakszon, Katalin | |
| dc.contributor.author | Huttula, Marko | |
| dc.contributor.author | Uusimaa, Johanna | |
| dc.contributor.author | Immonen, Esa-Ville | |
| dc.contributor.author | Medina, Igor | |
| dc.contributor.author | Balogh, István | |
| dc.date.accessioned | 2026-10-07T12:35:05Z | |
| dc.date.available | 2026-10-07T12:35:05Z | |
| dc.date.issued | 2026 | |
| dc.date.oa | 2026-10-12 | |
| dc.date.pasync | 2026-10-12T23:07:53Z | |
| dc.date.updated | 2026-10-07T12:35:05Z | |
| dc.description.corrector | bkata | |
| dc.identifier.citation | Experimental Neurology. -404 : (2026), p. 1-14. -(cikkazonosító)115882. -Exp. Neurol. - 0014-4886 | |
| dc.identifier.doi | https://dx.doi.org/10.1016/j.expneurol.2026.115882 | |
| dc.identifier.issn | 0014-4886 | |
| dc.identifier.opac | https://ebib.lib.unideb.hu/ebib/CorvinaWeb?action=cclfind&resultview=long&ccltext=idno+BIBFORM140085 | |
| dc.identifier.scopus | 105042537101 | |
| dc.identifier.uri | https://hdl.handle.net/2437/415609 | |
| dc.identifier.url | https://linkinghub.elsevier.com/retrieve/pii/S0014488626002475 | |
| dc.identifier.wos | 001807858900001 | |
| dc.language | eng | |
| dc.rights.access | open access article | |
| dc.rights.owner | szerző | |
| dc.subject.mab | Orvostudományok | |
| dc.subject.mab | Klinikai orvostudományok | |
| dc.tender | Egyéb K56772 | |
| dc.title | Severe neonatal epilepsy linked to a novel homozygous SLC12A5 Arg508Cys variant with impaired chloride transport | |
| dc.type | folyóiratcikk | |
| dc.type | idegen nyelvű folyóiratközlemény külföldi lapban |
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