1.
J Cent Nerv Syst Dis
; 15: 11795735231181467, 2023.
Artículo
en Inglés
| MEDLINE
| ID: mdl-37346291
RESUMEN
IRF2BPL gene variants have recently been associated to developmental disability and epilepsy in children and movement disorders in adults. So far, only few cases have been reported; here we present four novel cases identified by exome sequencing, while investigating developmental delay, adult-onset cerebellar ataxia or regression.