Damaging novel mutations in PIGN cause developmental epileptic-dyskinetic encephalopathy: a case report
Abstract Background Mutations in PIGN, resulting in a glycosylphosphatidylinositol (GPI) anchor deficiency, typically leads to multiple congenital anomalies-hypotonia-seizures syndrome. However, the link between PIGN and epilepsy or paroxysmal non-kinesigenic dyskinesia (PNKD) is not well-described....
Gardado en:
| Principais autores: | , , , , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BMC
2022-04-01
|
| Series: | BMC Pediatrics |
| Assuntos: | |
| Acceso en liña: | https://doi.org/10.1186/s12887-022-03246-w |
| Tags: |
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!
|