A rare case of Yhwag gene mutation causing developmental and epileptic encephalopathy
oleh: Karina Lidia Gheorghita, A.V. Ciurea, R.E. Rizea
| Format: | Article |
|---|---|
| Diterbitkan: | London Academic Publishing 2023-09-01 |
Deskripsi
Background: epileptic encephalopathy 56 or DEE is a rare disease characterized by early-onset treatment-refractory epilepsy accompanied by global developmental regression that has been shown to be caused by various mutations of the YWHAG gene. Case presentation: We report a novel of a heterozygous mutation of YHWAG c.170G>A, p.(Arg57His), in a Caucasian male. Conclusions: Our report further confirms that mutation of YWHAG results in developmental and epileptic encephalopathy.