A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review
In the recent 3 years, subjects with Pumilio1-associated developmental disability, ataxia, and seizure syndrome have been identified as harboring Pumilio homolog 1 (PUM1) mutations. However, the characteristics of the seizure phenotype remain to be elucidated. We herein described a 3-year-old female...
Saved in:
Main Authors: | Yuanzhen Ye (Author), Zhanqi Hu (Author), Jiahui Mai (Author), Li Chen (Author), Dezhi Cao (Author), Jianxiang Liao (Author), Jing Duan (Author) |
---|---|
Format: | Book |
Published: |
Frontiers Media S.A.,
2022-03-01T00:00:00Z.
|
Subjects: | |
Online Access: | Connect to this object online. |
Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Pum Pum Rule Jamaican Dance: An Analytic Response to the Inability to Recognize Female Sovereignty in Dancehall
by: Leslie-Ann Fullerton
Published: (2015) -
Dravet syndrome
by: Incorpora Gemma
Published: (2009) -
Non-convulsive Status Epilepticus in SEMA6B-Related Progressive Myoclonic Epilepsy: A Case Report With Literature Review
by: Jing Duan, et al.
Published: (2022) -
Vaccinations and Dravet Syndrome
by: Christian M. Korff
Published: (2015) -
Phenotypes of Dravet Syndrome
by: Rebecca Garcia-Sosa, et al.
Published: (2016)