<scp><i>PACS2</i></scp> pathogenic variant associated with malformation of cortical development and epilepsy-Reference-Cited by-同舟云学术

PACS2 pathogenic variant associated with malformation of cortical development and epilepsy

Published:2023-12-15 Issue: Volume: Page:
ISSN:1294-9361
Container-title:Epileptic Disorders
language:en
Short-container-title:Epileptic Disorders

Author:

Checri Rayann¹,Dozières‐Puyravel Blandine¹^ORCID,Elmaleh‐Bergès Monique²,Verloes Alain³,Auvin Stéphane¹⁴⁵^ORCID

Affiliation:

1. Pediatric Neurology Department, CRMR épilepsies rares, EpiCARE Member AP‐HP, Robert‐Debré University Hospital Paris France

2. Radiology Department AP‐HP, Robert‐Debré University Hospital Paris France

3. Medical Genetics Department, ITHACA ERN Member AP‐HP, Robert‐Debré University Hospital Paris France

4. INSERM NeuroDiderot Université Paris Cité Paris France

5. Institut Universitaire de France (IUF) Paris France

Abstract

AbstractPACS2 pathogenic variants are associated with an autosomal dominant syndrome (OMIM DEE66), associating developmental and epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis. However, no malformation of cortical development has been reported yet. We report here a seven‐year‐old child with a history of infantile epileptic spasm syndrome and a right insular polymicrogyria and pachygyria due to de novo PACS2 recurrent mutation c.625G>A (p.Glu209Lys). Our observation raises the question of the role of PACS2 in the cortical development. It also reminds the importance of cerebellar anomalies in the recognition of PACS‐related DEE.

Publisher

Wiley

Subject

Neurology (clinical),Neurology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/epd2.20184

Reference10 articles.

1. A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

2. Radiprodil, a NR2B negative allosteric modulator, from bench to bedside in infantile spasm syndrome

3. First reported case of an inherited PACS2 pathogenic variant with variable expression

4. Clinical variations of epileptic syndrome associated with PACS2 variant

5. A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Levetiracetam;Reactions Weekly;2024-09-07

2. Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant—Our Experience and Systematic Review of the Literature;Biomolecules;2024-02-23