Associated Papers
Transforming refractory epilepsy management: Trio-WES for enhanced genetic diagnosis and prognosis in children.
Chen Y et al.
Seizure, 2025
Understanding PACS2 syndrome's pathomechanism by studying E209K and E211K mutations.
Zbikowski A et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2025
Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant-Our Experience and Systematic Review of the Literature.
Stoian A et al.
Biomolecules, 2024
PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes.
Zhang H et al.
World Journal of Pediatrics : Wjp, 2024
Genome-wide kinase-MAM interactome screening reveals the role of CK2A1 in MAM Ca2+ dynamics linked to DEE66.
Thi My Nhung T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Long-Term Outcome of Neonatal Seizure with PACS2 Mutation: Case Series and Literature Review.
Chou IJ et al.
Children (basel, Switzerland), 2023
First reported case of an inherited PACS2 pathogenic variant with variable expression
Cesaroni E et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2022
Vein of Galen aneurysm, dilated cardiomyopathy, and slender habitus in a patient with a recurrent pathogenic variant in PACS2.
Valenzuela I et al.
American Journal of Medical Genetics. Part A, 2022
[Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].
Wu MJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2021
Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.
Sakaguchi Y et al.
American Journal of Medical Genetics. Part A, 2021
Clinical variations of epileptic syndrome associated with PACS2 variant.
Mizuno T et al.
Brain & Development, 2021
Chromosome 14 deletions, rings, and epilepsy genes: A riddle wrapped in a mystery inside an enigma.
Vaisfeld A et al.
Epilepsia, 2021
A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome.
Terrone G et al.
Seizure, 2020
Expanding the clinical spectrum associated with PACS2 mutations.
Dentici ML et al.
Clinical Genetics, 2019
A missense variant in the PACS2 gene cause Epileptic Encephalopathy and seizures in Saudi family.
Haque A et al.
Pakistan Journal of Medical Sciences, 0
Not So Rare: Diseases Based on Mutant Proteins Controlling Endoplasmic Reticulum-Mitochondria Contact (MERC) Tethering.
Makio T et al.
Contact (thousand Oaks (ventura County, Calif.)), 0