Associated Papers
The phenotypic spectrum of YWHAG-related epilepsy: From mild febrile seizures to severe developmental delay and epileptic encephalopathy.
Tan Q et al.
Developmental Medicine and Child Neurology, 2025
A Personalized 14-3-3 Disease-Targeting Workflow Yields Repositioning Drug Candidates.
Larasati YA et al.
Cells, 2025
A Novel YWHAG Variant L173S Causes Developmental and Epileptic Encephalopathy by Disrupting the Hydrophobic Internal Protein Structure.
Jin Y et al.
Molecular Genetics & Genomic Medicine, 2025
Role of the YWHAG gene mutations in Developmental and Epileptic Encephalopathy.
Vilmont V et al.
Frontiers in Neuroscience, 2025
Developmental and epileptic encephalopathy 56 due to YWHAG variants: 12 new cases and review of the literature.
Amato ME et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
Clinical and molecular characterization of patients with YWHAG-related epilepsy.
Cetica V et al.
Epilepsia, 2024
Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.
Halfmeyer I et al.
Genes, 2022
A heterozygous missense variant in the YWHAG gene causing developmental and epileptic encephalopathy 56 in a Chinese family.
Yi Z et al.
Bmc Medical Genomics, 2022
A Multi-Disciplinary Team Approach to Genomic Testing for Drug-Resistant Epilepsy Patients-The GENIE Study.
Vadlamudi L et al.
Journal of Clinical Medicine, 2022
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Genetic diagnosis of infantile-onset epilepsy in the clinic: Application of whole-exome sequencing following epilepsy gene panel testing.
Kim SY et al.
Clinical Genetics, 2021
Epilepsy and electroencephalogram evolution in YWHAG gene mutation: A new phenotype and review of the literature.
Stern T et al.
American Journal of Medical Genetics. Part A, 2021
YWHAG Mutations Cause Childhood Myoclonic Epilepsy and Febrile Seizures: Molecular Sub-regional Effect and Mechanism.
Ye XG et al.
Frontiers in Genetics, 2021
Expanding the genotype-phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
Kanani F et al.
American Journal of Medical Genetics. Part A, 2020
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
Guella I et al.
American Journal of Human Genetics, 2017