Associated Papers
Clinical use of whole-genome sequencing in children with developmental delay or intellectual disability.
Xu J et al.
Bmc Medical Genomics, 2025
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
Enriching for Answers in Rare Diseases.
Fu Y et al.
Medrxiv : the Preprint Server for Health Sciences, 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
Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.
Malmgren H et al.
Frontiers in Genetics, 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
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
Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing.
Zhao X et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
A novel variant in YWHAG further supports phenotype of developmental and epileptic encephalopathy.
Sedláčková L et al.
American Journal of Medical Genetics. Part A, 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