Clinical and molecular characterization of patients with YWHAG-related epilepsy

Keyphrases

• Epilepsy 100%
• Molecular Characterization 100%
• Clinical Characterization 100%
• Developmental and Epileptic Encephalopathy 66%
• Genotype-phenotype Correlation 33%
• Mild Developmental Delay 33%
• Missense Variant 33%
• Electroencephalography 16%
• Large Cohort 16%
• Clinical Presentation 16%
• Clinical Management 16%
• Behavioral Disorders 16%
• Rare Diseases 16%
• Epilepsy Onset 16%
• Seizure Freedom 16%
• Variant Allele 16%
• Genetic Counseling 16%
• Neurological Signs 16%
• Ligand-binding Domain 16%
• Myoclonic Seizures 16%
• Brain Magnetic Resonance Imaging 16%
• Dysmorphism 16%
• Facial Dysmorphism 16%
• Variable Severity 16%
• Clinical Genetics 16%
• Related Disorders 16%
• Truncating Variant 16%
• Prognostic Information 16%
• Disease Features 16%
• Intellectual Developmental Disorder 16%
• Phenotypic Spectrum 16%
• Pathogenic Variants 16%

Biochemistry, Genetics and Molecular Biology

• Missense 100%
• Intellectual Disability 100%
• Genotype-Phenotype Correlation 100%
• Allele 50%
• Genetic Counseling 50%
• Molecular Genetics 50%
• Ligand Binding Domain 50%
• Magnetic Resonance Imaging 50%
• Cognition 50%

Neuroscience

• Brain Disease 100%
• Epilepsy 100%
• Intellectual Disability 50%
• Genetics 50%
• Magnetic Resonance Imaging 25%
• Behavior Disorder 25%
• Ligand Binding 25%
• Myoclonic Seizure 25%