The genetic and phenotypic spectrum of GABRB1-related disorders

Keyphrases

• Related Disorders 100%
• Gain-of-function Variants 100%
• Phenotypic Spectrum 100%
• Gain-of-function mutation 66%
• GABAA Receptor (GABAAR) 50%
• Missense Variant 50%
• Treatment Response 33%
• Functional Analysis 33%
• Seizure 33%
• Loss Function 33%
• Vigabatrin 33%
• GABAergic Neurons 33%
• Function Effect 33%
• Treatment Strategy 16%
• Receptor 1 16%
• Adverse Effects 16%
• Lamotrigine 16%
• Life-threatening 16%
• Clinical Data 16%
• International Collaboration 16%
• Clinical Information 16%
• Inpatient Treatment 16%
• Clinical Predictors 16%
• Functional Characterization 16%
• Genetic Epilepsy 16%
• Gain-of-function 16%
• Genotype-phenotype Correlation 16%
• Hypotonia 16%
• Levetiracetam 16%
• Valproate 16%
• Functional Consequences 16%
• GABAA Receptor Subunits 16%
• Missense 16%
• Therapy-resistant 16%
• Xenopus Oocytes 16%
• Early Disease 16%
• Cortical Atrophy 16%
• Data Integration 16%
• Early Mortality 16%
• Nuclear Family 16%
• Dysmorphism 16%
• Cerebral Visual Impairment 16%
• Indel 16%
• Genetic Epilepsy with Febrile Seizures Plus (GEFS+) 16%
• Antiseizure Medication 16%
• Pathogenic Variants 16%
• Functional Effects 16%
• Sodium Channel Blockers 16%
• Severe Intellectual Disability 16%

Biochemistry, Genetics and Molecular Biology

• Genetics 100%
• Missense 80%
• GABAA Receptor 80%
• Prospective Study 20%
• Sodium Channel Blocker 20%
• Intellectual Disability 20%
• Voltage Clamp 20%
• Xenopus laevis 20%
• Indel 20%
• Gamma-Aminobutyric Acid 20%
• Genotype-Phenotype Correlation 20%