Monogenic epilepsies; genotype-phenotype correlations and precision therapy

Medicin og biovidenskab

• Genetic Association Studies 100%
• Epilepsy 79%
• Glycosylphosphatidylinositols 76%
• Seizures 54%
• Brain Diseases 44%
• Genetic Testing 30%
• Pyridoxal Phosphate 23%
• Pyridoxine 15%
• Therapeutics 15%
• Counseling 14%
• Phenotype 14%
• Partial Epilepsy 13%
• pyridoxine 5-phosphate 10%
• transamidases 10%
• Sudden Unexpected Death in Epilepsy 9%
• Compassionate Use Trials 8%
• phosphorylethanolamine 8%
• Generalized Epilepsy 7%
• Epileptic Syndromes 7%
• Vitamin B 6 7%
• Muscle Hypotonia 7%
• Glycolipids 7%
• Whole Exome Sequencing 6%
• Neurodevelopmental Disorders 6%
• Premature Mortality 6%
• Movement Disorders 6%
• Ecosystem 6%
• Neurogenesis 6%
• Live Birth 6%
• Transferases 6%
• Cardiomyopathies 5%
• Social Adjustment 5%
• Age of Onset 5%
• Intellectual Disability 5%
• Respiratory Insufficiency 5%
• Nervous System Diseases 5%
• Embryonic Development 5%
• Phospholipids 5%
• Tertiary Care Centers 5%
• Child 5%
• Electroencephalography 4%
• Single Nucleotide Polymorphism 4%
• Cognitive Dysfunction 4%
• Genes 4%
• Comorbidity 4%
• Psychiatry 4%
• Cohort Studies 4%
• Health Care Outcome Assessment 3%
• Recurrence 3%
• Mortality 2%
• Proteins 2%