INVESTIGATION OF MOLECULAR GENETIC CAUSES OF EPILEPTIC ENCEPHALOPATHIES, NEURODEGENERATIVE DISEASES AND COMPLEX NEUROLOGICAL PHENOTYPES IN CHILDREN IN THE TURKESTAN REGION
11045 3820 11046 11047 11048 11049 11050 11051 6 2024 10.34689/SH.2024.26.6.012 Introduction. Hard-to-diagnose neurological disorders in children, including epileptic encephalopathies (EE), neurodegenerative diseases (NDD), and complex neurological phenotypes (CNP), are characterized by high genetic heterogeneity and clinical polymorphism. Deep phenotyping combined with exome sequencing can improve diagnostic accuracy and the identification of the molecular-genetic causes of these pathologies...
Изменен: 30.12.2024Путь: Главная / Home / Publications
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