Genetic Testing And Counseling And Child Neurology

NEUROLOGIC CLINICS(2021)

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摘要
Advances in genetic technology have decreased the cost and increased the accessibility of genetic testing, and introduced new therapeutic options for many genetic conditions. With new treatments available for previously untreatable neurogenetic conditions, identifying a genetic diagnosis has become of great importance. This article provides a review of basic genetic concepts, ethical and counseling considerations with genetic testing, and genetic testing strategies, and highlights a series of clinical care pearls.
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关键词
Genetic counseling, Epigenetic modifiers- downstream effect on genes and proteins, Channelopathies- epilepsy, movement disorders, neuromuscular, Structural proteins- muscle, synapses, neurodevelopment, Enzymes- metabolic disorders, cell function
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