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JNNP: Investigation of the application status of precision medicine in hereditary epilepsy

 Last Update: 2021-05-08
 Source: Internet
 Author: User

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The term " Precision Medicine" (PM) describes a reasonable treatment strategy for a person that can change the pathophysiology of the disease.

Precision medsci.

This study is an unblinded, retrospective observational study, not a trial (randomized control or other): therefore, the genetic testing centers, cases, and time are all different.

Algorithms for clinical management and results after the discovery of genetic causes

management

Successful treatment is defined as a >50% reduction in the frequency of seizures.

Child diagnosis

Genetic abnormalities that cause epilepsy include SNV (n=248, 85%) chromosome imbalance (n=21, 7%), CNV (n=17, 6%), repeat amplification (n=5, 2%), SNV Add CNV (n=2, 1%).

Other factors that may contribute to clinical improvement after genetic diagnosis include improvement in other aspects besides seizures, such as cognitive ability, and further diagnostic evaluation can be arranged.

BalestriniS ,ChiarelloD ,GogouM BalestriniSBalestrini ChiarelloDChiarello GogouMGogou, et Albmj.
com/content/early/2021/04/25/jnnp-2020-325932" target="_blank" rel="noopener">Real-Life Survey of SUCCESSES and Pitfalls in Genetic Medicine Precision of epilepsiesJournal of.
Neurology, Neurosurgery & PsychiatryPublished Online First:26 is April 2021.
Published Online First: doi:10.
1136/jnnp-2020-325932doi:leave a message here

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