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Successful Adaptation of Targeted Gene Panel Next-Generation Sequencing in Regional Hospital in Hong Kong: Genomic Diagnosis of SCN2A-Related Seizure Disorder

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Author:
No author available
Journal Title:
Chinese Medical Journal
Issue:
18
DOI:
10.4103/0366-6999.240812
Key Word:
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Abstract: To the Editor:To date,epilepsy is one of the most common neurological disorders globally,affecting more than 50 million people worldwide.It is debilitating and represents a large health-care and economic burden,especially when treatment may often be expensive and not necessarily effective.It has been suggested that the burden of lifetime epilepsy has been significantly increasing in China in recent decades,[1] The International League Against Epilepsy has defined epilepsy in 2014 as a neurological disorder with at least two unprovoked seizures occurring more than 24 h apart,one unprovoked seizure and a high probability of further seizures,or diagnosis of an epilepsy syndrome.

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