English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Tools annual

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools monthly

Global: Zendy Plus monthly

Presents the access of premium content as premium feature

Premium Content

Global: Zendy Plus annual

Global: Zendy Free Plan

Objective  The aim of this study was to analyze the phenotypic spectrum, treatment, and prognosis of 72 Chinese children with  SCN2A  variants.    Methods  The  SCN2A  variants were detected by next-generation sequencing. All patients were followed up at a pediatric neurology clinic in our hospital or by telephone.    Results  In 72 patients with  SCN2A  variants, the seizure onset age ranged from the first day of life to 2 years and 6 months. The epilepsy phenotypes included febrile seizures (plus) ( n  = 2), benign (familial) infantile epilepsy ( n  = 9), benign familial neonatal-infantile epilepsy ( n  = 3), benign neonatal epilepsy ( n  = 1), West syndrome ( n  = 16), Ohtahara syndrome ( n  = 15), epilepsy of infancy with migrating focal seizures ( n  = 2), Dravet syndrome ( n  = 1), early infantile epileptic encephalopathy ( n  = 15), and unclassifiable developmental and epileptic encephalopathy ( n  = 8). Approximately 79.2% (57/72) patients had varying degrees of developmental delay. All patients had abnormal MRI findings with developmental delay. 91.7% (55/60) patients with  de novo SCN2A  variants had development delay, while only 16.7% (2/12) patients with inherited  SCN2A  variants had abnormal development. 83.9% (26/31)  SCN2A  variants that were located in transmembrane regions of the protein were detected in patients with development delay. Approximately 69.2% (9/13)  SCN2A  variants detected in patients with normal development were located in the non-transmembrane regions. Approximately 54.2% (39/72) patients were seizure-free at a median age of 8 months. Oxcarbazepine has been used by 38 patients, and seizure-free was observed in 11 of them (11/38, 28.9%), while 6 patients had seizure worsening by oxcarbazepine. All 3 patients used oxcarbazepine and with seizure onset age &amp;gt; 1 year presented seizure exacerbation after taking oxcarbazepine. Valproate has been used by 53 patients, seizure-free was observed in 22.6% (12/53) of them.    Conclusion  The phenotypic spectrum of  SCN2A -related epilepsy was broad, ranging from benign epilepsy in neonate and infancy to severe epileptic encephalopathy. Oxcarbazepine and valproate were the most effective drugs in epilepsy patients with  SCN2A  variants. Sodium channel blockers often worsen seizures in patients with seizure onset beyond 1 year of age. Abnormal brain MRI findings and  de novo  variations were often related to poor prognosis. Most  SCN2A  variants located in transmembrane regions were related to patients with developmental delay.

SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis