Genetics
The critical role the NaV1.2 sodium channel plays in nervous system function is demonstrated by the breadth of severe phenotypes associated with pathogenic variants in the SCN2A gene.
Genetics
A summary of functional mechanisms underlying different phenotypes of patients with SCN2A channelopathies and available models that can help in understanding SCN2A-related disorders.
Pediatric Epilepsy
A review of treatment efficacy for Dravet syndrome.
In China, it is estimated that there are approximately 9 million patients with epilepsy, approximately 60% of whom are affected by partial-onset seizures.
Data shows that abnormal electrical pulses from specific brain cells in these patients are associated with a temporary kind of memory disruption called transient cognitive impairment.
Social functioning significantly improved in people with epilepsy after surgery as quality of life, but it took more time to exhibit improvement.
Pediatric Epilepsy
A new study published in Nature Communications on a rare genetic disease provides insights into autism, epilepsy and cognitive impairment.
Genetics, Pediatric Epilepsy
This paper provides a comprehensive phenotypic and genetic analysis of individuals with STXBP1 pathogenic variants.
This study recommends implementing longitudinal mental healthcare with a diagnosis of PNES. Furthermore, the findings highlight the importance of conducting further research on school-based stress reduction for children in whom school attendance is a PNES trigger.
