'It was the interneuron with the parvalbumin in the hippocampus!' 'No, it was the pyramidal cell with the glutamate in the cortex!' searching for clues to the mechanism of dravet syndrome - the plot thickens

摘要

Dravet syndrome (DS, also known as Severe Myoclonic Epilepsy of Infancy) is a catastrophic pediatric epileptic encephalopathy with cognitive, behavioral, and motor impairments, as well as a high risk of sudden unexpected death in epilepsy (SUDEP).The first mutations linked to DS were identified in SCN1A, the gene encoding the a subunit of the voltage-gated sodium channel Na_v1.1 (1). To date, the majority of DS patients have de novo SCN1A mutations that result in haploinsufficiency (2).This raises" some interesting questions: How does reduced expression of a major brain sodium channel gene result in hyperexcitability and network synchrony?