The Bright Side of the Spectrum: Self-Limited Infantile Epilepsy-Related SCN8A Gof Variant - PubMed
4 hours ago
- #SCN8A
- #genetics
- #epilepsy
- SCN8A gene gain-of-function variants can cause a spectrum of disorders including epilepsy and autism.
- A case of self-limited infantile epilepsy (SeLIE) was linked to an SCN8A gain-of-function variant.
- Bioinformatic tools help assess variant impact and guide treatment decisions, such as carbamazepine use.