Michael F. Hammer

The paper maps molecular features of SCN8A variants to clinical outcomes and treatment response in SCN8A-related disorders, identifying regions and features associated with phenotypic variability.

The paper identifies a de novo frameshift variant that rescues a Gain-of-function SCN8A epilepsy phenotype by reducing NaV1.6 expression within a therapeutic window.

The paper identifies opposing transcriptional programs in SCN8A-related epilepsy, showing distinct cellular responses to gain- and loss-of-function mutations and suggesting therapeutic strategies.

This study identifies splice-switching antisense oligonucleotides that correct splicing defects in SCN8A, reducing seizures and improving survival in a mouse model of genetic epilepsy.

This study surveys caregivers of SCN8A-DEE patients to describe clinical features and treatment challenges, finding high seizure burden, multiple comorbidities, and limited effective therapies.

The paper uses Approximate Bayesian Computation to infer demographic history of Ashkenazi Jews, finding population differentiation between Eastern and Western groups ~400 years ago due to differing growth rates.