De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years.
Sign Up to like & getrecommendations! Published in 2019 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2019.01.015
Abstract: We set out to investigate whether a de-novo paradigm could explain genetic causes of chronic ultra-refractory epilepsy, with onset later than the typical age for the epileptic encephalopathies. We performed exome sequencing on nine adult… read more here.
Keywords: epilepsy; refractory epilepsy; chronic ultra; novo mutations ... See more keywords
Adjunctive cenobamate in highly active and ultra‐refractory focal epilepsy: A “real‐world” retrospective study
Sign Up to like & getrecommendations! Published in 2023 at "Epilepsia"
DOI: 10.1111/epi.17549
Abstract: Recent clinical trials have shown that cenobamate substantially improves seizure control in focal‐onset drug‐resistant epilepsy (DRE). However, little is known about cenobamate's performance in highly active (≥20 seizures/month) and ultra‐refractory focal epilepsy (≥6 failed epilepsy… read more here.
Keywords: ultra refractory; highly active; refractory focal; focal epilepsy ... See more keywords