SummaryShort summary of a recent publication, written by scientific experts.
Published: 03 Apr 2023
Unraveling the phenotypic spectrum of genetic developmental and epileptic encephalopathies
Developmental and epileptic encephalopathies (DEE) span a heterogeneous group of phenotypic epileptic genes (SCN1A, SCN2A, SCN8A, SYNGAP1, NEXMIF, CHD2, PCDH19, STXBP1, GRIN2A, KCNT1, KCNQ2 and Angelman syndrome [AS] genes).
In a cohort of 510 individuals, DEE genes associated with convulsive status epilepticus (CSE) were SCN1A, KCNT1, and SCN2A. Non-convulsive status epilepticus (NCSE) was found in patients with non-Dravet SCN1A-DEEs, and also in patients with CHD2-DEEs and AS. Sudden unexplained death in epilepsy (SUDEP) was associated with SCN1A, SCN2A, SCN8A, and STXBP1. Of the 8% (42/510) of deaths recorded amongst the cohort, 20 of the 42 cases were attributed to SUDEP, reaching a SUDEP rate of 2.9 per 1,000 person years.
Understanding the risks of genetic DEE associated with CSE, NCSE and SUDEP is important in order to develop appropriate strategies for early diagnosis, management and treatment.