Publications by authors named "I E Scheffer"
Background: Developmental and epileptic encephalopathies (DEE) are rare but severe neurodevelopmental disorders characterised by early-onset seizures often combined with developmental delay, behavioural and cognitive deficits. Treatment for DEEs is currently limited to seizure control and provides no benefits to the patients' developmental and cognitive outcomes. Genetic variants are the most common cause of DEE with KCNQ2 being one of the most frequently identified disease-causing genes.
View Article and Find Full Text PDFPathogenic variants in encoding Kv7.2 voltage-gated potassium channel subunits cause developmental encephalopathies (-encephalopathies), both with and without epilepsy. We herein describe the clinical, in vitro, and in silico features of two encephalopathy-causing variants (A317T, L318V) in Kv7.
View Article and Find Full Text PDFThis study evaluated food preferences and eating behaviors of individuals with Dravet syndrome. Patients diagnosed with Dravet syndrome were recruited, as well as a control group composed of siblings of patients with epilepsy (any form). The Food Preference Questionnaire and the Child Eating Behavior Questionnaire were completed by caregivers along with two open-ended questions regarding eating challenges.
View Article and Find Full Text PDFArticle Synopsis
- The study investigated how polygenic risk factors influence the severity and occurrence of epilepsy within families that have a known genetic cause, particularly focusing on families with genetic epilepsy with febrile seizures plus (GEFS+).
- Researchers analyzed data from 304 individuals, finding that a higher polygenic risk score (PRS) was linked to a greater likelihood of an epilepsy diagnosis and was associated with more severe epilepsy phenotypes.
- The results suggest that the genetic background can modify how rare pathogenic variants express themselves in terms of disease severity, highlighting the role of polygenic risk in understanding familial epilepsy.
Article Synopsis
- Pathogenic variants in the STXBP1 gene are linked to developmental and epileptic encephalopathy (DEE), often resulting in drug-resistant epilepsy and increased mortality risk, primarily from sudden unexpected death in epilepsy (SUDEP).
- A study analyzed data from 40 individuals with STXBP1 variants who died, revealing a mortality rate of 3.2% and median age of death at 13 years; the leading causes were SUDEP (36%) and respiratory complications (33%).
- Findings highlight the importance of understanding mortality risks in STXBP1-related disorders, aiding in prognostic evaluations, genetic counseling, and the development of preventative strategies for affected families.