Publications by authors named "P B Augustijn"
Article Synopsis
- The study focuses on Kv3.2, a potassium channel crucial for high-frequency brain firing and efficient action potential generation, examining its genetic variations linked to epilepsy.
- Researchers analyzed clinical data and functional characteristics of Kv3.2 variants found in patients with different types of epilepsy, including cases like genetic generalized epilepsy and severe developmental epilepsy.
- Results revealed that out of 18 identified variants, 10 were new and linked to severe epilepsy forms, leading to significant insights about Kv3.2's involvement in epilepsy and its role in regulating brain activity.
Background: Acquired visual agnosia in the context of continuous spikes and waves during slow sleep (CSWS) is rarely described. We present a case of an almost 7-year-old boy who lost his ability to name pictures and recognize familiar faces. Initial encephalography (EEG) revealed sleep induced epileptiform activity with a spike-wave index (SWI) of 100%, predominanting in the left posterior head region.
View Article and Find Full Text PDFPathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances. Only heterozygous females and mosaic males are affected, likely due to a disease mechanism named cellular interference. Until now, only four affected mosaic male patients have been described in literature.
View Article and Find Full Text PDFObjective: To study the effect of vaccination-associated seizure onset on disease course and estimate the risk of subsequent seizures after infant pertussis combination and measles, mumps, and rubella (MMR) vaccinations in Dravet syndrome (DS).
Methods: We retrospectively analyzed data from hospital medical files, child health clinics, and the vaccination register for children with DS and pathogenic SCN1A mutations. Seizures within 24 hours after infant whole-cell, acellular, or nonpertussis combination vaccination or within 5 to 12 days after MMR vaccination were defined as "vaccination-associated.
Objective: To study the pattern of cognitive development in relation to duration of epilepsy.
Methods: Participants were 113 children with epilepsy referred because of concerns about their cognitive development and tested at least twice at tertiary epilepsy settings. Verbal, Performance, and Full Scale IQ were measured with Wechsler Intelligence Scales.