Birgit Jepsen

TL;DR: SCN8A encephalopathy presents in infancy with multiple seizure types including focal seizures and spasms in some cases, and outcome is often poor and includes hypotonia and movement disorders.

TL;DR: Both uncontrolled epilepsy and developmental compromise contribute to the profound impairment during early childhood, but stabilization occurs in late childhood, suggesting a global progressive brain dysfunction primarily affecting the temporo-occipital regions.

TL;DR: The genetic basis of a wide spectrum of epilepsies with age of onset spanning from the neonatal period to adulthood is analyzed, finding a disease-causing genetic variation in 23% of the analyzed patients.

TL;DR: The role of SLC2A1 mutations in absence epilepsy with early onset is confirmed and the notion that SLC1A1 aberrations are a cause of MAE without associated features such as movement disorders is failed to support.

TL;DR: The results illustrate that whole‐genome molecular cytogenetic analysis of phenotypically affected patients with abnormal conventional karyotypes may detect inapparent molecular cytogenic abnormalities in patients with microscopic chromosomal abnormalities and that these data provide additional information of clinical importance.