Thomas Dorn

TL;DR: Clinical and experimental data suggest a correlation between age at disease onset, response to sodium channel blockers and the functional properties of mutations in children with SCN2A-related epilepsy, and suggest that mutations associated with early infantile epilepsy result in increased sodium channel activity with gain-of-function.

TL;DR: Epilepsies have a highly heterogeneous background with a strong genetic contribution and the variety of unspecific and overlapping syndromic and nonsyndromic phenotypes often hampers a clear clinical diagnosis and prevents straightforward genetic testing.

TL;DR: Genome-wide screens to identify copy number variation in patients with a diverse spectrum of epilepsy syndromes and in neurologically-normal controls implicate 16p13.11 and possibly other large deletions as risk factors for a wide range of epilepsy disorders, and they appear to point toward haploinsufficiency as a contributor to the pathogenicity of deletions.

TL;DR: Next-generation sequencing results establish KCNA2 as a new gene involved in human neurodevelopmental disorders through two different mechanisms, predicting either hyperexcitability or electrical silencing of KV1.2-expressing neurons.

TL;DR: The results thus implicate STX1B and the presynaptic release machinery in fever-associated epilepsy syndromes.