William Gallentine

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: In this paper, the role of 16p13.11 deletions, as well as other structural variation, in epilepsy disorders, was evaluated using genome-wide screens to identify copy number variation in 3812 patients with a diverse spectrum of epilepsy syndromes and in 1299 neurologically normal controls.

TL;DR: Electrographic status epilepticus occurs in more than one-third of children with electrographic seizures and is associated with higher in-hospital mortality, particularly those with specific risk factors.

TL;DR: It is shown that, at best, common genetic variation can only have a modest role in predisposition to the partial epilepsies when considered across syndromes in Europeans, and research efforts should also be directed towards identifying the multiple rare variants likely to account for at least part of the heritability of the partial seizures.

TL;DR: Dosing AE is based on the combination of a clinical history consistent with pediatric AE and supportive diagnostic testing, which includes but is not dependent on antibody testing.