Jason Coryell

TL;DR: This work mapped a locus for infantile neuroaxonal dystrophy and neurodegeneration with brain iron accumulation to chromosome 22q12-q13 and identified mutations in PLA2G6, encoding a calcium-independent group VI phospholipase A2, in NBIA, INAD and the related Karak syndrome.

TL;DR: This study evaluates early and sustained response to initial treatments and addresses both clinical remission and electrographic resolution of hypsarrhythmia in infants with infantile spasms.

TL;DR: Thorough genetic investigation emphasizing sequencing tests should be incorporated into the initial evaluation of newly presenting early-life epilepsies and not just reserved for those with severe presentations and poor outcomes.

TL;DR: Adie's-like pupils, abnormal vertical saccades, and saccadic pursuits were very common in patients with PKAN, suggesting that mid-brain degeneration occurs in PKAN more frequently than previously thought.

TL;DR: These results provide the first functional evidence that de novo variants in the GABRA5 and GABra2 genes contribute to early-onset epilepsy and developmental delay, and demonstrate that epilepsy can result from reduced neuronal inhibition via a wide range of alterations in GABAA receptor function.