De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.

Objective: To determine the cause and course of a novel syndrome with progressive encephalopathy and brain atrophy in children.

Methods: Clinical whole-exome sequencing was performed for global developmental delay and intellectual disability; some patients also had spastic paraparesis and evidence of clinical regression. Six patients were identified with de novo missense mutations in the kinesin gene KIF1A.

De novo mutations in epileptic encephalopathies.

Epileptic encephalopathies are a devastating group of severe childhood epilepsy disorders for which the cause is often unknown. Here we report a screen for de novo mutations in patients with two classical epileptic encephalopathies: infantile spasms (n = 149) and Lennox-Gastaut syndrome (n = 115). We sequenced the exomes of 264 probands, and their parents, and confirmed 329 de novo mutations.

Outcomes analysis after routine removal of implants in healthy pediatric patients.

Routine removal of nonspinal, orthopedic implants from pediatric patients is a debated practice. The purpose of this study was to compare preremoval and postremoval outcome measures in children. Twenty-five patients, mean age 11.