Mutations of the DNA repair gene PNKP in a patient with microcephaly, seizures, and developmental delay (MCSZ) presenting with a high-grade brain tumor.

Polynucleotide Kinase-Phosphatase (PNKP) is a bifunctional enzyme that possesses both DNA 3'-phosphatase and DNA 5'-kinase activities, which are required for processing termini of single- and double-strand breaks generated by reactive oxygen species (ROS), ionizing radiation and topoisomerase I poisons. Even though PNKP is central to DNA repair, there have been no reports linking PNKP mutations in a Microcephaly, Seizures, and Developmental Delay (MSCZ) patient to cancer. Here, we characterized the biochemical significance of 2 germ-line point mutations in the PNKP gene of a 3-year old male with MSCZ who presented with a high-grade brain tumor (glioblastoma multiforme) within the cerebellum.

Differentiation of epileptic regions from voluntary high-gamma activation via interictal cross-frequency windowed power-power correlation.

Objective: Electrocorticography is an indispensable tool in identifying the epileptogenic zone in the presurgical evaluation of many epilepsy patients. Traditional electrocorticographic features (spikes, ictal onset changes, and recently high-frequency oscillations [HFOs]) rely on the presence of transient features that occur within or near epileptogenic cortex. Here the authors report on a novel corticography feature of epileptogenic cortex-covariation of high-gamma and beta frequency band power profiles.

Sequential activation of premotor, primary somatosensory and primary motor areas in humans during cued finger movements.

Objective: Human voluntary movements are a final product of complex interactions between multiple sensory, cognitive and motor areas of central nervous system. The objective was to investigate temporal sequence of activation of premotor (PM), primary motor (M1) and somatosensory (S1) areas during cued finger movements.

Methods: Electrocorticography (ECoG) was used to measure activation timing in human PM, S1, and M1 neurons in preparation for finger movements in 5 subjects with subdural grids for seizure localization.

A new fiber-mediated carbon dioxide laser facilitates pediatric spinal cord detethering. Technical note.

Object: The authors report their experience with a novel flexible fiber capable of transmitting CO(2) laser energy during spinal cord tumor resection and detethering.

Methods: A fiber optic system capable of transmitting CO(2) laser energy was used in the detethering of the spinal cord in 3 cases. The first case involved a 9-year-old girl with a terminal lipoma.