Triplication of the Gene as a Novel Disease Mechanism Leading to Epileptic Encephalopathy Resembling Loss-of-Function Pathogenic Variants.

Background/objectives: Developmental and epileptic encephalopathy 9 (DEE9) (MIM #300088) affects heterozygous females and males with somatic pathogenic variants, while male carriers with hemizygous pathogenic variants are clinically unaffected. There are hundreds of pathogenic single nucleotide variants in the gene reported in the literature, which lead to the loss of function of the PCDH19 protein. To date, no phenotypes associated with overexpression or copy number gains have been described in this gene.

Assessing the reliability of a digital inclinometer app for measuring hip, knee, and ankle proprioception.

Proprioception can be defined as the ability of an individual to detect motion and position of the various joints in their bodies. Current tools for measuring proprioception lack consensus on their accuracy and validity; they also each have their own limitations, and, furthermore, present barriers to use for clinicians. We propose a new and reliable method for evaluating hip, knee, and ankle proprioception by utilizing a digital inclinometer app to measure joint position sense.

The association between passenger-vehicle front-end profiles and pedestrian injury severity in motor vehicle crashes.

Introduction: Vehicles play an important role in pedestrian injury risk in crashes. This study examined the association between vehicle front-end geometry and the risk of fatal pedestrian injuries in motor vehicle crashes.

Method: A total of 17,897 police-reported crashes involving a single passenger vehicle and a single pedestrian in seven states were used in the analysis.

New variants expand the neurological phenotype of COQ7 deficiency.

The protein encoded by COQ7 is required for CoQ synthesis in humans, hydroxylating 3-demethoxyubiquinol (DMQ) in the second to last steps of the pathway. COQ7 mutations lead to a primary CoQ deficiency syndrome associated with a pleiotropic neurological disorder. This study shows the clinical, physiological, and molecular characterization of four new cases of CoQ primary deficiency caused by five mutations in COQ7, three of which have not yet been described, inducing mitochondrial dysfunction in all patients.