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The orientation of human eyes is uniquely defined with respect to their gaze direction, known as Donders' law. Further, the manner in which the eyes follow Donders' law varies as a function of the situation. When the head is stationary, the Donders' surfaces are flat planes but they tilt when eye fixation distance changes. These planes also shift and rotate when head orientation changes with respect to the direction of gravito-inertial acceleration. When the head is free to rotate, the Donders' surfaces are twisted. In this paper, we present a systematic method to analyze the kinematics of the eye under different gaze situations utilizing the measurement of alignment between various coordinate frames. Kinematic equations are presented for various eye movements ranging from simple head-fixed monocular shifts of eye gaze to complex eye-head shifts of gaze. At each stage, we show that simulated eye orientations that derived from our equations are able to capture the variations of Donders' surfaces and they are comparable with experimental results in the literature. The final equations we propose provide the unified kinematics of head-upright far gaze, head-upright binocular fixation, head static tilted monocular gaze and head-free monocular gaze. [ABSTRACT FROM AUTHOR]

Pathogenic variants in AIMP1 gene are rare causes of neurologic disorders. Homozygous frameshift and nonsense variants in AIMP1 have been described in severe neurodegenerative disease. This is the third report of a homozygous nonsense variant in AIMP1 [c.115 C > T (p.Gln39*)] in a girl with severe neonatal onset epileptic encephalopathy. Like the two other cases reported, our patient is also of Filipino descent. Clinical features include microcephaly, poor visual motor development, shallow breathing, severe hypertonia in extremities, severe global developmental delay, poor gag and suck reflex, failure to thrive in the neonatal period, and early onset intractable seizures. Brain MRI showed hypoplasia of corpus callosum as well as cerebellar vermis, global volume loss and diminished myelination for her age. Electroencephalogram at four months of age showed background consisting of synchronous and asynchronous intervals of burst suppression with intermittent multifocal spikes predominantly in the bi-temporal region, suggestive of Early Onset Epileptic Encephalopathy with Burst Suppression (EOEE-BS) which has not been previously associated with the c.115 C > T variant in AIMP1. Of note, she presented to us in super refractory status epilepticus which was eventually controlled after administration of ketogenic diet and Epidiolex (cannabidiol). This report expands the genetic landscape of EOEE-BS. This is the first case of this specific variant in which Epidiolex was administered, which along with Ketogenic diet aided in controlling patient's super refractory status epilepticus. [ABSTRACT FROM AUTHOR]