Information concerning the distribution of different genetic causes of PMEs may provide a framework for an updated diagnostic workup. Phenotypes of the patients with PME of undetermined cause varied widely. The presence of separate clusters suggests that novel forms of PME are yet to be clinically and genetically characterized.

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Patients with Unverricht-Lundborg disease (ULD) and Lafora body disease (LBD) have different electrophysiologic profiles. The ULD findings point to an aberrant subcortical or cortical loop (possibly short-cutting the somatosensory cortex) that is involved in generating the prominent action myoclonus characterizing the disorder. The LBD findings highlight sustained hyperexcitability of the sensorimotor cortex in response to afferent stimuli, which fit with a more severe impairment of inhibitory mechanisms.

Highlights► We recorded NIRS from the visual cortex during pattern-reversal stimulation. ► Transient blood pressure changes were induced by arm-raising. ► Blood pressure changes significantly altered deep and shallow NIRS recordings. ► The effect appears to originate from both intra- and extra-cranial regions. ► Blood pressure must be considered as a potential confound in NIRS studies.

No abstract