Rasmussen's encephalitis: structural, functional, and clinical correlates of contralesional epileptiform activity.

Progressive inflammation of one hemisphere characterises Rasmussen's encephalitis (RE), but contralesional epileptiform activity has been repeatedly reported. We aimed to quantify contralesional epileptiform activity in RE and uncover its functional and structural underpinnings. We retrospectively ascertained people with RE treated between 2000 and 2018 at a tertiary centre (Centre 1) and reviewed all available EEG datasets.

Novel Mutations Associated with Epilepsy: Broadening the Phenotypic Spectrum of -Associated Diseases.

Here, we describe four patients suffering from a rather broad spectrum of epilepsy-related disorders, ranging from developmental and epileptic encephalopathy with intellectual disability (DEE) to genetic generalized epilepsy (GGE), which all harbor novel mutations. In one family, we found a weak association of a novel nonsense mutation with epilepsy, suggesting reduced penetrance, and which shows, in agreement with previous findings, that gain-of-function effects rather than haploinsufficiency are important for the pathogenicity of mutations. De novo missense variants in the pore region of the channel result in severe phenotypes presenting usually with DEE with various malformations.

Reduced inflammatory response and accelerated functional recovery following sciatic nerve crush lesion in CXCR3-deficient mice.

Despite the regenerative capacity of the peripheral nerve system (PNS), functional recovery after mechanical nerve trauma is often incomplete, resulting in motor, sensory, and autonomic deficits. The elucidation of key molecules involved in trauma-induced Wallerian degeneration and the ensuing regeneration processes is a prerequisite for the development of disease modifying drugs. The chemokine (C-X-C motif) receptor 3 (CXCR3) has been implicated in the recruitment of macrophages, the major immune cell population during the process of Wallerian degeneration.

Sonographic assessment of the optic nerve and the central retinal artery in idiopathic intracranial hypertension.

Transorbital sonography easily detects papilledema and enlarged optic nerve sheath diameters (ONSD) in IIH (idiopathic intracranial hypertension) patients. As the central retinal artery is located within the optic nerve, its hemodynamic properties might be affected by the increased pressure. In this study we assessed the diagnostic usefulness of transorbital sonography in IIH with a special focus on color Doppler imaging of the central retinal artery.

Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNA mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia.

Chronic progressive external ophthalmoplegia (CPEO) is a frequent clinical manifestation of disorders caused by pathogenic mitochondrial DNA mutations. However, for diagnostic purposes skeletal muscle tissue is used, since extraocular muscle tissue is usually not available for work-up. In the present study we aimed to identify causative factors that are responsible for extraocular muscle to be primarily affected in CPEO.