2023-06-07

Sez6l2 autoimmunity in a large cohort study

There are many causes of cerebellar ataxia (CA) including neurodegeneration and autoimmunity. We detected antiseizure-related 6 homolog-like 2 (Sez6l2) antibody from the serum of a patient with subacute CA.1 In this study, we conducted an 11-year follow-up of a previously reported female (case 1)1 and reported two new cases (case 2 and case 3) of Sez6l2 antibody-positive CA in Japan (online supplemental table 1).
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2023-05-19

Comparative analyses define differences between BHD-associated renal tumour and sporadic chromophobe renal cell carcinoma

Background Birt-Hogg-Dubé (BHD) syndrome, caused by germline alteration of folliculin (FLCN) gene, develops hybrid oncocytic/chromophobe tumour (HOCT) and chromophobe renal cell carcinoma (ChRCC), whereas sporadic ChRCC does not harbor FLCN alteration. To date, molecular characteristics of these similar histological types of tumours have been incompletely elucidated.
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2023-05-17

Dynamics of AMPA receptors regulate epileptogenesis in patients with epilepsy

The excitatory glutamate α-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid receptors (AMPARs) contribute to epileptogenesis. Thirty patients with epilepsy and 31 healthy controls are scanned using positron emission tomography with our recently developed radiotracer for AMPARs, [11C]K-2, which measures the density of cell-surface AMPARs.
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2023-05-17

New Study Shows Key Role of Synaptic Plasticity in Modulating Brain Function in Patients with Epilepsy

Using a newly developed radiotracer, researchers find that Hebbian and homeostatic plasticity differentially regulate brain function in epilepsy
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