New-onset refractory status epilepticus and its subcategory febrile infection-related epilepsy syndrome are rare devastating clinical presentations in those without pre-existing relevant history, often in schoolchildren…
Objective Antibodies against leucine-rich glioma-inactivated 1 (LGI1-Abs) characterize a limbic encephalitis (LE) strongly associated with HLA-DRB1*07:01, although some patients lack LGI1-Abs in CSF or do…
Objective To evaluate for racial differences in triggering receptor expressed on myeloid cells 2 (TREM2), a key immune mediator in Alzheimer disease, the levels of…
Race is a social construct with profound consequences on health. Although race does not always segregate with genetic ancestry, some genetic variants are more frequently…
Objective Alzheimer disease (AD) is a common and costly neurodegenerative disorder. A large proportion of AD risk is heritable, and many genetic risk factors have…
Objective To test the hypothesis that many patients presenting with congenital insensitivity to pain have lesser known or unidentified mutations not captured by conventional genetic…
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Case presentation A 75-year-old man had a 3-month history of shooting and burning pain in all four limbs, with painless muscle twitches, fatigue and moderate…
Clinical question A 74-year-old retired male scientist reported visual misperceptions over 3 weeks. These included seeing objects as if through a camera lens, fluctuating brightness…
Clinical question A 26-year-old man noticed a facial asymmetry and double vision on awaking and went to the emergency room. There was left eye exotropia…
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