Paroxysmal exercise-induced movement disorders may be caused by energy metabolism disorders, such as Glut 1 deficiency, pyruvate dehydrogenase deficiency, or mitochondrial respiratory chain disorders. A 4-year-old boy with a history of febrile seizures presented with paroxysmal dystonia, triggered by exercise, or occurring at rest. Additional investigations demonstrated pallidal hyperintensities…
View all available purchase options and get full access to this article. Espay AJ, Vizcarra JA, Marsili L, et al. Revisiting protein aggregation as pathogenic…
Background and ObjectivesThere are currently no treatments that can halt or slow the progression of Parkinson disease (PD). The aim of this study was to…
Background and ObjectivesMaternal use of first-generation antiseizure medications (ASMs), such as valproate and phenobarbital, increases the risk of congenital malformations in offspring. Second-generation ASMs, such…
View all available purchase options and get full access to this article. Perucca P, Battino D, Bromley R, et al. Epilepsy-pregnancy registries: an update. Epilepsia.…
Background and ObjectivesAfrican American individuals have a higher risk of Alzheimer disease (AD) and related dementia (ADRD) than non-Hispanic White individuals. Some cross-sectional studies with…
AbstractA 9-year-old girl presented with encephalopathy, left upper extremity rhythmic shaking, and fever, after 1 month of intermittent headaches and 1 week of upper respiratory…
The valosin-containing protein (VCP)/p97 is a hexameric protein belonging to the so-called AAA family, a group of ATPase associated with diverse cellular activities. These enzymes…
Background and ObjectivesValosin Containing Protein-associated multisystem proteinopathy (VCP-MSP) is a progressive, autosomal dominant disorder caused by pathogenic variants in the VCP gene, resulting in a…
Background and ObjectivesCerebral amyloid angiopathy–related inflammation (CAAri) can present with acute or subacute encephalopathy, focal neurologic deficits, or seizures. In a population study, we describe…
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