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Enfermedad de Lafora y efecto fundador en una pequeña localidad neotropical
(Universidad de Costa Rica, 2000)
¿Migraña o epilepsia? Cómo identificar y diferenciar las epilepsias occipitalesMigraine or Epilepsy. How to Identiify or Differentiate Occipital Epilepsies
(Universidad de Antioquia, Facultad de MedicinaMedellín, Colombia, 2021)
Encephalitis lethargica in Peru
(Taylor and Francis, 2021)
Encephalitis lethargica first appeared during World War 1, but reported cases gradually faded over the 1920s, and in the years following, cases were only sporadically reported. The clinical presentation was heterogeneous ...
NHLRC1 dodecamer repeat expansion demonstrated by whole genome sequencing in a Chihuahua with Lafora disease
(Wiley Blackwell Publishing, Inc, 2018-12-07)
Lafora disease is an autosomal recessive disor-der that causes myoclonic epilepsy.The disease is char-acterized by the presence of polyglucosan inclusion bodies (Lafora bodies), predominantly in the central nervous sys-tem. ...
Myoclonus and angiokeratomas in adult galactosialidosis
(Wiley-liss, Div John Wiley & Sons Inc, 2011-03)
Galactosialidosis is an autosomal recessive lysosomal storage disorder characterized by a combined deficiency of b- galactosidase and a-neuraminidase, due to a defect of another lysosomal protein, cathepsin A. The latter, ...
Epileptic chorea: Another window into neural networks?
(Elsevier Science, 2018-11)
Paroxysmal abnormalities of motor or non-motor function are defined as epileptic when they co-occur with specific patterns of organized electrical activity as measured by scalp electroencephalography (EEG). Certain forms ...