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Common root of 13 families with PS1 E280A mutation in Antioquia, Colombia. (Contributed by Dr. Francisco Lopera.)
Neuropharmacology & Neurotherapeutics
Sep. 10, 2020
Epilepsy & Seizures
Aphasic seizures are a specific type of inhibitory seizure, thus, they do not cause positive symptoms but disrupt ongoing cognitive tasks involving language. Aphasic status epilepticus should be considered in patients with transient and sustained aphasia not better explained by acute acquired brain lesion (stroke). EEG and brain imaging can help differentiate an aphasic seizure from aphasia due to other causes.
Feb. 02, 2014
Headache & Pain
Headaches are often part of the acute mononucleosis-like illness experienced as part of the primary infection with HIV-1. Headaches in these individuals range from a febrile headache associated with the systemic viral infection to headaches associated with retro-orbital pain, photophobia, and meningeal signs, reflecting acute viral lymphocytic meningitis. Headaches may also be secondary to an opportunistic infection or tumor or may be due to medication.
Feb. 24, 2021
Migraine is the most common diagnosis in the evaluation of acute headache. Diagnosis is made with a systematic approach to the headache, characterizing it in terms of duration, quality, location, and accompanying symptoms.
Aug. 22, 2021
May. 24, 2021
Oct. 12, 2020
Topiramate is a monosaccharide derivative with a sulfamate functionality. It is used as an add-on therapy to other antiepileptic drugs with the aim of controlling seizures as completely as possible. Those who tolerate topiramate have a good chance of seizure control. It is indicated for use in partial-onset seizures in adults and prophylaxis of migraine.
Jul. 11, 2021
Childhood Degenerative & Metabolic Disorders
Sialidosis is an autosomal recessive lysosomal storage disorder caused by deficiency of neuraminidase 1 due to NEU1 mutations. Type I is characterized by the development of ocular cherry-red spots and generalized myoclonus in the second or third decade of life. Type II is more severe than type I and is distinguished by the early onset of a progressive, rather severe, mucopolysaccharidosis-like phenotype with visceromegaly, dysostosis multiplex, and intellectual disability.
Dec. 28, 2019