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130,326 results
  • Mutations in SCN3A cause early infantile epileptic encephalopathy. [Journal Article]
  • ANAnn Neurol 2018 Feb 21
  • Zaman T, Helbig I, … Goldberg EM
  • CONCLUSIONS: These findings establish SCN3A as a new gene for infantile epileptic encephalopathy and suggest a potential pharmacologic intervention. These findings also reinforce the role of Nav1.3 as an important regulator of neuronal excitability in the developing brain while providing additional insight into mechanisms of slow inactivation of Nav1.3. This article is protected by copyright. All rights reserved.
  • Neuropathologic features of the hippocampus and amygdala in cats with familial spontaneous epilepsy. [Journal Article]
  • AJAm J Vet Res 2018; 79(3):324-332
  • Yu Y, Hasegawa D, … Uchida K
  • CONCLUSIONS: AND CLINICAL RELEVANCE Findings suggested that the lower numbers of neurons in the CA3 subregion of the hippocampus and the central nucleus of the amygdala were endophenotypes of familial spontaneous epilepsy in cats. In contrast to results of other veterinary medicine reports, severe epilepsy-related neuropathologic changes (eg, hippocampal sclerosis, amygdaloid sclerosis, mossy fiber sprouting, and granule cell pathological changes) were not detected in FSECs. Despite the use of a small number of cats with infrequent seizures, these findings contributed new insights on the pathophysiologic mechanisms of genetic-related epilepsy in cats.
  • Epilepsy with auditory features: Long-term outcome and predictors of terminal remission. [Journal Article]
  • EEpilepsia 2018 Feb 21
  • Bisulli F, Menghi V, … Tinuper P
  • CONCLUSIONS: Our data show a wide prognostic spectrum of EAF, ranging from mild forms with spontaneous remission, to severely refractory epilepsy addressed to surgery. The outcome, less favorable than expected from previous studies, appears to be primarily a function of 3 prognostic negative risk factors: age at onset < 10 years, auditory aura characterized by complex auditory hallucinations, and focal epileptiform abnormalities on scalp EEG. These predictors, easy to collect even at the first visit, may inform both clinicians and patients about the long-term prognosis and aid patient management.
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