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Updated: Jun 27, 2025

Measuring Cation Transport by Na,K- and H,K-ATPase in Xenopus Oocytes by Atomic Absorption Spectrophotometry: An Alternative to Radioisotope Assays
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Measuring Cation Transport by Na,K- and H,K-ATPase in Xenopus Oocytes by Atomic Absorption Spectrophotometry: An Alternative to Radioisotope Assays

Published on: February 19, 2013

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疾病频谱包括伴发性衰弱和脑病不由发烧引发的脑病

Chetan Immanneni1, Daniel Calame1, Song Jiao1

  • 1From the Sam Houston State University College of Osteopathic Medicine (C.I.), Conroe, TX; Molecular Neurophysiology Unit (C.I., S.J., M.H.), National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, MD; Section of Pediatric Neurology and Developmental Neuroscience (D.C.), Department of Pediatrics; Department of Molecular and Human Genetics (D.C., L.T.E.), Baylor College of Medicine; Texas Children's Hospital (D.C.), Houston, TX; National Human Genome Research Institute (S.T.Y.), National Institutes of Health, Bethesda, MD; and Section of Pediatric Neurology (S.T.Y.), Department of Pediatrics, University of Chicago, IL.

Neurology. Genetics
|April 30, 2024
PubMed
概括

ATP1A3中的致病变体会导致神经系统疾病. 一种新型变异,p.V130del,导致功能丧失和没有发烧的复发性脑病,扩大已知的疾病谱.

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Epilepsy is primarily characterized by unpredictable seizures, either provoked by an identifiable factor, such as injury or illness, or unprovoked, occurring spontaneously without apparent cause.
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