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Stretch-activated Ion Channel TMEM63B Associates with Developmental and Epileptic Encephalopathies and Progressive Neurodegeneration

AMERICAN JOURNAL OF HUMAN GENETICS(2023)

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关键词
epilepsy,infantile spasms,abnormal myelination,white matter abnormality,ion channels,leak cation currents,epileptic encephalopathy,hemolytic anemia,osmotic stress
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