英语词汇“epileptic encephalopathy, early infantile, type 5”的英英意思、用法、释义、翻译、读音、例句、短语、词组-英语词典

单词	epileptic encephalopathy, early infantile, type 5
释义	epileptic encephalopathy, early infantile, type 5 epileptic encephalopathy, early infantile, type 5 A disorder (OMIM:613477) characterised by seizures associated with hypsarrhythmia, profound mental retardation, lack of visual attention and speech development, and spastic quadriplegia. Molecular pathology Caused by defects of SPTAN1, which encodes non-erythrocytic alpha spectrin that serves as an essential scaffold protein, stabilising plasma membranes, and organises intracellular organelles.
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