Article

A novel de novo splicing mutation of STXBP1 in epileptic encephalopathy associated with hypomyelinating leukodystrophy

2023-03-29

Abstract excerpt

<h4>Background: </h4> Deleterious variations in STXBP1 are responsible for early infantile epileptic encephalopathy type 4 (EIEE4, OMIM # 612164) because of its dysfunction in the central nervous system. The clinical spectrum of the neurodevelopmental delays associated with STXBP1 aberrations is collectively defined as STXBP1 encephalopathy (STXBP1-E), the conspicuous features of which are highlighted by early-ons...

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Literature Corpus work: 17f67cbc-a9c9-51f2-9429-070d6e3e1fcd
DOI: 10.21203/rs.3.rs-2740700/v1

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