Genetic Variant Reanalysis Reveals a Case of Sandhoff Disease with Onset of Infantile Epileptic Spasm Syndrome
Acta epileptologica（2024）
Key words
Infantile Sandhoff disease,Gene variant reanalysis,HEXB gene,Infantile epilepsy spasm syndrome,Cherry red spot,Human phenotype ontology
AI Read Science
Must-Reading Tree
Example
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined