Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation
Ching‐Shiang Chi, Chi‐Ren Tsai, Hsiu-Fen Lee
Topics & Concepts
HypotoniaDystoniaParoxysmal dyskinesiaDopaminergicBiologyNeurological disorderHomovanillic acidInternal medicineNeuroscienceEndocrinologyDyskinesiaDopamineMedicineParkinson's diseaseGeneticsCentral nervous system diseaseDiseaseSerotoninReceptorRNA regulation and diseaseCellular transport and secretionProtein Tyrosine Phosphatases