Stxbp1 stop‐loss mutation associated with complex early onset movement disorder without epilepsy

HIGHLIGHTS

• who: Spaull and colleagues from the University offor Children NHS Foundation Trust, London, UK have published the Article: STXBP1 Stopu2010Loss Mutation Associated with Complex Early Onset Movement Disorder without Epilepsy, in the Journal: (JOURNAL)
• what: The authors report a child with an STXBP1 stop-loss variant who presented with an infantile onset complex movement disorder without epilepsy and only mild cognitive difficulties. The authors propose this variant as the likely cause of disease in this patient due to phenotypic overlap, lack of alternative cause on detailed genetic analysis, and haploinsufficiency intolerance of the gene.
 



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