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Subsequent to the discovery of OCTN2 gene (SLC22A5), molecular analysis has become a routine test to establish definitive diagnosis when patients present with symptoms (clinical symptomatic patients)
doi:10.1212/WNL.0b013e3181bacf05 28VerninoS, LowPA, FealeyRD, StewartJD, FarrugiaG, LennonVA