ARX mutation testing should be undertaken in children aged less than 1 year with Ohtahara syndrome and a movement disorder, and in infants with unexplained neurodegeneration, progressive white matter loss, and cortical atrophy.
This combination of early infantile spasms followed by a complex movement disorder contributes further to extent the pleiotropy of the ARX-linked "interneuronopathy" and should lead the clinician to ARX mutation screening.
This combination of early infantile spasms followed by a complex movement disorder contributes further to extent the pleiotropy of the ARX-linked "interneuronopathy" and should lead the clinician to ARX mutation screening.