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ARX mutations are associated with variable clinical phenotypes. We report a new neurodegenerative phenotype associated with a known ARX mutation and causing early abnormal neurodevelopment, a complex movement disorder, and early infantile epileptic encephalopathy with a suppression-burst pattern (Ohtahara syndrome). A male infant presented at age 5 months with a dyskinetic movement disorder, which was initially diagnosed as infantile spasms. Clinical deterioration was accompanied by progressive cortical atrophy with a reduction in white matter volume and resulting in death in the first year of life; such a rapidly progressive and severe phenotype has not previously been described. 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.

Original publication




Journal article


Dev Med Child Neurol

Publication Date





305 - 307


Atrophy, Cerebral Cortex, Child, Preschool, DNA Mutational Analysis, Dyskinesias, Homeodomain Proteins, Humans, Magnetic Resonance Imaging, Male, Nerve Degeneration, Phenotype, Point Mutation, Syndrome, Transcription Factors