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Table 1 Neurological spectrum of the present and previously reported cases harboring ATP1A3 mutations at Arg756

From: De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis

  1. aAHC alternating hemiplegia of childhood
  2. bRDP rapid-onset dystonia-parkinsonism
  3. cCAPOS cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss
  4. NA no data available, Overlapping features aer highlighted
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BMC Neurology

ISSN: 1471-2377

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