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Pediatr Neurol. 2014 Dec;51(6):850-3. doi: 10.1016/j.pediatrneurol.2014.08.015. Epub 2014 Aug 29.

Identical ATP1A3 mutation causes alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism phenotypes.

Author information

1
Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address: cyrus.boelman@sickkids.ca.
2
Division of Neurology, The Hospital for Sick Children, Toronto, Ontario, Canada.

Abstract

BACKGROUND:

Alternating hemiplegia of childhood and rapid-onset dystonia parkinsonism are two separate movement disorders with different dominant mutations in the same sodium-potassium transporter ATPase subunit gene, ATP1A3.

PATIENT:

We present a child with topiramate-responsive alternating hemiplegia of childhood who was tested for an ATP1A3 gene mutation.

RESULTS:

Gene sequencing revealed an identical ATP1A3 mutation as in three typical adult-onset rapid-onset dystonia parkinsonism cases but never previously described in an alternating hemiplegia of childhood case.

CONCLUSION:

The discordance of these phenotypes suggests that there are other undiscovered environmental, genetic, or epigenetic factors influencing the development of alternating hemiplegia of childhood or rapid-onset dystonia parkinsonism.

KEYWORDS:

ATP1A3; alternating hemiplegia of childhood; genetics; movement disorder; rapid-onset dystonia parkinsonism; topiramate

[Indexed for MEDLINE]

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