The Indian Journal of Pediatrics

, Volume 84, Issue 6, pp 473–474 | Cite as

Alternating Hemiplegia of Childhood with Novel Features

  • Hansashree Padmanabha
  • Jyotindra Nr. Goswami
  • Jitendra Kumar Sahu
  • Kathryn J. Swaboda
  • Pratibha Singhi
Scientific Letter

Keywords

Topiramate Arachnoid Cyst Flunarizine Joint Laxity Index Child 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Contributions

HP and JNG: Patient management, drafting the manuscript and review of literature; JKS: Patient management, final review of manuscript for intellectual content; KJS: Genetic analysis and final review of the manuscript for intellectual content; PS: Clinician-in-charge, critical review of the manuscript for intellectual content, final approval of the version to be published and will act as guarantor for the paper.

Compliance with Ethical Standards

Conflict of Interest

None.

Source of Funding

None.

References

  1. 1.
    Heinzen EL, Swoboda KJ, Hitomi Y, et al. De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet. 2012;44:1030–4.CrossRefPubMedPubMedCentralGoogle Scholar
  2. 2.
    Panagiotakaki E, De Grandis E, Stagnaro M, et al. Clinical profile of patients with ATP1A3 mutations in alternating hemiplegia of childhood—a study of 155 patients. Orphanet J Rare Dis. 2015;10:123.CrossRefPubMedPubMedCentralGoogle Scholar
  3. 3.
    Viollet L, Glusman G, Murphy KJ, et al. Alternating hemiplegia of childhood: retrospective genetic study and genotype-phenotype correlations in 187 subjects from the US AHCF registry. PLoS One. 2015;10:e0127045.CrossRefPubMedPubMedCentralGoogle Scholar
  4. 4.
    Gurrieri F, Tiziano FD, Zampino G, Neri G. Recognizable facial features in patients with alternating hemiplegia of childhood. Am J Med Genet A. 2016;170:2698–705.Google Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2017

Authors and Affiliations

  • Hansashree Padmanabha
    • 1
  • Jyotindra Nr. Goswami
    • 1
  • Jitendra Kumar Sahu
    • 1
  • Kathryn J. Swaboda
    • 2
  • Pratibha Singhi
    • 1
  1. 1.Pediatric Neurology and Neurodevelopment Unit, Department of PediatricsPostgraduate Institute of Medical Education and ResearchChandigarhIndia
  2. 2.Department of Neurology, Center for Human Genetics ResearchMassachusetts General HospitalBostonUSA

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