Download PDF
Neuropediatrics 2020; 51(04): 292-294
DOI: 10.1055/s-0040-1701657
Short Communication
Georg Thieme Verlag KG Stuttgart · New York

Novel Mutation in ATP6V1A Gene with Infantile Spasms in an Indian Boy

Razia A. Kadwa 
1   Department of Pediatric Neurology, Ankura Hospital for Women and Children, Hyderabad, Telangana, India
› Author Affiliations Funding None.
Further Information

Publication History

04 April 2019

26 November 2019

Publication Date:
11 February 2020 (online)

    Permissions and Reprints

Abstract

A 7-month-old boy with a novel mutation in ATP6V1A gene is described. The ATP6V1A gene has been recently identified to be associated with epileptic encephalopathies. Clinical features in this patient are different from cases reported so far, thus broadening the spectrum of ATP6V1A-associated epileptic encephalopathy.

Keywords

ATP6V1A - epileptic encephalopathy - infantile spasms
 

  • References

  • 1 Fassio A, Esposito A, Kato M. , et al; C4RCD Research Group. De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy. Brain 2018; 141 (06) 1703-1718
    CrossrefPubMedGoogle Scholar
  • 2 McRae JF, Clayton S, Fitzgerald TW, Kaplanis J, Prigmore E, Rajan D. Prevalence and architecture of de novo mutations in developmental disorders. Deciphering Developmental Disorders Study. Nature 2017; 542: 433-438
    PubMedGoogle Scholar
  • 3 Iossifov I, O'Roak BJ, Sanders SJ. , et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature 2014; 515 (7526): 216-221
    PubMedGoogle Scholar
  • 4 Michaud JL, Lachance M, Hamdan FF. , et al. The genetic landscape of infantile spasms. Hum Mol Genet 2014; 23 (18) 4846-4858
    CrossrefPubMedGoogle Scholar
  • 5 Alex R. Paciorkowski, Liu Lin Thio, and William B. Dobyns. A genetic and biologic classification of infantile spasms. Pediatr Neurol 2011; 45: 355-367
    CrossrefPubMedGoogle Scholar