Neuropediatrics, Table of Contents Neuropediatrics 2020; 51(04): 292-294DOI: 10.1055/s-0040-1701657 Short Communication Georg Thieme Verlag KG Stuttgart · New YorkNovel Mutation in ATP6V1A Gene with Infantile Spasms in an Indian Boy Authors Author Affiliations Razia A. Kadwa 1 Department of Pediatric Neurology, Ankura Hospital for Women and Children, Hyderabad, Telangana, India Recommend Article Abstract Buy Article(opens in new window) 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 Keywords ATP6V1A - epileptic encephalopathy - infantile spasms Full Text References 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 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 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 4 Michaud JL, Lachance M, Hamdan FF. , et al. The genetic landscape of infantile spasms. Hum Mol Genet 2014; 23 (18) 4846-4858 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
