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Neuropediatrics 2020; 51(04): 292-294
DOI: 10.1055/s-0040-1701657
DOI: 10.1055/s-0040-1701657
Short Communication
Novel Mutation in ATP6V1A Gene with Infantile Spasms in an Indian Boy
Funding None.Further Information
Publication History
04 April 2019
26 November 2019
Publication Date:
11 February 2020 (online)
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.
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References
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