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

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

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