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West syndrome (WS) is one of the few most common early infantile epileptic encephalopathy. Although structural etiology contributes to a significant proportion of WS in developing countries, at the same… Click to show full abstract
West syndrome (WS) is one of the few most common early infantile epileptic encephalopathy. Although structural etiology contributes to a significant proportion of WS in developing countries, at the same time monogenic variants also play a critical role in the pathogenesis.[1] More than 60 EIEE genes have been identified till date, out of which the majority can cause west syndrome and the number is increasing every year.[2‐4] Mutations in the CNNM2 gene originally described to be associated with renal hypomagnesemia and recently also have been reported to be associated with seizures and developmental delay. However, mutations in the CNNM2 gene have never been associated with WS. Here, we are reporting for the first time a 4‐month‐old girl with WS caused by de novo novel heterozygous pathogenic mutation in the CNNM2 gene.
Journal Title: Annals of Indian Academy of Neurology
Year Published: 2021
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