Articles with "cnnm2 heterozygous" as a keyword



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CNNM2 Heterozygous Variant Presenting as Hypomagnesemia and West Syndrome: Expanding the Spectrum of CNNM2 Gene-Related Epileptic Disorders

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Published in 2021 at "Annals of Indian Academy of Neurology"

DOI: 10.4103/aian.aian_1130_20

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… read more here.

Keywords: west syndrome; cnnm2 heterozygous; hypomagnesemia; gene ... See more keywords