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Case Reports
. 2021 May;42(5):2115-2117.
doi: 10.1007/s10072-020-04898-1. Epub 2020 Nov 17.

Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene

Marianna Alagia  1 , Pia Bernardo  1   2 , Rita Genesio  3 , Elena Gennaro  4 , Nicola Brunetti-Pierri  5 , Antonietta Coppola  6 , Federico Zara  4 , Pasquale Striano  7 , Salvatore Striano  6 , Gaetano Terrone  8
Affiliations
Case Reports

Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene

Marianna Alagia et al. Neurol Sci. 2021 May.
No abstract available

Keywords: 1p13.2 microdeletion syndrome; Developmental and epileptic encephalopathy; NRAS gene; SCN8A gene.

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References

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