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  • Title: Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation.
    Author: Fainberg N, Harper A, Tchapyjnikov D, Mikati MA.
    Journal: Epileptic Disord; 2016 Mar; 18(1):97-100. PubMed ID: 26806548.
    Abstract:
    Landau-Kleffner syndrome (LKS) has been demonstrated in the past to respond to immunotherapy. Recently, some cases of LKS have been shown to be secondary to glutamate receptor (GRIN2A) mutations. Whether such cases respond to immunotherapy is not known. Here, we present the case of a 3-year-old boy with LKS found to have a GRIN2A heterozygous missense mutation, whose clinical symptoms and EEG responded to a course of combination oral steroids and monthly infusions of intravenous immunoglobulin. He then relapsed after discontinuation of this therapy, and responded again after a second course of intravenous immunoglobulin. We conclude that immunotherapy should be considered as a therapeutic option in patients with LKS who are also found to harbour GRIN2A mutations.
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