Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation.

Journal Article (Journal Article)

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.

Full Text

Duke Authors

Cited Authors

  • Fainberg, N; Harper, A; Tchapyjnikov, D; Mikati, MA

Published Date

  • March 2016

Published In

Volume / Issue

  • 18 / 1

Start / End Page

  • 97 - 100

PubMed ID

  • 26806548

Electronic International Standard Serial Number (EISSN)

  • 1950-6945

Digital Object Identifier (DOI)

  • 10.1684/epd.2016.0791


  • eng

Conference Location

  • France