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

Publication ,  Journal Article
Fainberg, N; Harper, A; Tchapyjnikov, D; Mikati, MA
Published in: Epileptic Disord
March 2016

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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Published In

Epileptic Disord

DOI

EISSN

1950-6945

Publication Date

March 2016

Volume

18

Issue

1

Start / End Page

97 / 100

Location

United States

Related Subject Headings

  • Status Epilepticus
  • Sleep
  • Receptors, N-Methyl-D-Aspartate
  • Neurology & Neurosurgery
  • Mutation
  • Male
  • Landau-Kleffner Syndrome
  • Immunotherapy
  • Humans
  • Electroencephalography
 

Citation

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Fainberg, N., Harper, A., Tchapyjnikov, D., & Mikati, M. A. (2016). Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation. Epileptic Disord, 18(1), 97–100. https://doi.org/10.1684/epd.2016.0791
Fainberg, Nina, Amy Harper, Dmitry Tchapyjnikov, and Mohamad A. Mikati. “Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation.Epileptic Disord 18, no. 1 (March 2016): 97–100. https://doi.org/10.1684/epd.2016.0791.
Fainberg N, Harper A, Tchapyjnikov D, Mikati MA. Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation. Epileptic Disord. 2016 Mar;18(1):97–100.
Fainberg, Nina, et al. “Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation.Epileptic Disord, vol. 18, no. 1, Mar. 2016, pp. 97–100. Pubmed, doi:10.1684/epd.2016.0791.
Fainberg N, Harper A, Tchapyjnikov D, Mikati MA. Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation. Epileptic Disord. 2016 Mar;18(1):97–100.
Journal cover image

Published In

Epileptic Disord

DOI

EISSN

1950-6945

Publication Date

March 2016

Volume

18

Issue

1

Start / End Page

97 / 100

Location

United States

Related Subject Headings

  • Status Epilepticus
  • Sleep
  • Receptors, N-Methyl-D-Aspartate
  • Neurology & Neurosurgery
  • Mutation
  • Male
  • Landau-Kleffner Syndrome
  • Immunotherapy
  • Humans
  • Electroencephalography