title: Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation.
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.
authors.affiliation: Duke University Medical Center, Durham.
authors.forename: Nina
authors.initials: N
authors.lastname: Fainberg
authors.affiliation: Carolinas Healthcare System, Charlotte, NC, USA.
authors.forename: Amy
authors.initials: A
authors.lastname: Harper
authors.affiliation: Duke University Medical Center, Durham.
authors.forename: Dmitry
authors.initials: D
authors.lastname: Tchapyjnikov
authors.affiliation: Duke University Medical Center, Durham.
authors.forename: Mohamad A
authors.initials: MA
authors.lastname: Mikati
mesh_terms: D001921:Brain / Q000503:physiopathology*; D002675:Child, Preschool; D004569:Electroencephalography / Q000379:methods; D006801:Humans; D007167:Immunotherapy / Q000379:methods; D018887:Landau-Kleffner Syndrome / Q000175:diagnosis / Q000503:physiopathology*; D008297:Male; D009154:Mutation / Q000235:genetics*; D016194:Receptors, N-Methyl-D-Aspartate / Q000235:genetics*; D012890:Sleep / Q000502:physiology; D013226:Status Epilepticus / Q000175:diagnosis / Q000503:physiopathology*
chemical_list: D016194:Receptors, N-Methyl-D-Aspartate
keywords: NMDA 2A receptor; electrical status epilepticus in sleep (ESES); epilepsy; speech regression