Article
Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.
Annals of neurology - 1 Nov 2025
Ngoh Adeline, Clark Maria, Greenaway Rebecca, Chen Xiumin, Reid Kimberley M, Barwick Katy, Meyer Esther, Moulding Dale, Trump Natalie, Cross J Helen, Fraser Sean D, de Hayr Lachlan, Kullmann Dimitri M, Lynch Joseph W, Harvey Robert J, Kurian Manju A
Abstract excerpt
OBJECTIVE: Landau-Kleffner syndrome (LKS), is a rare, poorly-understood epileptic encephalopathy with spike-wave activation in sleep associated with mutations in GRIN2A, encoding the N-Methyl-D-Aspartate receptor (NMDAR) GluN2A subunit. Physicians rely on empirical treatments, with scarce information on treatment efficacy and outcomes. This study aims to improve the understanding and clinical management of LKS....
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