Clinical and Molecular Genetic Characterization of Landau Kleffner Syndrome: An Observational Cohort and Experimental Study.

ABSTRACT:

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.

Methods

Fifty-two patients with LKS were recruited via one quaternary referral center. Case-notes review delineated clinical features, long-term outcomes, and prognostic factors. Generalized estimating equations were used to determine the longitudinal association among electroencephalogram abnormalities, steroid therapy, and neuropsychological findings. After genetic s

SUBMITTER: Ngoh A 

PROVIDER: S-EPMC12577679 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature