Collabtopic: Landau kleffner syndrome
Kleffner syndrome (LKS) is a rare age-related epileptic encephalopathy, characterized by a developmental regression in the area of language, and electroencephalogram (EEG) anomalies located mainly around the temporoparietal areas. When present, the seizures consist of absence seizures or tonic-clonic episodes and occur more frequently during sleep. Behavioral disorders may form part of the clinical picture. The syndrome, described in 1957,[1] is also indicated as acquired aphasia with epilepsy (ICD-10, F80.3) for outlining the main signs of this disease. It is considered a form of continuous spike-waves during slow sleep syndrome (CSWS), although the two syndromes have a different clinical presentation and diagnostic significance.
The exact etiology of Landau-Kleffner syndrome is not known. Structural brain injuries are very rare in patients with LKS are not related to pathophysiology. Moreover, genetic factors may be involved. For instance, the disease can correlate with GRIN2A mutations (16p13.2). This gene encodes for a protein called GluN2A (also known as NR2A), which is a subunit of the N-methyl-D-aspartate (NMDA) glutamate-gated ion channel receptor. Of note, NR2A can be identified in high concentrations in brain areas crucial for speech and language, whereas NMDA receptors are involved in a wide range of functions related to memory and learning. Again, GRIN2A alterations have correlations with a considerable number of neurodevelopmental disorders that can include epilepsy among the clinical manifestations.[2][3]
There were suggestions regarding possible implications of autoimmune factors in the genesis of some forms of epilepsy.[4] Other studies have shown that in children with LKS, an increased rate of autoantibodies directed against brain-derived neurotrophic factor (BDNF) is present.[5] Potential involvement of the immune system and/or an inflammatory dysregulation could justify the response to corticosteroids in most cases of LKS.[6]
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