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LKS
MCID: LND001
MIFTS: 35
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Landau-Kleffner Syndrome (LKS)
Categories:
Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Landau-Kleffner Syndrome:
Classifications: |
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NIH Rare Diseases
:
53
Landau-Kleffner syndrome (LKS) is a rare neurological syndrome characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and recurrent seizures (epilepsy). Children with LKS typically develop normally until signs and symptoms of the syndrome begin to develop between age 2 and 8 years. Males are more often affected by LKS than females.
In about 20% of people with LKS, mutations (changes) in the GRIN2A gene have been identified. The syndrome is inherited in an autosomal dominant manner. In other cases, the syndrome may be caused by changes to other unidentified genes. LKS is diagnosed when a doctor sees clinical features that are consistent with the syndrome such as a loss of speech and an electroencephalogram (EEG) that shows specific kinds of seizure activity. Genetic testing can be used to confirm if there is a mutation in GRIN2A, but this testing is not done routinely.
Treatment for LKS usually consists of medications such as anticonvulsants and corticosteroids to help prevent seizures. Speech therapy should also be started promptly in order to ensure the best long-term outlook for children with LKS.
MalaCards based summary : Landau-Kleffner Syndrome, also known as acquired epileptiform aphasia, is related to focal epilepsy and epilepsy, focal, with speech disorder and with or without mental retardation. An important gene associated with Landau-Kleffner Syndrome is GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A). The drugs Acetazolamide and Diazepam have been mentioned in the context of this disorder. Affiliated tissues include testes, brain and temporal lobe, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2) NINDS : 54 Landau-Kleffner syndrome (LKS) is a rare, childhood neurological disorder characterized by the sudden or gradual development of aphasia (the inability to understand or express language) and an abnormal electro-encephalogram (EEG). Specifically, the EEG typcally shows an increase to nearly continuous abnormal brain activity firing (spikes) during sleep that scientists believe impair memory formation. LKS affects the parts of the brain that control comprehension and speech, typically affecting understanding rather than expression. The disorder usually occurs in children between the ages of 5 and 7 years. Typically, children with LKS develop normally but then lose their language skills for no apparent reason. While many of the affected individuals have seizures, some do not. The disorder can be difficult to diagnose and may be misdiagnosed and should be recognized as different from the more common causes of autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit disorder, childhood schizophrenia, or emotional/behavioral problems. Wikipedia : 76 Landau�??Kleffner syndrome (LKS)�??also called infantile acquired aphasia, acquired epileptic aphasia or... more... |
GenomeRNAi Phenotypes related to Landau-Kleffner Syndrome according to GeneCards Suite gene sharing:26 (show all 12)
MGI Mouse Phenotypes related to Landau-Kleffner Syndrome:46
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Drugs for Landau-Kleffner Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 24)
Interventional clinical trials:
Cochrane evidence based reviews: landau-kleffner syndrome |
MalaCards organs/tissues related to Landau-Kleffner Syndrome:41
Testes,
Brain,
Temporal Lobe,
Cortex
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Articles related to Landau-Kleffner Syndrome:(show top 50) (show all 180)
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Genes related to Landau-Kleffner Syndrome (0 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Landau-Kleffner Syndrome.
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