MCID: LND001
MIFTS: 39

Landau-Kleffner Syndrome malady

Rare diseases, Mental diseases, Neuronal diseases categories

Summaries for Landau-Kleffner Syndrome

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NIH Rare Diseases:41 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). the disorder usually occurs in children between age 5 and 7. 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 is difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit disorder, mental retardation, childhood schizophrenia, or emotional/behavioral problems. treatment for lks usually consists of medications, such as anticonvulsants and corticosteroids, and speech therapy, which should be started early. some affected children may have a permanent severe language disorder, while others may regain much of their language abilities (although it may take months or years). last updated: 12/8/2008

MalaCards based summary: Landau-Kleffner Syndrome, also known as acquired epileptiform aphasia, is related to autistic disorder and aphasia. An important gene associated with Landau-Kleffner Syndrome is GRIN2A (glutamate receptor, ionotropic, N-methyl D-aspartate 2A), and among its related pathways are Amphetamine addiction and FSH signaling pathway. The compounds alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid and ketamine have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and testes, and related mouse phenotype normal.

NINDS:42 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). LKS affects the parts of the brain that control comprehension and speech. 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 is difficult to diagnose and may be misdiagnosed as autism, pervasive developmental disorder, hearing impairment, learning disability, auditory/verbal processing disorder, attention deficit disorder, mental retardation, childhood schizophrenia, or emotional/behavioral problems.

Wikipedia:63 Landau?Kleffner syndrome (LKS) ? also called infantile acquired aphasia, acquired epileptic aphasia or... more...

Aliases & Classifications for Landau-Kleffner Syndrome

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 42NINDS, 11DISEASES, 47Orphanet, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt, 34MESH via Orphanet, 61UMLS via Orphanet, 25ICD10
See all sources

Landau-Kleffner Syndrome, Aliases & Descriptions:

Name: Landau-Kleffner Syndrome 9 41 42 11 47 60
Acquired Epileptiform Aphasia 41 42
Acquired Epileptic Aphasia 9 47
 
Lks 41 47
Acquired Aphasia with Convulsive Disorder 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases
Anatomical: Mental diseases, Neuronal diseases


Characteristics (Orphanet epidemiological data):

47
landau-kleffner syndrome:
Inheritance: Autosomal dominant; Age of onset: Childhood; Age of death: any age


External Ids:

Disease Ontology9 DOID:2538
MeSH33 D018887
NCIt38 C84806
Orphanet47 98818
MESH via Orphanet34 D018887
UMLS via Orphanet61 C0282512
ICD1025 F80.3

Related Diseases for Landau-Kleffner Syndrome

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Graphical network of the top 20 diseases related to Landau-Kleffner Syndrome:



Diseases related to landau-kleffner syndrome

Symptoms for Landau-Kleffner Syndrome

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Drugs & Therapeutics for Landau-Kleffner Syndrome

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Drug clinical trials:

Search ClinicalTrials for Landau-Kleffner Syndrome

Search NIH Clinical Center for Landau-Kleffner Syndrome

Genetic Tests for Landau-Kleffner Syndrome

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Anatomical Context for Landau-Kleffner Syndrome

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MalaCards organs/tissues related to Landau-Kleffner Syndrome:

31
Brain, Temporal lobe, Testes, Cortex

Animal Models for Landau-Kleffner Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Landau-Kleffner Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.4BDNF, NDUFS4, MBP, RPS6KB2

Publications for Landau-Kleffner Syndrome

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Articles related to Landau-Kleffner Syndrome:

(show top 50)    (show all 167)
idTitleAuthorsYear
1
Temporoparietal resection in a patient with Landau-Kleffner syndrome. (25149936)
2014
2
Epidemiological study of Landau-Kleffner syndrome (LKS) in Japan. (23706409)
2013
3
Epileptic encephalopathy with continuous spike-waves during slow-wave sleep including Landau-Kleffner syndrome. (23622211)
2013
4
Landau-Kleffner syndrome in Norway: long-term prognosis and experiences with the health services and educational systems. (21514895)
2011
5
Landau-Kleffner syndrome: a rare auditory processing disorder series of cases and review of the literature. (21074868)
2011
6
Landau-Kleffner syndrome: long-term follow-up. (18930363)
2009
7
Acquired epileptic aphasia: Landau-Kleffner syndrome. (21887181)
2009
8
Landau-Kleffner syndrome: 50 years after. (19682039)
2009
9
Sign language in Landau-Kleffner syndrome. (19682058)
2009
10
When epilepsy interferes with word comprehension: findings in Landau-Kleffner syndrome. (18184944)
2008
11
Possible involvement of the tip of temporal lobe in Landau-Kleffner syndrome. (17383838)
2007
12
Neuropsychological findings in Rolandic epilepsy and Landau-Kleffner syndrome. (17105467)
2006
13
The pathophysiological mechanisms of cognitive and behavioral disturbances in children with Landau-Kleffner syndrome or epilepsy with continuous spike-and-waves during slow-wave sleep. (16617025)
2006
14
Landau-Kleffner syndrome, electrical status epilepticus in slow wave sleep, and language regression in children. (15362173)
2004
15
Electroencephalography findings in autism: similarities and differences from Landau-Kleffner syndrome. (15575417)
2004
16
Landau-Kleffner syndrome. (23377356)
2004
17
Landau-Kleffner syndrome responsive to levetiracetam. (14527502)
2003
18
The Landau-Kleffner syndrome. (11993733)
2002
19
Efficacy of intravenous immunoglobulin in Landau-Kleffner syndrome. (11992758)
2002
20
Landau-Kleffner Syndrome. (15309185)
2001
21
The Landau-Kleffner Syndrome. (15309183)
2001
22
Landau-Kleffner Syndrome: Localization of Epileptogenic Lesion Using Wavelet- Cross-Correlation Analysis. (12609372)
2001
23
Sign language in childhood epileptic aphasia (Landau-Kleffner syndrome). (11730147)
2001
24
Theory and testing in Landau-Kleffner Syndrome. (11844720)
2001
25
Pathophysiological accounts of language impairments in Landau-Kleffner syndrome. (11679310)
2001
26
Effects of high-dose intravenous corticosteroid therapy in Landau-Kleffner syndrome. (10738922)
2000
27
Magnetoencephalography in children with Landau-Kleffner syndrome and acquired epileptic aphasia. (10696012)
2000
28
Spindles-inducing mechanism modulates sleep activation of interictal epileptiform discharges in the Landau-Kleffner syndrome. (10691117)
2000
29
Landau-Kleffner syndrome: relation of clinical, EEG and Tc-99m-HMPAO brain SPECT findings and improvement in EEG after treatment. (10656276)
1999
30
Language outcome following multiple subpial transection for Landau-Kleffner syndrome. (10094262)
1999
31
Language disorders in Landau-Kleffner syndrome. (10073434)
1999
32
Landau Kleffner syndrome. (10216604)
1998
33
Chronic auditory agnosia following Landau-Kleffner syndrome: a 23 year outcome study. (9672766)
1998
34
Landau-Kleffner syndrome: consistent response to repeated intravenous gamma-globulin doses: a case report. (9118856)
1997
35
Discrimination of speech sounds in a boy with Landau-Kleffner syndrome: an intraoperative event-related potential study. (8892373)
1996
36
Multiple subpial transection for Landau-Kleffner syndrome. (8660018)
1996
37
Brain single photon emission computed tomography imaging in Landau-Kleffner syndrome. (8603627)
1996
38
Linguistic development in a patient with Landau-Kleffner syndrome: a nine-year follow-up. (7791945)
1995
39
Sounds triggers spikes in the Landau-Kleffner syndrome. (7519634)
1994
40
Landau-Kleffner syndrome: acquired epileptic aphasia in children. (7514057)
1994
41
Frequency modulation analysis in children with Landau-Kleffner syndrome. (8323151)
1993
42
Developmental dysphasias, epilepsy, and Landau-Kleffner syndrome. (7504408)
1993
43
Landau-Kleffner syndrome: epileptic activity in the auditory cortex. (1716495)
1991
44
Landau-Kleffner syndrome: a clinical and EEG study of five cases. (1700952)
1990
45
Cerebral glucose utilization during sleep in Landau-Kleffner syndrome: a PET study. (1700954)
1990
46
Acquired childhood aphasia with convulsive disorder (Landau-Kleffner syndrome). A case report. (1689510)
1990
47
Landau-Kleffner syndrome. EEG topographic studies. (2466418)
1989
48
Landau-Kleffner syndrome: a case study with a fourteen-year follow-up. (2468500)
1989
49
Landau-Kleffner syndrome--epileptic aphasia in children--possible role of toxoplasma gondii infection. (2479399)
1988-1989
50
The Landau-Kleffner syndrome of acquired epileptic aphasia: unusual clinical outcome, surgical experience, and absence of encephalitis. (2447519)
1988

Variations for Landau-Kleffner Syndrome

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Clinvar genetic disease variations for Landau-Kleffner Syndrome:

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1GRIN2ANM_000833.4(GRIN2A): c.652C> T (p.Gln218Ter)single nucleotide variantPathogenicrs387906637GRCh37Chr 16, 10032171: 10032171
2GRIN2ANM_000833.4(GRIN2A): c.1845C> A (p.Asn615Lys)single nucleotide variantPathogenicrs397518447GRCh37Chr 16, 9923442: 9923442
3GRIN2ANM_000833.4(GRIN2A): c.1945C> G (p.Leu649Val)single nucleotide variantPathogenicrs397514557GRCh37Chr 16, 9923342: 9923342
4GRIN2ANM_000833.4(GRIN2A): c.1655C> G (p.Pro552Arg)single nucleotide variantPathogenicrs397518450GRCh37Chr 16, 9928084: 9928084
5GRIN2AGRIN2A: c.1007+1G> Asingle nucleotide variantPathogenicrs397518465GRCh37Chr 16, 10031815: 10031815
6GRIN2ANM_000833.4(GRIN2A): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs397518466GRCh37Chr 16, 10274267: 10274267
7GRIN2ANM_000833.4(GRIN2A): c.2829C> G (p.Tyr943Ter)single nucleotide variantPathogenicrs397518467GRCh37Chr 16, 9858572: 9858572
8GRIN2ANM_000833.4(GRIN2A): c.1592C> T (p.Thr531Met)single nucleotide variantPathogenicrs397518468GRCh37Chr 16, 9934563: 9934563
9GRIN2AGRIN2A: c.1123-2A> Gsingle nucleotide variantPathogenicrs397518469GRCh37Chr 16, 9943820: 9943820
10GRIN2ANM_000833.4(GRIN2A): c.1553G> A (p.Arg518His)single nucleotide variantPathogenicrs397518470GRCh37Chr 16, 9934602: 9934602
11GRIN2ANM_000833.4(GRIN2A): c.1954T> G (p.Phe652Val)single nucleotide variantPathogenicrs397518471GRCh37Chr 16, 9923333: 9923333
12GRIN2ANM_000833.4(GRIN2A): c.2041C> T (p.Arg681Ter)single nucleotide variantPathogenicrs397518472GRCh37Chr 16, 9916248: 9916248

Expression for genes affiliated with Landau-Kleffner Syndrome

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Search GEO for disease gene expression data for Landau-Kleffner Syndrome.

Pathways for genes affiliated with Landau-Kleffner Syndrome

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Compounds for genes affiliated with Landau-Kleffner Syndrome

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Sources:
43Novoseek, 28IUPHAR, 12DrugBank, 59Tocris Bioscience, 24HMDB
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Compounds related to Landau-Kleffner Syndrome according to GeneCards Suite gene sharing:

(show all 27)
idCompoundScoreTop Affiliating Genes
1alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid439.8GRIN2A, BDNF
2ketamine43 28 1211.8BDNF, GRIN2A
33-nitropropionic acid439.7BDNF, NDUFS4
4glatiramer acetate43 1210.7BDNF, MBP
51 methyl 4 phenylpyridinium439.7NDUFS4, BDNF
66-hydroxydopamine439.6NDUFS4, BDNF
7mptp439.6NDUFS4, BDNF
8tetrodotoxin43 59 2811.6BDNF, MBP
9melatonin43 28 59 24 1213.6BDNF, NDUFS4
10lead439.5BDNF, GRIN2A
11silver439.5BDNF, MBP
12levodopa43 1210.5BDNF, NDUFS4
13corticosterone43 59 2411.4BDNF, MBP
14kainate43 2810.3BDNF, MBP, GRIN2A
15choline43 24 1211.3BDNF, MBP
16gaba439.3BDNF, MBP, GRIN2A
17nadph43 2410.3BDNF, NDUFS4, GRIN2A
18cocaine43 1210.2BDNF, MBP
19dopamine43 28 24 1212.2BDNF, NDUFS4, GRIN2A
20n acetylcysteine439.1BDNF, NDUFS4, MBP
21norepinephrine43 24 1211.1MBP, NDUFS4, BDNF
22lactate439.1BDNF, NDUFS4, MBP
23inositol439.0BDNF, MBP
24h2o2439.0MBP, NDUFS4, BDNF
25threonine439.0RPS6KB2, MBP, NDUFS4
26glutamate438.8BDNF, NDUFS4, MBP, GRIN2A
27serine438.3RPS6KB2, GRIN2A, MBP, NDUFS4, BDNF

GO Terms for genes affiliated with Landau-Kleffner Syndrome

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Cellular components related to Landau-Kleffner Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1synaptic vesicleGO:00080219.5BDNF, GRIN2A

Biological processes related to Landau-Kleffner Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1regulation of excitatory postsynaptic membrane potentialGO:00600799.4BDNF, GRIN2A
2mitochondrial electron transport, NADH to ubiquinoneGO:00061209.3BDNF, NDUFS4
3learning or memoryGO:00076119.2BDNF, GRIN2A

Products for genes affiliated with Landau-Kleffner Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Landau-Kleffner Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet