MCID: LND001
MIFTS: 36

Landau-Kleffner Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Landau-Kleffner Syndrome

MalaCards integrated aliases for Landau-Kleffner Syndrome:

Name: Landau-Kleffner Syndrome 12 77 54 55 38 45 15 17 74
Acquired Epileptiform Aphasia 54 55
Acquired Epileptic Aphasia 12 54
Acquired Aphasia with Convulsive Disorder 54
Lks 54

Classifications:



External Ids:

Disease Ontology 12 DOID:2538
KEGG 38 H01514
MeSH 45 D018887
NCIt 51 C84806
ICD10 34 G40.8
UMLS 74 C0282512

Summaries for Landau-Kleffner Syndrome

NIH Rare Diseases : 54 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 epilepsy, focal, with speech disorder and with or without mental retardation and epilepsy-aphasia spectrum. 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 : 55 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 : 77 Landau–Kleffner syndrome (LKS)—also called infantile acquired aphasia, acquired epileptic aphasia or... more...

Related Diseases for Landau-Kleffner Syndrome

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



Diseases related to Landau-Kleffner Syndrome

Symptoms & Phenotypes for Landau-Kleffner Syndrome

GenomeRNAi Phenotypes related to Landau-Kleffner Syndrome according to GeneCards Suite gene sharing:

27 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.68 ELP4 POMC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.68 POMC
3 Increased shRNA abundance (Z-score > 2) GR00366-A-123 9.68 ELP4
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.68 POMC
5 Increased shRNA abundance (Z-score > 2) GR00366-A-163 9.68 ELP4 GRIN2A
6 Increased shRNA abundance (Z-score > 2) GR00366-A-183 9.68 GRIN2A
7 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.68 ELP4
8 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.68 ELP4
9 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.68 POMC
10 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.68 POMC
11 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.68 GRIN2A
12 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.68 GRIN2A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-6 9.68 ELP4
14 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.68 POMC
15 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.68 POMC

MGI Mouse Phenotypes related to Landau-Kleffner Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 integument MP:0010771 8.92 GRIN2A ITSN2 NDUFS4 POMC

Drugs & Therapeutics for Landau-Kleffner Syndrome

Drugs for Landau-Kleffner Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 2, Phase 3 59-66-5 1986
2
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 2, Phase 3 439-14-5 3016
3 Anticonvulsants Phase 2, Phase 3,Phase 1
4 Anti-Anxiety Agents Phase 2, Phase 3
5 GABA Modulators Phase 2, Phase 3
6 Neuromuscular Agents Phase 2, Phase 3
7 Anesthetics Phase 2, Phase 3
8 Neurotransmitter Agents Phase 2, Phase 3
9 Natriuretic Agents Phase 2, Phase 3
10 Anesthetics, Intravenous Phase 2, Phase 3
11 Central Nervous System Depressants Phase 2, Phase 3
12 Gastrointestinal Agents Phase 2, Phase 3
13 Antiemetics Phase 2, Phase 3
14 diuretics Phase 2, Phase 3
15 Hypnotics and Sedatives Phase 2, Phase 3
16 Psychotropic Drugs Phase 2, Phase 3
17 Tranquilizing Agents Phase 2, Phase 3
18 Adjuvants, Anesthesia Phase 2, Phase 3
19 Peripheral Nervous System Agents Phase 2, Phase 3
20 Autonomic Agents Phase 2, Phase 3
21 Carbonic Anhydrase Inhibitors Phase 2, Phase 3
22 Anesthetics, General Phase 2, Phase 3
23 GABA Agents Phase 2, Phase 3
24
Dronabinol Approved, Illicit Phase 1 1972-08-3 16078
25 Epidiolex Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy Study of Acetazolamide Versus Diazepam in Continuous Spike and Wave/Landau-Kleffner Syndrome Enrolling by invitation NCT02904265 Phase 2, Phase 3 Diazepam;Acetazolamide
2 Cannabidiol in Children With Refractory Epileptic Encephalopathy Recruiting NCT03024827 Phase 1 CanniMed® 1:20
3 Genetic Basis of Idiopathic Focal Epilepsies With Cognitif Deficits Unknown status NCT00851331 Not Applicable
4 The Rolandic Epilepsy/ESES/Landau-Kleffner Syndrome and Correlation With Language Impairment Study Completed NCT01335425

Search NIH Clinical Center for Landau-Kleffner Syndrome

Cochrane evidence based reviews: landau-kleffner syndrome

Genetic Tests for Landau-Kleffner Syndrome

Anatomical Context for Landau-Kleffner Syndrome

MalaCards organs/tissues related to Landau-Kleffner Syndrome:

42
Testes, Brain, Temporal Lobe, Cortex

Publications for Landau-Kleffner Syndrome

Articles related to Landau-Kleffner Syndrome:

(show top 50) (show all 179)
# Title Authors Year
1
Neurocognitive and behavioral profiles of children with Landau-Kleffner syndrome. ( 27355396 )
2017
2
Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation. ( 26806548 )
2016
3
Comment on outcome following multiple subpial transection in Landau-Kleffner syndrome and related regression. ( 27041135 )
2016
4
In response: Comment on outcome following multiple subpial transection in Landau-Kleffner syndrome and related regression. ( 27041136 )
2016
5
Landau-Kleffner Syndrome: An Acquired Epileptic Aphasia. ( 26179689 )
2015
6
Evidence for normal letter-sound integration, but altered language pathways in a case of recovered Landau-Kleffner Syndrome. ( 26232266 )
2015
7
Outcome following multiple subpial transection in Landau-Kleffner syndrome and related regression. ( 26337264 )
2015
8
Landau-Kleffner syndrome: an uncommon dealt with case in Southeast Asia. ( 26420702 )
2015
9
Landau-Kleffner syndrome. ( 26627294 )
2015
10
Episodic epileptic verbal auditory agnosia in Landau Kleffner syndrome treated with combination diazepam and corticosteroids. ( 24453158 )
2014
11
Epidemiological study of Landau-Kleffner syndrome (LKS) in Japan. ( 23706409 )
2014
12
Landau-Kleffner syndrome: a study of 29 patients. ( 24315829 )
2014
13
Towards the identification of a genetic basis for Landau-Kleffner syndrome. ( 24828792 )
2014
14
Regional Cerebral Blood-Flow with 99mTc-ECD Brain Perfusion SPECT in Landau-Kleffner Syndrome: Report of Two Cases. ( 24868479 )
2014
15
Serial EEG study in a girl with Landau-Kleffner syndrome associated with continuous spikes and waves during slow sleep. ( 25070819 )
2014
16
Temporoparietal resection in a patient with Landau-Kleffner syndrome. ( 25149936 )
2014
17
Antiepileptic treatment in a child with Landau Kleffner syndrome: a case report. ( 25487625 )
2014
18
Acquired auditory agnosia in childhood and normal sleep electroencephalography subsequently diagnosed as Landau-Kleffner syndrome: a report of three cases. ( 23121226 )
2013
19
BECTS evolving to Landau-Kleffner Syndrome and back by subsequent recovery: a longitudinal language reorganization case study using fMRI, source EEG, and neuropsychological testing. ( 23399945 )
2013
20
Epileptic encephalopathy with continuous spike-waves during slow-wave sleep including Landau-Kleffner syndrome. ( 23622211 )
2013
21
Serial auditory-evoked potentials in the diagnosis and monitoring of a child with Landau-Kleffner syndrome. ( 24047944 )
2013
22
Lead poisoning in two children with Landau-Kleffner syndrome. ( 22578276 )
2012
23
Rehabilitation issues in Landau-Kleffner syndrome. ( 23030303 )
2012
24
EEG latency analysis for hemispheric lateralisation in Landau-Kleffner syndrome. ( 20675188 )
2011
25
Landau-Kleffner syndrome: a rare auditory processing disorder series of cases and review of the literature. ( 21074868 )
2011
26
A review of the relationships between Landau-Kleffner syndrome, electrical status epilepticus during sleep, and continuous spike-waves during sleep. ( 21242107 )
2011
27
Landau-Kleffner syndrome in Norway: long-term prognosis and experiences with the health services and educational systems. ( 21514895 )
2011
28
Changing perspectives on Landau-Kleffner syndrome. ( 21955111 )
2011
29
Sparse MEG source imaging in Landau-Kleffner syndrome. ( 22255439 )
2011
30
Early-onset acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and regressive autistic disorders with epileptic EEG abnormalities: the continuing debate. ( 20637551 )
2010
31
General anesthesia for a child with Landau-Kleffner syndrome, a case report. ( 20843226 )
2010
32
Acquired epileptic aphasia: Landau-Kleffner syndrome. ( 21887181 )
2009
33
Landau-Kleffner syndrome: long-term follow-up. ( 18930363 )
2009
34
Landau-Kleffner syndrome: 50 years after. ( 19682039 )
2009
35
The Landau-Kleffner syndrome. ( 19682040 )
2009
36
Specific language impairment versus Landau-Kleffner syndrome. ( 19682045 )
2009
37
Some facts about sleep relevant for Landau-Kleffner syndrome. ( 19682050 )
2009
38
Magnetoencephalography in Landau-Kleffner syndrome. ( 19682052 )
2009
39
Landau-Kleffner syndrome and CSWS syndrome: treatment with intravenous immunoglobulins. ( 19682053 )
2009
40
Rational treatment options with AEDs and ketogenic diet in Landau-Kleffner syndrome: still waiting after all these years. ( 19682054 )
2009
41
The surgical treatment of Landau-Kleffner syndrome. ( 19682055 )
2009
42
Sign language in Landau-Kleffner syndrome. ( 19682058 )
2009
43
Fifty years of Landau-Kleffner syndrome. Proceedings of an international symposium. November 2-4, 2007. Alden-Biesen, Belgium. ( 19746560 )
2009
44
When epilepsy interferes with word comprehension: findings in Landau-Kleffner syndrome. ( 18184944 )
2008
45
Age of onset and outcome in Landau-Kleffner syndrome (1985). ( 18834381 )
2008
46
Linking autism, regression and Landau-Kleffner syndrome: integrative role of nerve growth factor. ( 17157996 )
2007
47
Landau-Kleffner syndrome with lateral temporal focal cortical dysplasia and mesial temporal sclerosis: a 30-year follow-up. ( 17347054 )
2007
48
Possible involvement of the tip of temporal lobe in Landau-Kleffner syndrome. ( 17383838 )
2007
49
An in computo investigation of the Landau-Kleffner syndrome. ( 18002559 )
2007
50
Episodic receptive aphasia in a child with Landau-Kleffner Syndrome: PET correlates. ( 16632288 )
2006

Variations for Landau-Kleffner Syndrome

Expression for Landau-Kleffner Syndrome

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

Pathways for Landau-Kleffner Syndrome

GO Terms for Landau-Kleffner Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 8.62 GRIN2A NDUFS4

Sources for Landau-Kleffner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....