LKS
MCID: LND001
MIFTS: 50

Landau-Kleffner Syndrome (LKS)

Categories: Ear diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Landau-Kleffner Syndrome

MalaCards integrated aliases for Landau-Kleffner Syndrome:

Name: Landau-Kleffner Syndrome 12 73 20 53 36 6 44 15 17 70
Acquired Epileptiform Aphasia 20 53
Acquired Epileptic Aphasia 12 20
Acquired Aphasia with Convulsive Disorder 20
Lks 20

Classifications:



External Ids:

Disease Ontology 12 DOID:2538
KEGG 36 H01514
MeSH 44 D018887
NCIt 50 C84806
SNOMED-CT 67 230438007
ICD10 32 G40.8
UMLS 70 C0282512

Summaries for Landau-Kleffner Syndrome

GARD : 20 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 auditory agnosia. An important gene associated with Landau-Kleffner Syndrome is GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A), and among its related pathways/superpathways are Circadian entrainment and Transmission across Chemical Synapses. The drugs Acetazolamide and Diazepam have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe, cortex and brain, and related phenotypes are behavior/neurological and nervous system

NINDS : 53 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.

KEGG : 36 Landau-Kleffner syndrome (LKS) is an epileptic encephalopathy that usually manifests itself in children aged 3-8 years with previously normal development. All LKS patients have abnormal EEG that is compatible with the diagnosis of epilepsy, however, only 70% have clinical seizures. The main symptoms are acute or subacute aphasia with inability to recognise, process or interpret verbal and/or non-verbal sounds. Although the exact etiology of LKS remains unclear, families with mutations in the GRIN2A gene have been described, in which some members have LKS. Recent reports have implicated susceptibility genes (SRPX2, ELP4) to idiopathic focal epilepsies.

Wikipedia : 73 Landau-Kleffner syndrome (LKS)—also called infantile acquired aphasia, acquired epileptic aphasia or... more...

Related Diseases for Landau-Kleffner Syndrome

Diseases related to Landau-Kleffner Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 136)
# Related Disease Score Top Affiliating Genes
1 epilepsy, focal, with speech disorder and with or without mental retardation 33.1 GRIN2B GRIN2A
2 auditory agnosia 31.7 SRPX2 GABRG2
3 verbal auditory agnosia 31.3 SRPX2 GABRG2 ELP4
4 status epilepticus 30.8 SCN1A PCDH19 KCNQ2 GRIN2B
5 myoclonic epilepsy of infancy 30.6 SCN1A GABRG2
6 low-grade astrocytoma 30.3 SCN2A SCN1A
7 childhood disintegrative disease 30.2 MECP2 CNTNAP2
8 speech disorder 29.9 SRPX2 MECP2 GRIN2B GRIN2A ELP4 CNTNAP2
9 speech and communication disorders 29.7 SRPX2 POMC MECP2 GRIN2B GRIN2A CNTNAP2
10 encephalopathy 29.4 STXBP1 SCN2A SCN1A PCDH19 MECP2 KCNT1
11 pervasive developmental disorder 29.1 SCN2A SCN1A MECP2 GRIN2B GRIN2A CNTNAP2
12 seizure disorder 29.0 STXBP1 SCN2A SCN1A PCDH19 MECP2 KCNQ2
13 focal epilepsy 29.0 SCN2A SCN1A MECP2 KCNT1 GRIN2B GRIN2A
14 early myoclonic encephalopathy 28.2 STXBP1 SCN2A SCN1A PCDH19 PCDH10 NDUFS4
15 alacrima, achalasia, and mental retardation syndrome 28.0 STXBP1 SCN2A SCN1A MECP2 KCNQ2 GRIN2B
16 autism spectrum disorder 28.0 STXBP1 SCN2A SCN1A POMC PCDH19 MECP2
17 epilepsy 27.7 STXBP1 SRPX2 SCN2A SCN1A PCDH19 MECP2
18 benign epilepsy with centrotemporal spikes 27.6 STXBP1 SRPX2 SCN2A SCN1A PCDH19 PCDH10
19 autism 27.5 STXBP1 SCN2A SCN1A POMC PCDH19 PCDH10
20 continuous spike-wave during slow sleep syndrome 11.3
21 epilepsy-aphasia spectrum 11.3
22 aphasia 11.2
23 agnosia 10.9
24 branchiootic syndrome 1 10.6
25 grin2a-related speech disorders and epilepsy 10.5
26 specific language disorder 10.4
27 rolandic epilepsy-speech dyspraxia syndrome 10.4 SRPX2 GRIN2A
28 febrile infection-related epilepsy syndrome 10.3 SCN1A PCDH19
29 spontaneous ocular nystagmus 10.3 POMC GRIN2A
30 cysticercosis 10.3
31 cerebral arteritis 10.3
32 mutism 10.3
33 encephalitis 10.3
34 febrile seizures, familial, 6 10.3 SCN1A GABRG2
35 febrile seizures, familial, 11 10.2 SCN1A GABRG2
36 epilepsy, familial temporal lobe, 5 10.2 SCN1A GABRG2
37 febrile seizures, familial, 8 10.2 SCN1A GABRG2
38 febrile seizures, familial, 4 10.2 SCN1A GABRG2
39 genetic epilepsy with febrile seizures plus 10.2 SCN2A SCN1A
40 generalized epilepsy with febrile seizures plus, type 2 10.1 SCN1A GABRG2
41 centralopathic epilepsy 10.1
42 glioma susceptibility 1 10.1
43 celiac disease 1 10.1
44 dysphasia, familial developmental 10.1
45 abdominal obesity-metabolic syndrome 1 10.1
46 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.1
47 striatal degeneration, autosomal dominant 2 10.1
48 polymicrogyria with or without vascular-type ehlers-danlos syndrome 10.1
49 tick-borne encephalitis 10.1
50 amusia 10.1

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



Diseases related to Landau-Kleffner Syndrome

Symptoms & Phenotypes for Landau-Kleffner Syndrome

MGI Mouse Phenotypes related to Landau-Kleffner Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.83 CNTNAP2 GABRG2 GRIN2A GRIN2B GRIN2D KCNQ2
2 nervous system MP:0003631 9.53 CNTNAP2 GABRG2 GRIN2A GRIN2B GRIN2D KCNQ2

Drugs & Therapeutics for Landau-Kleffner Syndrome

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

(show all 15)
# 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 Psychotropic Drugs Phase 2, Phase 3
4 Hypnotics and Sedatives Phase 2, Phase 3
5 Gastrointestinal Agents Phase 2, Phase 3
6 Anesthetics, General Phase 2, Phase 3
7 Anesthetics Phase 2, Phase 3
8 Antiemetics Phase 2, Phase 3
9 Anesthetics, Intravenous Phase 2, Phase 3
10 Anticonvulsants Phase 2, Phase 3
11 GABA Modulators Phase 2, Phase 3
12 Neurotransmitter Agents Phase 2, Phase 3
13 diuretics Phase 2, Phase 3
14 Anti-Anxiety Agents Phase 2, Phase 3
15 Carbonic Anhydrase Inhibitors Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Non-inferiority Prospective Randomized Trial of Acetazolamide Versus Diazepam in Patients With Continuous Spike and Wave in Sleep (CSWS)/Landau Kleffner Syndrome (LKS) Terminated NCT02904265 Phase 2, Phase 3 Diazepam;Acetazolamide
2 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:

40
Temporal Lobe, Cortex, Brain, Skin

Publications for Landau-Kleffner Syndrome

Articles related to Landau-Kleffner Syndrome:

(show top 50) (show all 433)
# Title Authors PMID Year
1
Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation. 6 61
26806548 2016
2
Towards the identification of a genetic basis for Landau-Kleffner syndrome. 6 61
24828792 2014
3
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. 6 61
23933819 2013
4
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. 61 6
23933820 2013
5
Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation. 6 61
7574460 1995
6
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 6
32238909 2020
7
GRIN2A-related disorders: genotype and functional consequence predict phenotype. 6
30544257 2019
8
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. 6
28102150 2017
9
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. 6
27839871 2016
10
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 6
26648591 2016
11
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 6
25356970 2015
12
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
13
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform. 6
24848745 2015
14
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 6
23933818 2013
15
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 6
20890276 2010
16
Identification of a genetic cluster influencing memory performance and hippocampal activity in humans. 6
16537520 2006
17
A follow-up study in children with status epilepticus during sleep: From clinical spectrum to outcome. 61
33640565 2021
18
Early prediction of encephalopathic transformation in children with benign epilepsy with centro-temporal spikes. 61
32912653 2021
19
Pharmacological treatment for continuous spike-wave during slow wave sleep syndrome and Landau-Kleffner Syndrome. 61
33174224 2020
20
Music processing deficits in Landau-Kleffner syndrome: Four case studies in adulthood. 61
32442777 2020
21
Methylprednisolone pulse therapy in 31 patients with refractory epilepsy: A single-center retrospective analysis. 61
32388139 2020
22
Differential Diagnosis of Landau-Kleffner Syndrome Versus Post Encephalitis Syndrome in a 13-year-old Boy With Autism Spectrum Disorder. 61
32850252 2020
23
Immunotherapy for GRIN2A and GRIN2D-related epileptic encephalopathy. 61
32289570 2020
24
Immunotherapy in GRIN2A-negative Landau-Kleffner Syndrome. 61
32441907 2020
25
Landau-Kleffner Syndrome: A Diagnostic Challenge. 61
32257722 2020
26
Acquired epileptiform aphasia: 44 years after diagnosis. 61
33103104 2020
27
Epilepsy syndromes of childhood with sleep activation: Insights from functional imaging. 61
31875835 2020
28
Sleep and Epilepsy Link by Plasticity. 61
32982931 2020
29
Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder. 61
33240831 2020
30
Social cognition and psychopathology in childhood and adolescence. 61
31196824 2019
31
Epilepsy and Autism Severity: A Study of 6,975 Children. 61
31124277 2019
32
Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a "pure" model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study. 61
31254844 2019
33
Development of Ontology for Self-limited Epilepsy with Centrotemporal Spikes and Application of Data Mining Algorithms to Identify New Subtypes. 61
31507131 2019
34
Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations. 61
31149903 2019
35
The association of epileptic focus estimated by magnetoencephalography with cognitive function in non-lesional epilepsy with continuous spikes and waves during slow wave sleep (ECSWS) children. 61
30342800 2019
36
Regression in children with epilepsy. 61
30537476 2019
37
An Uncommon Presentation of Mucopolysaccharidosis Type IIIb. 61
31327975 2019
38
The inhibitory effect of functional lesions on eloquent brain areas: from research bench to operating bed. 61
29595352 2018
39
Benign epilepsy with centrotemporal spikes - Current concepts of diagnosis and treatment. 61
30219586 2018
40
Amantadine: A new treatment for refractory electrical status epilepticus in sleep. 61
29754107 2018
41
[Study of GRIN2A mutation in epilepsy-aphasia spectrum disorders]. 61
29896722 2018
42
GRIN2A mutations in epilepsy-aphasia spectrum disorders. 61
29056244 2018
43
[Speech and language neurodevelopmental disorders in epilepsy: pathophysiologic mechanisms and therapeutic approaches]. 61
30251989 2018
44
Epilepsy in patients with autism: links, risks and treatment challenges. 61
29296085 2018
45
Neurocognitive and behavioral profiles of children with Landau-Kleffner syndrome. 61
27355396 2017
46
The Clinical Spectrum of Benign Epilepsy with Centro-Temporal Spikes: a Challenge in Categorization and Predictability. 61
28775948 2017
47
Is ketogenic diet treatment hepatotoxic for children with intractable epilepsy? 61
27866088 2016
48
Idiopathic focal epilepsies: the "lost tribe". 61
27435520 2016
49
GRIN2A-Related Speech Disorders and Epilepsy 61
27683935 2016
50
Current understanding and neurobiology of epileptic encephalopathies. 61
26992889 2016

Variations for Landau-Kleffner Syndrome

ClinVar genetic disease variations for Landau-Kleffner Syndrome:

6 (show top 50) (show all 720)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRIN2A NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val) SNV Pathogenic 39662 rs397514557 GRCh37: 16:9923342-9923342
GRCh38: 16:9829485-9829485
2 GRIN2A NM_001134407.3(GRIN2A):c.1655C>G (p.Pro552Arg) SNV Pathogenic 39663 rs397518450 GRCh37: 16:9928084-9928084
GRCh38: 16:9834227-9834227
3 GRIN2A NM_001134407.3(GRIN2A):c.1007+1G>A SNV Pathogenic 88727 rs397518465 GRCh37: 16:10031815-10031815
GRCh38: 16:9937958-9937958
4 GRIN2A NM_001134407.3(GRIN2A):c.2T>C (p.Met1Thr) SNV Pathogenic 88728 rs397518466 GRCh37: 16:10274267-10274267
GRCh38: 16:10180410-10180410
5 GRIN2A NM_001134407.3(GRIN2A):c.2829C>G (p.Tyr943Ter) SNV Pathogenic 88729 rs397518467 GRCh37: 16:9858572-9858572
GRCh38: 16:9764715-9764715
6 GRIN2A NM_001134407.3(GRIN2A):c.1123-2A>G SNV Pathogenic 88731 rs397518469 GRCh37: 16:9943820-9943820
GRCh38: 16:9849963-9849963
7 GRIN2A NM_001134407.3(GRIN2A):c.1954T>G (p.Phe652Val) SNV Pathogenic 88733 rs397518471 GRCh37: 16:9923333-9923333
GRCh38: 16:9829476-9829476
8 GRIN2A NM_001134407.3(GRIN2A):c.2041C>T (p.Arg681Ter) SNV Pathogenic 88734 rs397518472 GRCh37: 16:9916248-9916248
GRCh38: 16:9822391-9822391
9 GRIN2A NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter) SNV Pathogenic 29732 rs387906637 GRCh37: 16:10032171-10032171
GRCh38: 16:9938314-9938314
10 GRIN2A NM_001134407.3(GRIN2A):c.1734C>G (p.Tyr578Ter) SNV Pathogenic 411285 rs1060503228 GRCh37: 16:9928005-9928005
GRCh38: 16:9834148-9834148
11 GRIN2A NC_000016.9:g.(?_10273835)_(10274288_?)del Deletion Pathogenic 464050 GRCh37: 16:10273835-10274288
GRCh38:
12 GRIN2A NM_001134407.3(GRIN2A):c.487C>T (p.Gln163Ter) SNV Pathogenic 391457 rs1057524089 GRCh37: 16:10032336-10032336
GRCh38: 16:9938479-9938479
13 GRIN2A NM_001134407.3(GRIN2A):c.1901G>A (p.Trp634Ter) SNV Pathogenic 532718 rs1555492769 GRCh37: 16:9923386-9923386
GRCh38: 16:9829529-9829529
14 GRIN2A NC_000016.10:g.(?_9849736)_(9849981_?)del Deletion Pathogenic 532725 GRCh37: 16:9943593-9943838
GRCh38: 16:9849736-9849981
15 GRIN2A NC_000016.10:g.(?_9890966)_(9891120_?)del Deletion Pathogenic 532726 GRCh37: 16:9984823-9984977
GRCh38: 16:9890966-9891120
16 GRIN2A NM_001134407.3(GRIN2A):c.1553G>T (p.Arg518Leu) SNV Pathogenic 567708 rs397518470 GRCh37: 16:9934602-9934602
GRCh38: 16:9840745-9840745
17 GRIN2A NM_001134407.3(GRIN2A):c.2346_2356+8del Deletion Pathogenic 421444 rs1064795143 GRCh37: 16:9892126-9892144
GRCh38: 16:9798269-9798287
18 GRIN2A NM_001134407.3(GRIN2A):c.1648del (p.Phe549_Leu550insTer) Deletion Pathogenic 641340 rs1596483044 GRCh37: 16:9934507-9934507
GRCh38: 16:9840650-9840650
19 GRIN2A NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter) SNV Pathogenic 640659 GRCh37: 16:9934956-9934956
GRCh38: 16:9841099-9841099
20 GRIN2A NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs) Duplication Pathogenic 664825 rs1596587476 GRCh37: 16:10274201-10274202
GRCh38: 16:10180344-10180345
21 GRIN2A NM_001134407.3(GRIN2A):c.1123-2A>T SNV Pathogenic 813769 GRCh37: 16:9943820-9943820
GRCh38: 16:9849963-9849963
22 GRIN2A NM_001134407.3(GRIN2A):c.1362del (p.Lys454fs) Deletion Pathogenic 813772 GRCh37: 16:9934928-9934928
GRCh38: 16:9841071-9841071
23 GRIN2A NC_000016.10:g.(?_9798257)_(9849981_?)del Deletion Pathogenic 830906 GRCh37: 16:9892114-9943838
GRCh38:
24 GRIN2A NC_000016.10:g.(?_9829403)_(9829672_?)del Deletion Pathogenic 831053 GRCh37: 16:9923260-9923529
GRCh38:
25 GRIN2A NC_000016.10:g.(?_9890966)_(10180431_?)del Deletion Pathogenic 831099 GRCh37: 16:9984823-10274288
GRCh38:
26 GRIN2A NM_001134407.3(GRIN2A):c.1529dup (p.Ser511fs) Duplication Pathogenic 813782 GRCh37: 16:9934625-9934626
GRCh38: 16:9840768-9840769
27 GRIN2A NM_001134407.3(GRIN2A):c.1123-1G>A SNV Pathogenic 839918 GRCh37: 16:9943819-9943819
GRCh38: 16:9849962-9849962
28 GRIN2A NM_001134407.3(GRIN2A):c.1939G>T (p.Ala647Ser) SNV Pathogenic 870418 GRCh37: 16:9923348-9923348
GRCh38: 16:9829491-9829491
29 GRIN2A NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg) SNV Pathogenic 812185 GRCh37: 16:9934843-9934843
GRCh38: 16:9840986-9840986
30 GRIN2A NM_001134407.3(GRIN2A):c.1054del (p.Glu352fs) Deletion Pathogenic 917870 GRCh37: 16:9984911-9984911
GRCh38: 16:9891054-9891054
31 GRIN2A NM_001134407.3(GRIN2A):c.2189A>G (p.Tyr730Cys) SNV Pathogenic 917871 GRCh37: 16:9892301-9892301
GRCh38: 16:9798444-9798444
32 GRIN2A NM_001134407.3(GRIN2A):c.45_49TCTGG[1] (p.Val17fs) Microsatellite Pathogenic 917872 GRCh37: 16:10274215-10274219
GRCh38: 16:10180358-10180362
33 GRIN2A NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr) SNV Pathogenic 941334 GRCh37: 16:9923326-9923326
GRCh38: 16:9829469-9829469
34 GRIN2A NM_001134407.3(GRIN2A):c.1204del (p.Asp402fs) Deletion Pathogenic 948855 GRCh37: 16:9943737-9943737
GRCh38: 16:9849880-9849880
35 GRIN2A NM_001134407.3(GRIN2A):c.2326G>T (p.Asp776Tyr) SNV Pathogenic 952584 GRCh37: 16:9892164-9892164
GRCh38: 16:9798307-9798307
36 GRIN2A NM_001134407.3(GRIN2A):c.1244dup (p.Phe416fs) Duplication Pathogenic 955660 GRCh37: 16:9943696-9943697
GRCh38: 16:9849839-9849840
37 GRIN2A NM_001134407.3(GRIN2A):c.851G>A (p.Trp284Ter) SNV Pathogenic 951823 GRCh37: 16:10031972-10031972
GRCh38: 16:9938115-9938115
38 GRIN2A NM_001134407.3(GRIN2A):c.1549G>T (p.Glu517Ter) SNV Pathogenic 961619 GRCh37: 16:9934606-9934606
GRCh38: 16:9840749-9840749
39 GRIN2A NM_001134407.3(GRIN2A):c.852G>A (p.Trp284Ter) SNV Pathogenic 963123 GRCh37: 16:10031971-10031971
GRCh38: 16:9938114-9938114
40 GRIN2A NM_001134407.3(GRIN2A):c.176_179dup (p.Ala61fs) Duplication Pathogenic 975936 GRCh37: 16:10274089-10274090
GRCh38: 16:10180232-10180233
41 GRIN2A NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser) SNV Pathogenic 224990 rs869312916 GRCh37: 16:9923446-9923446
GRCh38: 16:9829589-9829589
42 GRIN2A NM_001134407.3(GRIN2A):c.593G>A (p.Trp198Ter) SNV Pathogenic 1028882 GRCh37: 16:10032230-10032230
GRCh38: 16:9938373-9938373
43 GRIN2A NM_001134407.3(GRIN2A):c.1845C>A (p.Asn615Lys) SNV Pathogenic 29733 rs397518447 GRCh37: 16:9923442-9923442
GRCh38: 16:9829585-9829585
44 GRIN2A NM_001134407.3(GRIN2A):c.2146G>A (p.Ala716Thr) SNV Pathogenic 205656 GRCh37: 16:9916143-9916143
GRCh38: 16:9822286-9822286
45 GRIN2A NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) SNV Pathogenic/Likely pathogenic 803217 rs1064796608 GRCh37: 16:9862853-9862853
GRCh38: 16:9768996-9768996
46 GRIN2A NM_001134407.3(GRIN2A):c.1328A>G (p.Asn443Ser) SNV Likely pathogenic 803218 rs1596494610 GRCh37: 16:9943613-9943613
GRCh38: 16:9849756-9849756
47 GRIN2A NM_001134407.3(GRIN2A):c.2007+1G>T SNV Likely pathogenic 813774 GRCh37: 16:9923279-9923279
GRCh38: 16:9829422-9829422
48 GRIN2A NM_001134407.3(GRIN2A):c.2007+1del Deletion Likely pathogenic 800809 rs1596471698 GRCh37: 16:9923279-9923279
GRCh38: 16:9829422-9829422
49 GRIN2A NM_001134407.3(GRIN2A):c.1373G>A (p.Gly458Glu) SNV Likely pathogenic 813787 GRCh37: 16:9934917-9934917
GRCh38: 16:9841060-9841060
50 GRIN2A NM_001134407.3(GRIN2A):c.1008-2A>G SNV Likely pathogenic 835125 GRCh37: 16:9984959-9984959
GRCh38: 16:9891102-9891102

Expression for Landau-Kleffner Syndrome

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

Pathways for Landau-Kleffner Syndrome

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

(show all 19)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.83 SCN1A KCNQ2 GRIN2D GRIN2B GRIN2A
2
Show member pathways
12.79 STXBP1 KCNQ2 GRIN2D GRIN2B GRIN2A GABRG2
3
Show member pathways
12.22 SCN2A SCN1A KCNT1 GRIN2D GRIN2B GRIN2A
4 12.15 KCNQ2 GRIN2D GRIN2B GRIN2A
5 12.11 POMC GRIN2D GRIN2B GRIN2A
6 11.93 GRIN2D GRIN2B GRIN2A
7 11.91 GRIN2D GRIN2B GRIN2A
8
Show member pathways
11.85 STXBP1 GRIN2D GRIN2B GRIN2A
9
Show member pathways
11.83 SCN2A SCN1A KCNQ2
10 11.81 STXBP1 SCN2A SCN1A POMC MECP2 KCNQ2
11
Show member pathways
11.8 GRIN2D GRIN2B GRIN2A
12
Show member pathways
11.75 GRIN2D GRIN2B GRIN2A
13
Show member pathways
11.66 GRIN2D GRIN2B GRIN2A
14 11.56 GRIN2D GRIN2B GRIN2A
15 11.06 SCN2A SCN1A KCNQ2
16 11.01 GRIN2D GRIN2B GRIN2A
17 10.9 GRIN2D GRIN2B GRIN2A
18 10.86 GRIN2D GRIN2B GRIN2A GABRG2
19 10.76 GRIN2D GRIN2B GRIN2A

GO Terms for Landau-Kleffner Syndrome

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.26 STXBP1 SCN2A SCN1A PCDH19 PCDH10 KCNT1
2 cell junction GO:0030054 9.95 SRPX2 GRIN2D GRIN2B GRIN2A GABRG2 CNTNAP2
3 integral component of plasma membrane GO:0005887 9.86 SCN2A PCDH19 PCDH10 KCNQ2 GRIN2D GRIN2B
4 axon GO:0030424 9.8 STXBP1 SCN2A SCN1A GABRG2 CNTNAP2
5 postsynaptic membrane GO:0045211 9.73 GRIN2D GRIN2B GRIN2A GABRG2
6 postsynapse GO:0098794 9.71 STXBP1 MECP2 GABRG2
7 synapse GO:0045202 9.7 SRPX2 MECP2 KCNQ2 GRIN2D GRIN2B GRIN2A
8 postsynaptic density membrane GO:0098839 9.54 GRIN2D GRIN2B GRIN2A
9 axon initial segment GO:0043194 9.51 SCN1A KCNQ2
10 synaptic membrane GO:0097060 9.5 SRPX2 GRIN2B GRIN2A
11 voltage-gated sodium channel complex GO:0001518 9.49 SCN2A SCN1A
12 sodium channel complex GO:0034706 9.46 SCN2A SCN1A
13 node of Ranvier GO:0033268 9.13 SCN2A SCN1A KCNQ2
14 NMDA selective glutamate receptor complex GO:0017146 8.8 GRIN2D GRIN2B GRIN2A

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

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.89 SCN2A SCN1A KCNQ2 GRIN2A GABRG2
2 chemical synaptic transmission GO:0007268 9.88 MECP2 KCNQ2 GRIN2B GRIN2A GABRG2
3 regulation of ion transmembrane transport GO:0034765 9.77 SCN2A SCN1A KCNQ2
4 regulation of membrane potential GO:0042391 9.74 SCN1A GRIN2A GABRG2
5 calcium-mediated signaling GO:0019722 9.72 GRIN2D GRIN2B GRIN2A
6 memory GO:0007613 9.71 SCN2A MECP2 GRIN2A
7 excitatory postsynaptic potential GO:0060079 9.71 MECP2 GRIN2D GRIN2B GRIN2A
8 cation transmembrane transport GO:0098655 9.7 SCN2A SCN1A GRIN2A
9 learning GO:0007612 9.69 MECP2 GRIN2A CNTNAP2
10 regulation of synaptic plasticity GO:0048167 9.67 MECP2 GRIN2D GRIN2B GRIN2A
11 ionotropic glutamate receptor signaling pathway GO:0035235 9.63 GRIN2D GRIN2B GRIN2A
12 startle response GO:0001964 9.61 MECP2 GRIN2D GRIN2A
13 membrane depolarization during action potential GO:0086010 9.59 SCN2A SCN1A
14 vocalization behavior GO:0071625 9.58 SRPX2 CNTNAP2
15 glutamate receptor signaling pathway GO:0007215 9.58 GRIN2B GRIN2A
16 neuromuscular process controlling posture GO:0050884 9.56 SCN1A MECP2
17 long-term synaptic potentiation GO:0060291 9.56 MECP2 GRIN2D GRIN2B GRIN2A
18 ion transport GO:0006811 9.56 SCN2A SCN1A KCNT1 KCNQ2 GRIN2D GRIN2B
19 excitatory chemical synaptic transmission GO:0098976 9.5 GRIN2D GRIN2B GRIN2A
20 calcium ion transmembrane import into cytosol GO:0097553 9.33 GRIN2D GRIN2B GRIN2A
21 brain development GO:0007420 9.17 PCDH19 NDUFS4 MECP2 GRIN2D GRIN2B GRIN2A

Molecular functions related to Landau-Kleffner Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.61 SCN2A SCN1A KCNQ2
2 cation channel activity GO:0005261 9.54 SCN2A SCN1A GRIN2A
3 ligand-gated ion channel activity GO:0015276 9.5 GRIN2D GRIN2B GRIN2A
4 ionotropic glutamate receptor activity GO:0004970 9.43 GRIN2D GRIN2B GRIN2A
5 voltage-gated sodium channel activity GO:0005248 9.4 SCN2A SCN1A
6 NMDA glutamate receptor activity GO:0004972 9.33 GRIN2D GRIN2B GRIN2A
7 ion channel activity GO:0005216 9.17 SCN2A SCN1A KCNQ2 GRIN2D GRIN2B GRIN2A
8 glutamate-gated calcium ion channel activity GO:0022849 9.13 GRIN2D GRIN2B GRIN2A

Sources for Landau-Kleffner Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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