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LKS
MCID: LND001
MIFTS: 60

Landau-Kleffner Syndrome (LKS)

Categories: Neuronal diseases, Rare diseases
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Aliases & Classifications for Landau-Kleffner Syndrome

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MalaCards integrated aliases for Landau-Kleffner Syndrome:

Name: Landau-Kleffner Syndrome 11 19 52 58 75 28 5 43 14 16 71
Acquired Epileptic Aphasia 11 19 58 33
Lks 19 58
Acquired Aphasia with Convulsive Disorder 19
Acquired Epileptiform Aphasia 19
Childhood Epileptic Aphasia 33
Landau Kleffner Syndrome 33

Characteristics:


Inheritance:

Autosomal dominant 58

Prevelance:

1-9/1000000 (Japan) 58

Age Of Onset:

Childhood 58

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 31 32
ICD11: 33
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:2538
MeSH 43 D018887
NCIt 49 C84806
SNOMED-CT 68 230438007
ICD10 31 G40.8
MESH via Orphanet 44 D018887
ICD10 via Orphanet 32 F80.3
UMLS via Orphanet 72 C0282512
Orphanet 58 ORPHA98818
ICD11 33 348544271
UMLS 71 C0282512
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Summaries for Landau-Kleffner Syndrome

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NINDS: 52 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.

MalaCards based summary: Landau-Kleffner Syndrome, also known as acquired epileptic aphasia, is related to verbal auditory agnosia and speech and communication disorders. An important gene associated with Landau-Kleffner Syndrome is GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A), and among its related pathways/superpathways are Transmission across Chemical Synapses and fMLP Pathway. The drugs Acetazolamide and Diazepam have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and cortex, and related phenotypes are aphasia and speech apraxia

GARD: 19 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). Males are more often affected by LKS than females. In about 20% of people with LKS, genetic changes (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 genetic change in GRIN2A, but this testing is not done routinely.

Orphanet: 58 Landau-Kleffner syndrome (LKS) is an age-related epileptic encephalopathy where developmental regression occurs mainly in the language domain and the electroencephalographic (EEG) abnormalities are mainly localized around the temporal-parietal regions. The term acquired epileptic aphasia describes the main features of this condition.

Disease Ontology: 11 A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients.

Wikipedia: 75 Landau-Kleffner syndrome (LKS)—also called infantile acquired aphasia, acquired epileptic aphasia or... more...
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Related Diseases for Landau-Kleffner Syndrome

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

(show top 50) (show all 154)
# Related Disease Score Top Affiliating Genes
1 verbal auditory agnosia 31.2 SRPX2 GABRG2 ELP4
2 speech and communication disorders 30.6 SRPX2 POMC GRIN2B GRIN2A
3 encephalopathy 30.5 STXBP1 SCN1A PCDH19 CDKL5
4 status epilepticus 30.4 SCN1A PCDH19 KCNQ2 GRIN2B GRIN1
5 focal epilepsy 30.1 SCN2A SCN1A PCDH19 KCNQ2 GRIN2A GABRG2
6 speech disorder 30.1 SRPX2 GRIN2B GRIN2A GRIN1
7 autism spectrum disorder 29.9 STXBP1 SCN2A SCN1A PCDH19 GRIN2B GRIN2A
8 partial motor epilepsy 29.8 STXBP1 SCN2A SCN1A PCDH19 KCNQ2 GABRG2
9 polymicrogyria 29.6 SRPX2 SCN1A GRIN1
10 pervasive developmental disorder 29.6 SCN2A SCN1A PCDH10 GRIN2B GRIN2A CDKL5
11 attention deficit-hyperactivity disorder 29.3 SCN2A SCN1A POMC GRIN2B GRIN2A
12 autism 28.8 STXBP1 SCN2A SCN1A PCDH19 GRIN2D GRIN2B
13 early myoclonic encephalopathy 28.7 STXBP1 SCN2A SCN1A POMC PCDH19 PCDH10
14 childhood absence epilepsy 28.6 STXBP1 SCN2A SCN1A POMC PCDH19 PCDH10
15 epilepsy 28.4 STXBP1 SRPX2 SCN2A SCN1A POMC PCDH19
16 benign epilepsy with centrotemporal spikes 27.5 STXBP1 SRPX2 SLC9A7 SCN2A SCN1A PCDH19
17 epilepsy, focal, with speech disorder and with or without impaired intellectual development 11.9
18 epilepsy-aphasia spectrum 11.4
19 aphasia 11.2
20 agnosia 10.9
21 auditory agnosia 10.9
22 continuous spike-wave during slow sleep syndrome 10.8
23 ehlers-danlos syndrome, arthrochalasia type, 1 10.6
24 grin2a-related speech disorders and epilepsy 10.6
25 centralopathic epilepsy 10.5
26 visual epilepsy 10.5
27 specific language disorder 10.5
28 cysticercosis 10.3
29 cerebral arteritis 10.3
30 reading disorder 10.3
31 mutism 10.3
32 encephalitis 10.3
33 toxoplasmosis 10.3
34 febrile seizures, familial, 11 10.2 SCN1A GABRG2
35 generalized epilepsy with febrile seizures plus, type 1 10.2 SCN1A GABRG2
36 developmental and epileptic encephalopathy 43 10.2 SCN1A GABRG2
37 febrile seizures, familial, 8 10.2 SCN1A GABRG2
38 generalized epilepsy with febrile seizures plus, type 7 10.2 SCN1A GABRG2
39 seizures, benign familial infantile, 3 10.2 SCN2A KCNQ2
40 developmental and epileptic encephalopathy 13 10.2 SCN2A SCN1A
41 febrile seizures, familial, 4 10.2 SCN1A GABRG2
42 rolandic epilepsy-speech dyspraxia syndrome 10.2 SRPX2 GRIN2A
43 schnyder corneal dystrophy 10.2
44 glioma susceptibility 1 10.2
45 celiac disease 1 10.2
46 ataxia with vitamin e deficiency 10.2
47 cognitive function 1, social 10.2
48 dysphasia, familial developmental 10.2
49 abdominal obesity-metabolic syndrome 1 10.2
50 porphyria, acute hepatic 10.2

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



Diseases related to Landau-Kleffner Syndrome
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Symptoms & Phenotypes for Landau-Kleffner Syndrome

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Human phenotypes related to Landau-Kleffner Syndrome:

58 30 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 aphasia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002381
2 speech apraxia 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0011098
3 loss of speech 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0002371
4 spoken word recognition deficit 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0030391
5 continuous spike and waves during slow sleep 58 30 Hallmark (90%) Very frequent (99-80%)
 HP:0031491
6 developmental regression 58 30 Frequent (33%) Frequent (79-30%)
 HP:0002376
7 attention deficit hyperactivity disorder 58 30 Frequent (33%) Frequent (79-30%)
 HP:0007018
8 autistic behavior 58 30 Frequent (33%) Frequent (79-30%)
 HP:0000729
9 speech articulation difficulties 58 30 Frequent (33%) Frequent (79-30%)
 HP:0009088
10 eeg with generalized epileptiform discharges 58 30 Frequent (33%) Frequent (79-30%)
 HP:0011198
11 social and occupational deterioration 58 30 Frequent (33%) Frequent (79-30%)
 HP:0007086
12 eeg with temporal focal spikes 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012018
13 eeg with frontal focal spikes 58 30 Frequent (33%) Frequent (79-30%)
 HP:0012015
14 bilateral tonic-clonic seizure with generalized onset 30 Frequent (33%) HP:0025190
15 sleep disturbance 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002360
16 emotional lability 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000712
17 depression 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000716
18 slurred speech 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0001350
19 anxiety 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000739
20 memory impairment 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002354
21 gait ataxia 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002066
22 steppage gait 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003376
23 aggressive behavior 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0000718
24 frequent falls 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002359
25 impulsivity 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0100710
26 mutism 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002300
27 focal impaired awareness seizure 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0002384
28 difficulty standing 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0003698
29 atypical absence seizure 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0007270
30 nocturnal seizures 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0031951
31 non-convulsive status epilepticus without coma 58 30 Occasional (7.5%) Occasional (29-5%)
 HP:0032671
32 generalized clonic seizure 30 Occasional (7.5%) HP:0011169
33 focal myoclonic seizure 30 Occasional (7.5%) HP:0011166
34 epileptic encephalopathy 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0200134
35 autoimmune antibody positivity 58 30 Very rare (1%) Very rare (<4-1%)
 HP:0030057
36 seizure 58 Very frequent (99-80%)
37 behavioral abnormality 58 Frequent (79-30%)
38 bilateral tonic-clonic seizure 58 Occasional (29-5%)
39 hyperactivity 58 Occasional (29-5%)
40 generalized tonic-clonic seizures without focal onset 58 Frequent (79-30%)
41 short attention span 58 Occasional (29-5%)
42 focal motor seizure 58 Frequent (79-30%)
43 language impairment 58 Very frequent (99-80%)
44 generalized non-motor (absence) seizure 58 Frequent (79-30%)
45 focal myoclonic seizures 58 Occasional (29-5%)
46 generalized clonic seizures 58 Occasional (29-5%)
47 interictal eeg abnormality 58 Very frequent (99-80%)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased caspase 3/7 activity GR00318-A 9.13 GRIN1 GRIN2A GRIN2B
2 Reduced mammosphere formation GR00396-S 9.1 GRIN1 GRIN2B GRIN2D POMC SCN2A STXBP1
3 Decreased viability in pancreas lineage GR00235-A 8.85 SLC9A7

MGI Mouse Phenotypes related to Landau-Kleffner Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.83 CDKL5 GABRG2 GRIN1 GRIN2A GRIN2B GRIN2D
2 behavior/neurological MP:0005386 9.53 CDKL5 CNKSR2 GABRG2 GRIN1 GRIN2A GRIN2B
Sources

Drugs & Therapeutics for Landau-Kleffner Syndrome

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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, 1424-27-7 1986
2
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 2, Phase 3 439-14-5 3016
3 Carbonic Anhydrase Inhibitors Phase 2, Phase 3
4 Neurotransmitter Agents Phase 2, Phase 3
5 Anti-Anxiety Agents Phase 2, Phase 3
6 Psychotropic Drugs Phase 2, Phase 3
7 Antiemetics Phase 2, Phase 3
8 Anesthetics, Intravenous Phase 2, Phase 3
9 Anticonvulsants Phase 2, Phase 3
10 Anesthetics, General Phase 2, Phase 3
11 Anesthetics Phase 2, Phase 3
12 Hypnotics and Sedatives Phase 2, Phase 3
13 GABA Modulators Phase 2, Phase 3
14 Gastrointestinal Agents Phase 2, Phase 3
15 diuretics 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

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Genetic Tests for Landau-Kleffner Syndrome

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Genetic tests related to Landau-Kleffner Syndrome:

# Genetic test Affiliating Genes
1 Landau-Kleffner Syndrome 28 GRIN2A
Sources

Anatomical Context for Landau-Kleffner Syndrome

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Organs/tissues related to Landau-Kleffner Syndrome:

MalaCards : Brain, Temporal Lobe, Cortex, Skin
Sources

Publications for Landau-Kleffner Syndrome

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Articles related to Landau-Kleffner Syndrome:

(show top 50) (show all 478)
# Title Authors PMID Year
1
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. 62 5
28182669 2017
2
Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation. 62 5
26806548 2016
3
Towards the identification of a genetic basis for Landau-Kleffner syndrome. 62 5
24828792 2014
4
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. 62 5
23933820 2013
5
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. 62 5
23933819 2013
6
Autosomal dominant rolandic epilepsy and speech dyspraxia: a new syndrome with anticipation. 62 5
7574460 1995
7
A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability. 5
32238909 2020
8
GRIN2A-related disorders: genotype and functional consequence predict phenotype. 5
30544257 2019
9
A Novel Phenotype in a Previously Described Epilepsy-Aphasia Disorder. 5
29961510 2018
10
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. 5
28102150 2017
11
Mechanistic Insight into NMDA Receptor Dysregulation by Rare Variants in the GluN2A and GluN2B Agonist Binding Domains. 5
27839871 2016
12
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 5
25356970 2015
13
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. 5
25741868 2015
14
A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2. 5
24372385 2014
15
Two patients with a GRIN2A mutation and childhood-onset epilepsy. 5
24125812 2013
16
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 5
23933818 2013
17
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 5
20890276 2010
18
Identification of a genetic cluster influencing memory performance and hippocampal activity in humans. 5
16537520 2006
19
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
20
Differential diagnosis between autism spectrum disorder and other developmental disorders with emphasis on the preschool period. 62
36282408 2022
21
Koolen-de Vries syndrome associated with continuous spike-wave in sleep 62
35811432 2022
22
Long-term outcome of developmental and epileptic encephalopathies. 62
35489823 2022
23
Aphasia and a Dual-Stream Language Model in a 4-Year-Old Female with Landau-Kleffner Syndrome. 62
34852374 2022
24
Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy. 62
35833444 2022
25
Mild neurological phenotype in a family carrying a novel N-terminal null GRIN2A variant. 62
35367634 2022
26
What is the effect of pharmacological treatment for continuous spike-wave during slow wave sleep syndrome and Landau-Kleffner syndrome? A Cochrane Review summary with commentary. 62
35064927 2022
27
De novo GRIN2A variants associated with epilepsy and autism and literature review. 62
35217385 2022
28
The role of vagus nerve stimulation in genetic etiologies of drug-resistant epilepsy: a meta-analysis. 62
35303699 2022
29
Cerebral dominance in an unusual case of Landau-Kleffner syndrome. 62
34887295 2021
30
More than one self-limited epilepsy of childhood in the same patient: A multicenter study. 62
34547632 2021
31
A follow-up study in children with status epilepticus during sleep: From clinical spectrum to outcome. 62
33640565 2021
32
Clinical profile of patients with rolandic epilepsy at a clinic in rural Maharashtra. 62
34041163 2021
33
Early prediction of encephalopathic transformation in children with benign epilepsy with centro-temporal spikes. 62
32912653 2021
34
Cognitive linguistic Treatment in Landau Kleffner Syndrome: Improvement in Daily Life Communication. 62
34124282 2021
35
Pharmacological treatment for continuous spike-wave during slow wave sleep syndrome and Landau-Kleffner Syndrome. 62
33174224 2020
36
Methylprednisolone pulse therapy in 31 patients with refractory epilepsy: A single-center retrospective analysis. 62
32388139 2020
37
Music processing deficits in Landau-Kleffner syndrome: Four case studies in adulthood. 62
32442777 2020
38
Immunotherapy for GRIN2A and GRIN2D-related epileptic encephalopathy. 62
32289570 2020
39
Differential Diagnosis of Landau-Kleffner Syndrome Versus Post Encephalitis Syndrome in a 13-year-old Boy With Autism Spectrum Disorder. 62
32850252 2020
40
Immunotherapy in GRIN2A-negative Landau-Kleffner Syndrome. 62
32441907 2020
41
Landau-Kleffner Syndrome: A Diagnostic Challenge. 62
32257722 2020
42
Acquired epileptiform aphasia: 44 years after diagnosis. 62
33103104 2020
43
Epilepsy syndromes of childhood with sleep activation: Insights from functional imaging. 62
31875835 2020
44
Clinical Forms and GRIN2A Genotype of Severe End of Epileptic-Aphasia Spectrum Disorder. 62
33240831 2020
45
Sleep and Epilepsy Link by Plasticity. 62
32982931 2020
46
Social cognition and psychopathology in childhood and adolescence. 62
31196824 2019
47
Epilepsy and Autism Severity: A Study of 6,975 Children. 62
31124277 2019
48
Idiopathic encephalopathy related to status epilepticus during slow sleep (ESES) as a "pure" model of epileptic encephalopathy. An electroclinical, genetic, and follow-up study. 62
31254844 2019
49
Development of Ontology for Self-limited Epilepsy with Centrotemporal Spikes and Application of Data Mining Algorithms to Identify New Subtypes. 62
31507131 2019
50
Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations. 62
31149903 2019
Sources

Variations for Landau-Kleffner Syndrome

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ClinVar genetic disease variations for Landau-Kleffner Syndrome:

5 (show top 50) (show all 1198)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GRIN2A NM_001134407.3(GRIN2A):c.2829C>G (p.Tyr943Ter) SNV Pathogenic
 88729 rs397518467 GRCh37: 16:9858572-9858572
GRCh38: 16:9764715-9764715
2 GRIN2A NM_001134407.3(GRIN2A):c.1734C>G (p.Tyr578Ter) SNV Pathogenic
 411285 rs1060503228 GRCh37: 16:9928005-9928005
GRCh38: 16:9834148-9834148
3 GRIN2A NC_000016.9:g.(?_10273835)_(10274288_?)del DEL Pathogenic
 464050 GRCh37: 16:10273835-10274288
GRCh38:
4 GRIN2A NM_001134407.3(GRIN2A):c.1553G>T (p.Arg518Leu) SNV Pathogenic
 567708 rs397518470 GRCh37: 16:9934602-9934602
GRCh38: 16:9840745-9840745
5 GRIN2A NM_001134407.3(GRIN2A):c.2346_2356+8del DEL Pathogenic
 421444 rs1064795143 GRCh37: 16:9892126-9892144
GRCh38: 16:9798269-9798287
6 GRIN2A NC_000016.10:g.(?_9890966)_(9891120_?)del DEL Pathogenic
 532726 GRCh37: 16:9984823-9984977
GRCh38: 16:9890966-9891120
7 GRIN2A NC_000016.10:g.(?_9849736)_(9849981_?)del DEL Pathogenic
 532725 GRCh37: 16:9943593-9943838
GRCh38: 16:9849736-9849981
8 GRIN2A NM_001134407.3(GRIN2A):c.1901G>A (p.Trp634Ter) SNV Pathogenic
 532718 rs1555492769 GRCh37: 16:9923386-9923386
GRCh38: 16:9829529-9829529
9 GRIN2A NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter) SNV Pathogenic
 640659 GRCh37: 16:9934956-9934956
GRCh38: 16:9841099-9841099
10 GRIN2A NM_001134407.3(GRIN2A):c.1648del (p.Phe549_Leu550insTer) DEL Pathogenic
 641340 rs1596483044 GRCh37: 16:9934507-9934507
GRCh38: 16:9840650-9840650
11 GRIN2A NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs) DUP Pathogenic
 664825 rs1596587476 GRCh37: 16:10274201-10274202
GRCh38: 16:10180344-10180345
12 GRIN2A NC_000016.10:g.(?_9798257)_(9849981_?)del DEL Pathogenic
 830906 GRCh37: 16:9892114-9943838
GRCh38:
13 GRIN2A NC_000016.10:g.(?_9829403)_(9829672_?)del DEL Pathogenic
 831053 GRCh37: 16:9923260-9923529
GRCh38:
14 GRIN2A NC_000016.10:g.(?_9890966)_(10180431_?)del DEL Pathogenic
 831099 GRCh37: 16:9984823-10274288
GRCh38:
15 GRIN2A NM_001134407.3(GRIN2A):c.1123-2A>T SNV Pathogenic
 813769 GRCh37: 16:9943820-9943820
GRCh38: 16:9849963-9849963
16 GRIN2A NM_001134407.3(GRIN2A):c.1123-1G>A SNV Pathogenic
 839918 rs2042854251 GRCh37: 16:9943819-9943819
GRCh38: 16:9849962-9849962
17 GRIN2A NM_001134407.3(GRIN2A):c.1939G>T (p.Ala647Ser) SNV Pathogenic
 870418 rs2042447850 GRCh37: 16:9923348-9923348
GRCh38: 16:9829491-9829491
18 GRIN2A NM_001134407.3(GRIN2A):c.1529dup (p.Ser511fs) DUP Pathogenic
 813782 GRCh37: 16:9934625-9934626
GRCh38: 16:9840768-9840769
19 GRIN2A NM_001134407.3(GRIN2A):c.1054del (p.Glu352fs) DEL Pathogenic
 917870 rs2043685576 GRCh37: 16:9984911-9984911
GRCh38: 16:9891054-9891054
20 GRIN2A NM_001134407.3(GRIN2A):c.2189A>G (p.Tyr730Cys) SNV Pathogenic
 917871 rs1903138230 GRCh37: 16:9892301-9892301
GRCh38: 16:9798444-9798444
21 GRIN2A NM_001134407.3(GRIN2A):c.50_54del (p.Val17fs) MICROSAT Pathogenic
 917872 rs2050242587 GRCh37: 16:10274215-10274219
GRCh38: 16:10180358-10180362
22 GRIN2A NM_001134407.3(GRIN2A):c.1204del (p.Asp402fs) DEL Pathogenic
 948855 rs2042851617 GRCh37: 16:9943737-9943737
GRCh38: 16:9849880-9849880
23 GRIN2A NM_001134407.3(GRIN2A):c.851G>A (p.Trp284Ter) SNV Pathogenic
 951823 rs1555455620 GRCh37: 16:10031972-10031972
GRCh38: 16:9938115-9938115
24 GRIN2A NM_001134407.3(GRIN2A):c.1244dup (p.Phe416fs) DUP Pathogenic
 955660 rs2042850660 GRCh37: 16:9943696-9943697
GRCh38: 16:9849839-9849840
25 GRIN2A NM_001134407.3(GRIN2A):c.852G>A (p.Trp284Ter) SNV Pathogenic
 963123 rs1555455618 GRCh37: 16:10031971-10031971
GRCh38: 16:9938114-9938114
26 GRIN2A NM_001134407.3(GRIN2A):c.1549G>T (p.Glu517Ter) SNV Pathogenic
 961619 rs1555494686 GRCh37: 16:9934606-9934606
GRCh38: 16:9840749-9840749
27 GRIN2A NM_001134407.3(GRIN2A):c.593G>A (p.Trp198Ter) SNV Pathogenic
 1028882 rs1555455727 GRCh37: 16:10032230-10032230
GRCh38: 16:9938373-9938373
28 GRIN2A NM_001134407.3(GRIN2A):c.2833_2834insTTCAG (p.Asp945fs) INSERT Pathogenic
 1069106 GRCh37: 16:9858567-9858568
GRCh38: 16:9764710-9764711
29 GRIN2A NM_001134407.3(GRIN2A):c.812_813del (p.Glu271fs) MICROSAT Pathogenic
 1069297 GRCh37: 16:10032010-10032011
GRCh38: 16:9938153-9938154
30 GRIN2A NM_001134407.3(GRIN2A):c.1827G>A (p.Trp609Ter) SNV Pathogenic
 1069306 GRCh37: 16:9923460-9923460
GRCh38: 16:9829603-9829603
31 GRIN2A NM_001134407.3(GRIN2A):c.1497+1G>T SNV Pathogenic
 1069406 GRCh37: 16:9934792-9934792
GRCh38: 16:9840935-9840935
32 GRIN2A NC_000016.9:g.(?_9916111)_(9916291_?)del DEL Pathogenic
 1071858 GRCh37: 16:9916111-9916291
GRCh38:
33 GRIN2A NC_000016.9:g.(?_10273845)_(10274268_?)del DEL Pathogenic
 1071859 GRCh37: 16:10273845-10274268
GRCh38:
34 GRIN2A NC_000016.9:g.(?_9857006)_(9862956_?)del DEL Pathogenic
 1073743 GRCh37: 16:9857006-9862956
GRCh38:
35 GRIN2A NC_000016.9:g.(?_9916101)_(9923529_?)dup DUP Pathogenic
 1073744 GRCh37: 16:9916101-9923529
GRCh38:
36 GRIN2A NM_001134407.3(GRIN2A):c.460C>T (p.Gln154Ter) SNV Pathogenic
 1073902 GRCh37: 16:10032363-10032363
GRCh38: 16:9938506-9938506
37 GRIN2A NC_000016.9:g.(?_9984833)_(9984967_?)del DEL Pathogenic
 1075612 GRCh37: 16:9984833-9984967
GRCh38:
38 GRIN2A NM_001134407.3(GRIN2A):c.1134G>A (p.Trp378Ter) SNV Pathogenic
 1075856 GRCh37: 16:9943807-9943807
GRCh38: 16:9849950-9849950
39 GRIN2A NM_001134407.3(GRIN2A):c.1115G>A (p.Trp372Ter) SNV Pathogenic
 1076203 GRCh37: 16:9984850-9984850
GRCh38: 16:9890993-9890993
40 GRIN2A NM_001134407.3(GRIN2A):c.96dup (p.Ala33fs) DUP Pathogenic
 522057 rs1555491538 GRCh37: 16:10274172-10274173
GRCh38: 16:10180315-10180316
41 GRIN2A NM_001134407.3(GRIN2A):c.3358_3359insGGTG (p.Ile1120fs) INSERT Pathogenic
 1377453 GRCh37: 16:9858042-9858043
GRCh38: 16:9764185-9764186
42 GRIN2A NM_001134407.3(GRIN2A):c.645del (p.Gln216fs) DEL Pathogenic
 1413913 GRCh37: 16:10032178-10032178
GRCh38: 16:9938321-9938321
43 GRIN2A NM_001134407.3(GRIN2A):c.1425C>G (p.Tyr475Ter) SNV Pathogenic
 1366802 GRCh37: 16:9934865-9934865
GRCh38: 16:9841008-9841008
44 GRIN2A NM_001134407.3(GRIN2A):c.1702del (p.Val568fs) DEL Pathogenic
 1407756 GRCh37: 16:9928037-9928037
GRCh38: 16:9834180-9834180
45 GRIN2A NM_001134407.3(GRIN2A):c.3693dup (p.Ser1232fs) DUP Pathogenic
 1454126 GRCh37: 16:9857707-9857708
GRCh38: 16:9763850-9763851
46 GRIN2A NC_000016.9:g.(?_9857006)_(9923529_?)del DEL Pathogenic
 1455172 GRCh37: 16:9857006-9923529
GRCh38:
47 GRIN2A NC_000016.9:g.(?_9934484)_(9934981_?)del DEL Pathogenic
 1457680 GRCh37: 16:9934484-9934981
GRCh38:
48 GRIN2A NM_001134407.3(GRIN2A):c.1831C>A (p.Leu611Met) SNV Pathogenic
 1453886 GRCh37: 16:9923456-9923456
GRCh38: 16:9829599-9829599
49 GRIN2A NC_000016.9:g.(?_9857006)_(10274268_?)del DEL Pathogenic
 1459968 GRCh37: 16:9857006-10274268
GRCh38:
50 GRIN2A NC_000016.9:g.(?_9857006)_(10032428_?)del DEL Pathogenic
 1459339 GRCh37: 16:9857006-10032428
GRCh38:
Sources

Expression for Landau-Kleffner Syndrome

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

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

(show all 24)
# Super pathways Score Top Affiliating Genes
1
Transmission across Chemical Synapses 66
Show member pathways
 13.04 STXBP1 KCNQ2 GRIN2D GRIN2B GRIN2A GRIN1
2
fMLP Pathway 64
Show member pathways
 12.6 GRIN2D GRIN2B GRIN2A GRIN1
3
Neuropathic Pain-Signaling in Dorsal Horn Neurons 64
Show member pathways
 12.52 SCN2A SCN1A GRIN2D GRIN2B GRIN2A GRIN1
4
Beta-2 adrenergic-dependent CFTR expression 22
Show member pathways
 12.46 GRIN2D GRIN2B GRIN2A GRIN1
5
Activation of NMDA receptors and postsynaptic events 66
Show member pathways
 12.25 GRIN2D GRIN2B GRIN2A GRIN1
6
Dopamine-DARPP32 Feedback onto cAMP Pathway 64
12.25 GRIN1 GRIN2A GRIN2B GRIN2D KCNQ2
7
Neuroscience 3
12.09 STXBP1 SCN2A SCN1A POMC KCNQ2 GRIN2B
8
Protein-protein interactions at synapses 66
Show member pathways
 12.04 STXBP1 GRIN2D GRIN2B GRIN2A GRIN1
9
Neuroinflammation and glutamatergic signaling 74
12.03 GRIN2D GRIN2B GRIN2A GRIN1
10
Fragile X syndrome 74
Show member pathways
 11.97 GRIN2B GRIN2A GRIN1 GABRG2
11
Neurophysiological process Glutamate regulation of Dopamine D1A receptor signaling 22
Show member pathways
 11.78 GRIN2D GRIN2B GRIN2A GRIN1
12
Unblocking of NMDA receptors, glutamate binding and activation 66
Show member pathways
 11.76 GRIN2D GRIN2B GRIN2A GRIN1
13
Signal transduction_Erk Interactions- Inhibition of Erk 22
11.65 GRIN2D GRIN2B GRIN2A GRIN1
14
CREB1 phosphorylation through NMDA receptor-mediated activation of RAS signaling 66
Show member pathways
 11.52 GRIN2D GRIN2B GRIN1
15
NO/cGMP/PKG mediated neuroprotection 74
11.35 GRIN2D GRIN2B GRIN2A GRIN1
16
Splicing factor NOVA regulated synaptic proteins 74
11.26 KCNQ2 GRIN2B GRIN1 GABRG2
17
Interaction between L1 and Ankyrins 66
11.23 KCNQ2 SCN1A SCN2A
18
GPCRs, class C metabotropic glutamate, pheromone 74
Show member pathways
 11.18 GRIN2B GRIN2A GRIN1
19
Vitamin D-sensitive calcium signaling in depression 74
11.15 GRIN1 GRIN2B GRIN2D KCNQ2
20
Dravet syndrome 74
11.07 STXBP1 SCN1A PCDH19
21
nNOS Signaling at Neuronal Synapses 64
11.02 GRIN2D GRIN2B GRIN2A GRIN1
22
MTHFR deficiency 74
10.93 GRIN2D GRIN1
23
Pathogenesis of ALS 64
10.85 GRIN2D GRIN2B GRIN2A GRIN1
24
Rett syndrome causing genes 74
10.78 STXBP1 SCN2A SCN1A GRIN2B GRIN2A CDKL5
Sources

GO Terms for Landau-Kleffner Syndrome

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.59 SLC9A7 SCN2A SCN1A PCDH19 PCDH10 KCNQ2
2 membrane GO:0016021 10.59 SLC9A7 SCN2A SCN1A PCDH19 PCDH10 KCNQ2
3 neuron projection GO:0043005 10.16 GRIN2B GRIN2A GRIN1 GABRG2 CNKSR2
4 synapse GO:0045202 10.1 SRPX2 KCNQ2 GRIN2D GRIN2B GRIN2A GRIN1
5 glutamatergic synapse GO:0098978 10.1 STXBP1 SCN2A GRIN2D GRIN2A GABRG2 CNKSR2
6 plasma membrane GO:0005887 10.09 GABRG2 GRIN1 GRIN2A GRIN2B GRIN2D KCNQ2
7 plasma membrane GO:0005886 10.09 GABRG2 GRIN1 GRIN2A GRIN2B GRIN2D KCNQ2
8 postsynaptic density membrane GO:0098839 9.95 GRIN2A GRIN2B GRIN2D
9 synaptic membrane GO:0097060 9.92 GRIN1 GRIN2A GRIN2B SRPX2
10 node of Ranvier GO:0033268 9.85 SCN2A SCN1A KCNQ2
11 postsynaptic membrane GO:0045211 9.85 CNKSR2 GABRG2 GRIN1 GRIN2A GRIN2B GRIN2D
12 anchoring junction GO:0070161 9.83 SRPX2 GRIN2B GRIN2A GRIN1 GABRG2
13 sodium channel complex GO:0034706 9.63 SCN2A SCN1A
14 NMDA selective glutamate receptor complex GO:0017146 9.23 GRIN2D GRIN2B GRIN2A GRIN1

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 10.33 GRIN1 GRIN2A GRIN2B GRIN2D NDUFS4 PCDH19
2 chemical synaptic transmission GO:0007268 10.27 KCNQ2 GRIN2B GRIN2A GRIN1 GABRG2
3 calcium-mediated signaling GO:0019722 10.22 GRIN1 GRIN2A GRIN2B GRIN2D POMC
4 excitatory postsynaptic potential GO:0060079 10.21 GRIN2D GRIN2B GRIN2A GRIN1 GABRG2
5 regulation of synaptic plasticity GO:0048167 10.14 GRIN2D GRIN2B GRIN2A GRIN1
6 positive regulation of synaptic transmission, glutamatergic GO:0051968 10.1 GRIN2D GRIN2B GRIN2A GRIN1
7 positive regulation of excitatory postsynaptic potential GO:2000463 10.08 GRIN1 GRIN2A GRIN2B GRIN2D
8 long-term synaptic potentiation GO:0060291 10.07 GRIN2D GRIN2B GRIN2A
9 regulation of neuronal synaptic plasticity GO:0048168 10.06 GRIN2D GRIN2B GRIN2A GRIN1
10 regulation of membrane potential GO:0042391 10.04 SCN1A GRIN2A GRIN1 GABRG2
11 ionotropic glutamate receptor signaling pathway GO:0035235 10.03 GRIN2D GRIN2B GRIN2A GRIN1
12 monoatomic ion transmembrane transport GO:0034220 9.97 SCN2A SCN1A KCNQ2 GRIN2B GRIN2A GRIN1
13 excitatory chemical synaptic transmission GO:0098976 9.92 GRIN1 GRIN2A GRIN2B GRIN2D
14 positive regulation of cysteine-type endopeptidase activity GO:2001056 9.88 GRIN2B GRIN1
15 glutamate receptor signaling pathway GO:0007215 9.88 GRIN2D GRIN2B GRIN2A GRIN1
16 calcium ion transmembrane import into cytosol GO:0097553 9.86 GRIN2D GRIN2B GRIN2A GRIN1
17 monoatomic ion transport GO:0006811 9.85 SLC9A7 SCN2A SCN1A KCNQ2 GRIN2D GRIN2B
18 regulation of presynaptic membrane potential GO:0099505 9.73 SCN1A GRIN2D GRIN2B
19 monoatomic cation transmembrane transport GO:0098655 9.65 SCN2A SCN1A GRIN2D GRIN2B GRIN2A GRIN1
20 regulation of monoatomic cation transmembrane transport GO:1904062 9.23 GRIN2D GRIN2B GRIN2A GRIN1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 ligand-gated monoatomic ion channel activity GO:0015276 9.92 GRIN1 GRIN2A GRIN2B GRIN2D
2 glutamate binding GO:0016595 9.88 GRIN2D GRIN2B GRIN1
3 glycine binding GO:0016594 9.8 GRIN2B GRIN1
4 neurotransmitter binding GO:0042165 9.76 GRIN2D GRIN1
5 NMDA glutamate receptor activity GO:0004972 9.76 GRIN2D GRIN2B GRIN2A GRIN1
6 monoatomic cation channel activity GO:0005261 9.67 SCN2A SCN1A GRIN2D GRIN2A
7 ionotropic glutamate receptor activity GO:0004970 9.65 GRIN2D GRIN2B GRIN2A GRIN1
8 glutamate-gated calcium ion channel activity GO:0022849 9.56 GRIN2D GRIN2B GRIN2A GRIN1
9 ligand-gated monoatomic ion channel activity involved in regulation of presynaptic membrane potential GO:0099507 9.48 GRIN2D GRIN2B
10 ligand-gated monoatomic cation channel activity GO:0099094 9.43 GRIN2B GRIN2A
11 monoatomic ion channel activity GO:0005216 9.23 SCN2A SCN1A KCNQ2 GRIN2D GRIN2B GRIN2A
Sources

Sources for Landau-Kleffner Syndrome

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2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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