BRE
MCID: BNG009
MIFTS: 60

Benign Epilepsy with Centrotemporal Spikes (BRE)

Categories: Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Benign Epilepsy with Centrotemporal Spikes

MalaCards integrated aliases for Benign Epilepsy with Centrotemporal Spikes:

Name: Benign Epilepsy with Centrotemporal Spikes 12 15
Rolandic Epilepsy 12 58 29 6
Benign Rolandic Epilepsy 12 58 70
Epilepsy, Rolandic 44 39 70
Benign Familial Epilepsy of Childhood with Rolandic Spikes 58
Benign Epilepsy of Childhood with Centrotemporal Spikes 58
Benign Childhood Epilepsy with Centrotemporal Spike 12
Centrotemporal Epilepsy 58
Sylvan Seizures 12
Bcects 12
Bects 58
Becrs 58
Bre 58

Characteristics:

Orphanet epidemiological data:

58
rolandic epilepsy
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Sweden); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3329
MeSH 44 D019305
ICD10 via Orphanet 33 G40.0
UMLS via Orphanet 71 C0376532 C2363129
Orphanet 58 ORPHA1945
UMLS 70 C0376532 C2363129

Summaries for Benign Epilepsy with Centrotemporal Spikes

MalaCards based summary : Benign Epilepsy with Centrotemporal Spikes, also known as rolandic epilepsy, is related to epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp and epilepsy. An important gene associated with Benign Epilepsy with Centrotemporal Spikes is GRIN2A (Glutamate Ionotropic Receptor NMDA Type Subunit 2A), and among its related pathways/superpathways are Developmental Biology and Circadian entrainment. The drugs Topiramate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include cortex, brain and eye, and related phenotypes are eeg with centrotemporal focal spike waves and sleep apnea

Wikipedia : 73 Benign Rolandic epilepsy or benign childhood epilepsy with centrotemporal spikes (BCECTS) is the most... more...

Related Diseases for Benign Epilepsy with Centrotemporal Spikes

Diseases related to Benign Epilepsy with Centrotemporal Spikes via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 172)
# Related Disease Score Top Affiliating Genes
1 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 33.3 TBC1D24 SCN2A
2 epilepsy 33.2 TBC1D24 SLC2A1 SCN9A SCN2A SCN1B SCN1A
3 focal epilepsy 32.2 TBC1D24 SLC2A1 SCN2A SCN1A RBFOX1 KCNT1
4 childhood absence epilepsy 32.1 SLC2A1 SCN2A SCN1B SCN1A PCDH19 KCNT1
5 seizure disorder 32.1 TBC1D24 SLC2A1 SCN2A SCN1B SCN1A PCDH19
6 epilepsy, myoclonic juvenile 31.6 SLC2A1 SCN2A SCN1B SCN1A PCDH19 KCNT1
7 early myoclonic encephalopathy 31.6 TBC1D24 SLC2A1 SCN9A SCN2A SCN1B SCN1A
8 epilepsy, idiopathic generalized 31.6 SLC2A1 SCN9A SCN2A SCN1B SCN1A RBFOX1
9 landau-kleffner syndrome 31.5 SCN2A SCN1A PCDH19 KCNT1 KCNQ2 GRIN2A
10 myoclonus 31.5 SLC2A1 EPM2A CSTB
11 benign familial neonatal epilepsy 31.5 SCN2A SCN1B SCN1A PCDH19 KCNQ3 KCNQ2
12 status epilepticus 31.4 SCN1A PCDH19 KCNQ2
13 migraine with or without aura 1 31.3 SCN9A SCN2A SCN1A KCNQ3 KCNQ2
14 alacrima, achalasia, and mental retardation syndrome 31.3 TBC1D24 SLC2A1 SCN2A SCN1A KCNQ3 KCNQ2
15 encephalopathy 31.2 SCN2A SCN1A PCDH19 KCNT1 KCNQ2 CSTB
16 generalized epilepsy with febrile seizures plus 31.1 SCN9A SCN2A SCN1B SCN1A PCDH19 KCNT1
17 autosomal dominant nocturnal frontal lobe epilepsy 31.1 SCN2A SCN1B SCN1A PCDH19 KCNT1 KCNQ3
18 lennox-gastaut syndrome 31.1 SLC2A1 SCN9A SCN2A SCN1B SCN1A PCDH19
19 febrile seizures 31.0 SCN9A SCN2A SCN1B SCN1A KCNQ2 GABRG2
20 pervasive developmental disorder 30.9 SCN2A SCN1A RBFOX1 GRIN2A CNTNAP2
21 benign neonatal seizures 30.9 SCN2A SCN1B SCN1A PCDH19 KCNT1 KCNQ3
22 temporal lobe epilepsy 30.9 SCN1B GRIN2A CPA6
23 dystonia 30.9 TBC1D24 SLC2A1 KCNQ2 GRIN2A GABRG2 CSTB
24 febrile seizures, familial, 8 30.8 SCN1B SCN1A GABRG2
25 kcnq2-related disorders 30.7 KCNQ3 KCNQ2
26 low-grade astrocytoma 30.5 SCN2A SCN1A
27 rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked 11.8
28 epilepsy, focal, with speech disorder and with or without mental retardation 11.6
29 centralopathic epilepsy 11.4
30 rolandic epilepsy-speech dyspraxia syndrome 11.1
31 convulsions, familial infantile, with paroxysmal choreoathetosis 11.1
32 episodic kinesigenic dyskinesia 1 11.1
33 continuous spike-wave during slow sleep syndrome 11.1
34 paroxysmal exertion-induced dyskinesia 11.1
35 epilepsy-aphasia spectrum 11.1
36 disease of mental health 10.9 TBC1D24 SLC2A1 SCN9A SCN2A SCN1A RBFOX3
37 early infantile epileptic encephalopathy 10.9 TBC1D24 SLC2A1 SCN9A SCN2A SCN1B SCN1A
38 dravet syndrome 10.9 TBC1D24 SLC2A1 SCN9A SCN2A SCN1B SCN1A
39 west syndrome 10.9 TBC1D24 SLC2A1 SCN2A SCN1B SCN1A PLCB1
40 neonatal period electroclinical syndrome 10.9 TBC1D24 SCN9A SCN2A SCN1B SCN1A PCDH19
41 childhood electroclinical syndrome 10.8 SLC2A1 SCN2A SCN1B SCN1A PCDH19 KCNT1
42 benign familial infantile epilepsy 10.8 SCN9A SCN2A SCN1B SCN1A PCDH19 KCNT1
43 early onset absence epilepsy 10.8 SLC2A1 SCN2A SCN1B SCN1A KCNQ3 KCNQ2
44 adolescence-adult electroclinical syndrome 10.8 SCN2A SCN1B SCN1A PCDH19 KCNQ3 KCNQ2
45 autism 10.8 SCN2A SCN1A RBFOX1 PCDH19 KCNQ3 GRIN2A
46 autism spectrum disorder 10.8 SCN2A SCN1A RBFOX1 PCDH19 KCNQ3 KCNQ2
47 unverricht-lundborg syndrome 10.8 TBC1D24 SCN1B SCN1A KCNQ3 KCNQ2 GABRG2
48 photosensitive epilepsy 10.8 SCN2A SCN1B SCN1A PCDH19 KCNQ3 KCNQ2
49 infancy electroclinical syndrome 10.8 SCN2A SCN1B SCN1A PCDH19 KCNT1 KCNQ3
50 familial febrile seizures 10.7 TBC1D24 SCN9A SCN2A SCN1B SCN1A KCNQ3

Graphical network of the top 20 diseases related to Benign Epilepsy with Centrotemporal Spikes:



Diseases related to Benign Epilepsy with Centrotemporal Spikes

Symptoms & Phenotypes for Benign Epilepsy with Centrotemporal Spikes

Human phenotypes related to Benign Epilepsy with Centrotemporal Spikes:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg with centrotemporal focal spike waves 58 31 hallmark (90%) Very frequent (99-80%) HP:0012557
2 sleep apnea 58 31 frequent (33%) Frequent (79-30%) HP:0010535
3 drooling 58 31 frequent (33%) Frequent (79-30%) HP:0002307
4 speech articulation difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0009088
5 laryngospasm 58 31 frequent (33%) Frequent (79-30%) HP:0025425
6 bilateral tonic-clonic seizure with focal onset 31 frequent (33%) HP:0007334
7 focal hemifacial clonic seizure 31 frequent (33%) HP:0007332
8 depressivity 58 31 occasional (7.5%) Occasional (29-5%) HP:0000716
9 attention deficit hyperactivity disorder 58 31 occasional (7.5%) Occasional (29-5%) HP:0007018
10 anxiety 58 31 occasional (7.5%) Occasional (29-5%) HP:0000739
11 specific learning disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001328
12 migraine 58 31 occasional (7.5%) Occasional (29-5%) HP:0002076
13 intellectual disability, borderline 58 31 occasional (7.5%) Occasional (29-5%) HP:0006889
14 dysesthesia 58 31 occasional (7.5%) Occasional (29-5%) HP:0012534
15 mood changes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001575
16 febrile seizure (within the age range of 3 months to 6 years) 31 occasional (7.5%) HP:0002373
17 eeg with irregular generalized spike and wave complexes 58 31 very rare (1%) Very rare (<4-1%) HP:0001326
18 atypical absence seizure 58 31 very rare (1%) Very rare (<4-1%) HP:0007270
19 paresthesia 58 Occasional (29-5%)
20 short attention span 58 Occasional (29-5%)
21 febrile seizures 58 Occasional (29-5%)
22 generalized tonic-clonic seizures with focal onset 58 Frequent (79-30%)
23 focal seizures, afebril 58 Frequent (79-30%)
24 hemifacial seizures 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Benign Epilepsy with Centrotemporal Spikes:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 CNTNAP2 CSTB DEPDC5 EPM2A GABRG2 GRIN2A
2 growth/size/body region MP:0005378 10.03 CNTNAP2 CSTB DEPDC5 EPM2A GABRG2 KCNQ2
3 mortality/aging MP:0010768 9.77 DEPDC5 EPM2A GABRG2 KCNQ2 KCNQ3 PLCB1
4 nervous system MP:0003631 9.58 CNTNAP2 CSTB DEPDC5 EPM2A GABRG2 GRIN2A

Drugs & Therapeutics for Benign Epilepsy with Centrotemporal Spikes

Drugs for Benign Epilepsy with Centrotemporal Spikes (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Topiramate Approved Phase 4 97240-79-4 5284627
2
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
3
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
6
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
7
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
8
Oxcarbazepine Approved Phase 4 28721-07-5 34312
9
Levetiracetam Approved Phase 4 102767-28-2 441341
10
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
11
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
12 Hypoglycemic Agents Phase 4
13 glucocorticoids Phase 4
14 Neurotransmitter Agents Phase 4
15 Hormone Antagonists Phase 4
16 Methylprednisolone Acetate Phase 4
17 Hormones Phase 4
18 Antineoplastic Agents, Hormonal Phase 4
19 Anti-Inflammatory Agents Phase 4
20 Anticonvulsants Phase 4
21 Nootropic Agents Phase 4
22 Psychotropic Drugs Phase 4
23 Sodium Channel Blockers Phase 4
24 Analgesics, Non-Narcotic Phase 4
25 Analgesics Phase 4
26 Diuretics, Potassium Sparing Phase 4
27
Sulthiame Approved Phase 3 61-56-3
28
Zaleplon Approved, Illicit, Investigational 151319-34-5 5719
29 Fluorodeoxyglucose F18

Interventional clinical trials:

(show all 18)
# Name Status NCT ID Phase Drugs
1 A Randomized, Open Label, Comparative, Multi-center Clinical Trial to Determine the Efficacy and Safety of Topiramate Comparing With Carbamazepine in Benign Rolandic Epilepsy. Completed NCT00216567 Phase 4 topamax
2 Efficacy of Levetiracetam for Language Dysfunction Associated With Benign Epilepsy With Centrotemporal Spikes Completed NCT00181116 Phase 4 Levetiracetam
3 Electroclinical Effect of Steroid in Patients With Benign Childhood Epilepsy With Centrotemporal Spikes Recruiting NCT03490487 Phase 4 conventional antiepileptic drugs;oral steroid
4 Randomised Factorial Design Controlled Trial Comparing Carbamazepine, Levetiracetam or Active Monitoring Combined With or Without Sleep Behaviour Intervention in Treatment Naive Children With Rolandic Epilepsy Terminated NCT04610879 Phase 4 Carbamazepine;Levetiracetam
5 HEAD-TO-HEAD Evaluation of the Antiepileptic Drugs Levetiracetam (LEV) vs. Sulthiame (STM) in a German Multi-Centre, Doubleblind Controlled Trial in Children With Benign Epilepsy With Centro-Temporal Spikes Terminated NCT00471744 Phase 3 Treatment with levetiracetam or sulthiame over a six-month period.
6 Imaging the Effect of Centrotemporal Spikes and Seizures on Language in Children Completed NCT01521130 Phase 1 Levetiracetam
7 Genetics of Rolandic Epilepsy Unknown status NCT00282854
8 Scholar Performance and Praxis Assessment in Children With Rolandic Epilepsy Unknown status NCT01046760
9 Sleep Related Memory Consolidation in Children With Age Related Focal Epilepsy. Unknown status NCT03865771
10 Facial Emotion Decoding in Benign Partial Epilepsy of Childhood With Centrotemporal Spikes Unknown status NCT03465566
11 Dynamic Regional Brain Maturation in Children With Localization Related Epilepsy Completed NCT02648529
12 18F-FDG PET Imaging Analysis of Antiepileptic Drug Response in Benign Epilepsy With Centrotemporal Spikes Patients Completed NCT04357236
13 The Rolandic Epilepsy/ESES/Landau-Kleffner Syndrome and Correlation With Language Impairment Study Completed NCT01335425
14 A Randomized, Single-Blinded Clinical Trial: The Effect of Music Periodicity on Interictal Epileptiform Discharges Completed NCT01515436
15 Sleep-dependent Memory Consolidation in Children With Sleep Diseases Completed NCT02785328
16 Rolandic Epilepsy Genomewide Association International Study Recruiting NCT03547050
17 Auditory Stimulation Effect on Spindles and Sleep Dependent Learning in Rolandic Epilepsy Recruiting NCT04569708
18 Impact of Repetitive Transcranial Magnetic Stimulation (TMS) on Spike Frequency and Brain Connectivity in Children With Benign Epilepsy With Centrotemporal Spike (BECTS) Enrolling by invitation NCT04325282

Search NIH Clinical Center for Benign Epilepsy with Centrotemporal Spikes

Cochrane evidence based reviews: epilepsy, rolandic

Genetic Tests for Benign Epilepsy with Centrotemporal Spikes

Genetic tests related to Benign Epilepsy with Centrotemporal Spikes:

# Genetic test Affiliating Genes
1 Rolandic Epilepsy 29

Anatomical Context for Benign Epilepsy with Centrotemporal Spikes

MalaCards organs/tissues related to Benign Epilepsy with Centrotemporal Spikes:

40
Cortex, Brain, Eye, Tongue

Publications for Benign Epilepsy with Centrotemporal Spikes

Articles related to Benign Epilepsy with Centrotemporal Spikes:

(show top 50) (show all 582)
# Title Authors PMID Year
1
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 61 6
29358611 2018
2
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes. 6 61
23933819 2013
3
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction. 6 61
23933820 2013
4
KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. 6 61
18625963 2008
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
Response to immunotherapy in a patient with Landau-Kleffner syndrome and GRIN2A mutation. 6
26806548 2016
11
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 6
26648591 2016
12
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
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. 6
25741868 2015
14
Improving molecular diagnosis in epilepsy by a dedicated high-throughput sequencing platform. 6
24848745 2015
15
Towards the identification of a genetic basis for Landau-Kleffner syndrome. 6
24828792 2014
16
GRIN2A mutations cause epilepsy-aphasia spectrum disorders. 6
23933818 2013
17
KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2. 6
22884718 2012
18
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. 6
20890276 2010
19
A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions. 6
18640800 2009
20
Identification of a genetic cluster influencing memory performance and hippocampal activity in humans. 6
16537520 2006
21
Effects of levetiracetam and oxcarbazepine monotherapy on intellectual and cognitive development in children with benign epilepsy with centrotemporal spikes. 61
33590471 2021
22
Evaluation of auditory spectral resolution abilities in children with benign epilepsy with centrotemporal spikes using spectral temporally modulated ripple test. 61
33268014 2021
23
Outcome analysis of children with rolandic discharges on EEG: A real-world study. 61
33059311 2020
24
ADHD and ADHD-related neural networks in benign epilepsy with centrotemporal spikes: A systematic review. 61
32916583 2020
25
Rolandic Epilepsy as a Heralding Manifestation of Wilson Disease in a 6-Year-Old Girl. 61
33311898 2020
26
Continuous epileptic negative myoclonus as the first seizure type in atypical benign epilepsy with centrotemporal spikes. 61
33126368 2020
27
Cortical and subcortical volume differences between Benign Epilepsy with Centrotemporal Spikes and Childhood Absence Epilepsy. 61
32634725 2020
28
Resting state signal latency assesses the propagation of intrinsic activations and estimates anti-epileptic effect of levetiracetam in Rolandic epilepsy. 61
32535220 2020
29
Seizures in self-limited epilepsy with centrotemporal spikes: video-EEG documentation. 61
32661641 2020
30
The impact of low-risk genetic variants in self-limited epilepsy with centrotemporal spikes aka Rolandic epilepsy. 61
32702638 2020
31
Oxcarbazepine monotherapy in children with benign epilepsy with centrotemporal spikes improves quality of life. 61
32649517 2020
32
Benign epilepsy with centrotemporal spikes: Is there a thalamocortical network dysfunction present? 61
32416566 2020
33
Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes. 61
32600977 2020
34
Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine. 61
32342646 2020
35
Temporal trends in incidence of Rolandic epilepsy, prevalence of comorbidities and prescribing trends: birth cohort study. 61
31937568 2020
36
Nonlinear Analysis of Visually Normal EEGs to Differentiate Benign Childhood Epilepsy with Centrotemporal Spikes (BECTS). 61
32439999 2020
37
A Comparative Study on the Efficacy of Levetiracetam and Carbamazepine in the Treatment of Rolandic Seizures in Children: An Open-Label Randomized Controlled Trial. 61
33102380 2020
38
Cortical Excitability, Synaptic Plasticity, and Cognition in Benign Epilepsy With Centrotemporal Spikes: A Pilot TMS-EMG-EEG Study. 61
32142025 2020
39
Oromotor, word retrieval, and dichotic listening performance in young adults with previous Rolandic epilepsy. 61
31866100 2020
40
Focal cortical hypermetabolism in atypical benign rolandic epilepsy. 61
32086099 2020
41
The natural history of seizures and neuropsychiatric symptoms in childhood epilepsy with centrotemporal spikes (CECTS). 61
31645314 2020
42
Impact of epilepsy on language and discourse: Two self-limited focal epileptic syndromes of childhood. 61
31805505 2020
43
Frequency-Dependent Interictal Neuromagnetic Activities in Children With Benign Epilepsy With Centrotemporal Spikes: A Magnetoencephalography (MEG) Study. 61
32742261 2020
44
Characterization of Anti-seizure Medication Treatment Pathways in Pediatric Epilepsy Using the Electronic Health Record-Based Common Data Model. 61
32477256 2020
45
TMT-Based Proteomic Analysis of Plasma from Children with Rolandic Epilepsy. 61
33082886 2020
46
Benign Rolandic epilepsy: widespread increases in connectivity in a focal epilepsy syndrome. 61
31829304 2019
47
Language-Related White-Matter-Tract Deficits in Children with Benign Epilepsy with Centrotemporal Spikes: A Retrospective Study. 61
31591839 2019
48
Cortical thinning in benign epilepsy with centrotemporal spikes (BECTS) with or without attention-deficit/hyperactivity (ADHD). 61
31326285 2019
49
High-frequency oscillations in a spectrum of pediatric epilepsies characterized by sleep-activated spikes in scalp EEG. 61
31476703 2019
50
Network analysis of prospective brain development in youth with benign epilepsy with centrotemporal spikes and its relationship to cognition. 61
31347155 2019

Variations for Benign Epilepsy with Centrotemporal Spikes

ClinVar genetic disease variations for Benign Epilepsy with Centrotemporal Spikes:

6 (show top 50) (show all 804)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNQ2 NM_172107.4(KCNQ2):c.1776C>G (p.Ile592Met) SNV Pathogenic 369810 rs201868078 GRCh37: 20:62039877-62039877
GRCh38: 20:63408524-63408524
2 GRIN2A NM_001134407.3(GRIN2A):c.652C>T (p.Gln218Ter) SNV Pathogenic 29732 rs387906637 GRCh37: 16:10032171-10032171
GRCh38: 16:9938314-9938314
3 GRIN2A NM_001134407.3(GRIN2A):c.1945C>G (p.Leu649Val) SNV Pathogenic 39662 rs397514557 GRCh37: 16:9923342-9923342
GRCh38: 16:9829485-9829485
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.1734C>G (p.Tyr578Ter) SNV Pathogenic 411285 rs1060503228 GRCh37: 16:9928005-9928005
GRCh38: 16:9834148-9834148
9 GRIN2A NC_000016.9:g.(?_10273835)_(10274288_?)del Deletion Pathogenic 464050 GRCh37: 16:10273835-10274288
GRCh38:
10 GRIN2A NM_001134407.3(GRIN2A):c.1901G>A (p.Trp634Ter) SNV Pathogenic 532718 rs1555492769 GRCh37: 16:9923386-9923386
GRCh38: 16:9829529-9829529
11 GRIN2A NC_000016.10:g.(?_9849736)_(9849981_?)del Deletion Pathogenic 532725 GRCh37: 16:9943593-9943838
GRCh38: 16:9849736-9849981
12 GRIN2A NC_000016.10:g.(?_9890966)_(9891120_?)del Deletion Pathogenic 532726 GRCh37: 16:9984823-9984977
GRCh38: 16:9890966-9891120
13 GRIN2A NM_001134407.3(GRIN2A):c.1553G>T (p.Arg518Leu) SNV Pathogenic 567708 rs397518470 GRCh37: 16:9934602-9934602
GRCh38: 16:9840745-9840745
14 GRIN2A NM_001134407.3(GRIN2A):c.1334C>A (p.Ser445Ter) SNV Pathogenic 640659 GRCh37: 16:9934956-9934956
GRCh38: 16:9841099-9841099
15 GRIN2A NM_001134407.3(GRIN2A):c.1648del (p.Phe549_Leu550insTer) Deletion Pathogenic 641340 rs1596483044 GRCh37: 16:9934507-9934507
GRCh38: 16:9840650-9840650
16 GRIN2A NM_001134407.3(GRIN2A):c.58_67dup (p.Pro23fs) Duplication Pathogenic 664825 rs1596587476 GRCh37: 16:10274201-10274202
GRCh38: 16:10180344-10180345
17 GRIN2A NM_001134407.3(GRIN2A):c.1447G>A (p.Gly483Arg) SNV Pathogenic 812185 GRCh37: 16:9934843-9934843
GRCh38: 16:9840986-9840986
18 GRIN2A NC_000016.10:g.(?_9798257)_(9849981_?)del Deletion Pathogenic 830906 GRCh37: 16:9892114-9943838
GRCh38:
19 GRIN2A NC_000016.10:g.(?_9829403)_(9829672_?)del Deletion Pathogenic 831053 GRCh37: 16:9923260-9923529
GRCh38:
20 GRIN2A NC_000016.10:g.(?_9890966)_(10180431_?)del Deletion Pathogenic 831099 GRCh37: 16:9984823-10274288
GRCh38:
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 NM_001134407.3(GRIN2A):c.1529dup (p.Ser511fs) Duplication Pathogenic 813782 GRCh37: 16:9934625-9934626
GRCh38: 16:9840768-9840769
24 GRIN2A NM_001134407.3(GRIN2A):c.1939G>T (p.Ala647Ser) SNV Pathogenic 870418 GRCh37: 16:9923348-9923348
GRCh38: 16:9829491-9829491
25 GRIN2A NM_001134407.3(GRIN2A):c.1123-1G>A SNV Pathogenic 839918 GRCh37: 16:9943819-9943819
GRCh38: 16:9849962-9849962
26 GRIN2A NM_001134407.3(GRIN2A):c.1054del (p.Glu352fs) Deletion Pathogenic 917870 GRCh37: 16:9984911-9984911
GRCh38: 16:9891054-9891054
27 GRIN2A NM_001134407.3(GRIN2A):c.2189A>G (p.Tyr730Cys) SNV Pathogenic 917871 GRCh37: 16:9892301-9892301
GRCh38: 16:9798444-9798444
28 GRIN2A NM_001134407.3(GRIN2A):c.45_49TCTGG[1] (p.Val17fs) Microsatellite Pathogenic 917872 GRCh37: 16:10274215-10274219
GRCh38: 16:10180358-10180362
29 GRIN2A NM_001134407.3(GRIN2A):c.1961T>C (p.Ile654Thr) SNV Pathogenic 941334 GRCh37: 16:9923326-9923326
GRCh38: 16:9829469-9829469
30 SNIP1 NM_024700.4(SNIP1):c.331C>T (p.Arg111Cys) SNV Pathogenic 433084 rs202020647 GRCh37: 1:38006353-38006353
GRCh38: 1:37540752-37540752
31 SLC2A1 NM_006516.3(SLC2A1):c.1010A>T (p.His337Leu) SNV Pathogenic 433085 rs1553155982 GRCh37: 1:43394667-43394667
GRCh38: 1:42928996-42928996
32 SCN2A NM_001040142.2(SCN2A):c.2182T>C (p.Cys728Arg) SNV Pathogenic 433097 rs1553574522 GRCh37: 2:166187872-166187872
GRCh38: 2:165331362-165331362
33 SLC6A1 NM_003042.4(SLC6A1):c.830G>A (p.Arg277His) SNV Pathogenic 433100 rs752396911 GRCh37: 3:11067250-11067250
GRCh38: 3:11025564-11025564
34 PRICKLE2 NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) SNV Pathogenic 433101 rs202170644 GRCh37: 3:64132852-64132852
GRCh38: 3:64147176-64147176
35 RELN , LOC101927870 NM_005045.4(RELN):c.9976C>T (p.Arg3326Ter) SNV Pathogenic 433105 rs751409835 GRCh37: 7:103126651-103126651
GRCh38: 7:103486204-103486204
36 RELN NM_005045.4(RELN):c.5791A>G (p.Asn1931Asp) SNV Pathogenic 433106 rs369993428 GRCh37: 7:103197430-103197430
GRCh38: 7:103556983-103556983
37 CPA6 NM_020361.5(CPA6):c.557A>G (p.Lys186Arg) SNV Pathogenic 433109 rs199576384 GRCh37: 8:68419101-68419101
GRCh38: 8:67506866-67506866
38 KCNQ3 NM_004519.4(KCNQ3):c.1142C>T (p.Ala381Val) SNV Pathogenic 433110 rs1554626549 GRCh37: 8:133182674-133182674
GRCh38: 8:132170427-132170427
39 SPTAN1 NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys) SNV Pathogenic 433112 rs780658554 GRCh37: 9:131346591-131346591
GRCh38: 9:128584312-128584312
40 SPTAN1 NM_001130438.3(SPTAN1):c.4852G>A (p.Gly1618Ser) SNV Pathogenic 433114 rs1554759745 GRCh37: 9:131374071-131374071
GRCh38: 9:128611792-128611792
41 SPTAN1 NM_001130438.3(SPTAN1):c.6854A>G (p.Asn2285Ser) SNV Pathogenic 433115 rs1441152520 GRCh37: 9:131394497-131394497
GRCh38: 9:128632218-128632218
42 GRIN1 NM_007327.4(GRIN1):c.2504T>C (p.Ile835Thr) SNV Pathogenic 433116 rs1554770659 GRCh37: 9:140058271-140058271
GRCh38: 9:137163819-137163819
43 CHD2 NM_001271.4(CHD2):c.149G>A (p.Gly50Asp) SNV Pathogenic 433117 rs1555437424 GRCh37: 15:93467637-93467637
GRCh38: 15:92924407-92924407
44 CHD2 NM_001271.4(CHD2):c.4829C>T (p.Ala1610Val) SNV Pathogenic 433118 rs1555445693 GRCh37: 15:93558062-93558062
GRCh38: 15:93014832-93014832
45 RBFOX1 NM_018723.4(RBFOX1):c.538G>A (p.Val180Met) SNV Pathogenic 433119 rs372761949 GRCh37: 16:7645620-7645620
GRCh38: 16:7595618-7595618
46 RBFOX1 NM_018723.4(RBFOX1):c.677-5C>T SNV Pathogenic 415957 rs147023054 GRCh37: 16:7680600-7680600
GRCh38: 16:7630598-7630598
47 RBFOX1 NM_018723.4(RBFOX1):c.979_984del (p.Ala327_Ala328del) Deletion Pathogenic 433120 rs974157467 GRCh37: 16:7726819-7726824
GRCh38: 16:7676817-7676822
48 RBFOX1 NM_018723.4(RBFOX1):c.1057G>A (p.Gly353Ser) SNV Pathogenic 433121 rs145873257 GRCh37: 16:7759119-7759119
GRCh38: 16:7709117-7709117
49 GRIN2A NM_001134407.3(GRIN2A):c.2710A>T (p.Ile904Phe) SNV Pathogenic 433122 rs1555482933 GRCh37: 16:9858691-9858691
GRCh38: 16:9764834-9764834
50 GRIN2A NM_001134407.3(GRIN2A):c.2200G>C (p.Val734Leu) SNV Pathogenic 433123 rs1439688451 GRCh37: 16:9892290-9892290
GRCh38: 16:9798433-9798433

Expression for Benign Epilepsy with Centrotemporal Spikes

Search GEO for disease gene expression data for Benign Epilepsy with Centrotemporal Spikes.

Pathways for Benign Epilepsy with Centrotemporal Spikes

Pathways related to Benign Epilepsy with Centrotemporal Spikes according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.21 SCN9A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
2
Show member pathways
12.44 SCN1A PLCB1 KCNQ3 KCNQ2 GRIN2A
3
Show member pathways
12.39 SCN9A SCN2A SCN1B SCN1A PLCB1 KCNT1
4 12.09 SCN9A SCN2A SCN1B SCN1A RBFOX3 KCNQ2
5 12.06 PLCB1 KCNQ3 KCNQ2 GRIN2A
6
Show member pathways
11.73 SCN9A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
7
Show member pathways
11.71 SCN9A SCN2A PLCB1
8
Show member pathways
11.5 SCN9A SCN2A SCN1B SCN1A
9 10.58 SCN9A SCN2A SCN1B SCN1A KCNQ3 KCNQ2

GO Terms for Benign Epilepsy with Centrotemporal Spikes

Cellular components related to Benign Epilepsy with Centrotemporal Spikes according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.4 TBC1D24 SLC2A1 SCN9A SCN2A SCN1B SCN1A
2 integral component of membrane GO:0016021 10.34 SLC2A1 SCN9A SCN2A SCN1B SCN1A PCDH19
3 plasma membrane GO:0005886 10.29 TBC1D24 SLC2A1 SCN9A SCN2A SCN1B SCN1A
4 cell projection GO:0042995 10.02 TBC1D24 SCN9A SCN1B GRIN2A GABRG2 CNTNAP2
5 integral component of plasma membrane GO:0005887 10.02 SLC2A1 SCN9A SCN2A SCN1B PCDH19 KCNQ3
6 synapse GO:0045202 9.99 TBC1D24 SLC2A1 KCNQ3 KCNQ2 GRIN2A GABRG2
7 axon GO:0030424 9.88 SCN9A SCN2A SCN1B SCN1A GABRG2 CNTNAP2
8 perikaryon GO:0043204 9.73 SCN1B RBFOX3 EPM2A CNTNAP2
9 voltage-gated potassium channel complex GO:0008076 9.71 KCNQ3 KCNQ2 CNTNAP2
10 T-tubule GO:0030315 9.63 SCN2A SCN1B SCN1A
11 intercalated disc GO:0014704 9.56 SLC2A1 SCN2A SCN1B SCN1A
12 axon initial segment GO:0043194 9.5 SCN1A KCNQ3 KCNQ2
13 sodium channel complex GO:0034706 9.33 SCN2A SCN1B SCN1A
14 voltage-gated sodium channel complex GO:0001518 9.26 SCN9A SCN2A SCN1B SCN1A
15 node of Ranvier GO:0033268 9.02 SCN2A SCN1B SCN1A KCNQ3 KCNQ2

Biological processes related to Benign Epilepsy with Centrotemporal Spikes according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 nervous system development GO:0007399 9.95 SCN2A RBFOX3 RBFOX1 KCNQ2 EPM2A
2 transmembrane transport GO:0055085 9.93 SLC2A1 SCN9A SCN2A SCN1A KCNQ3 KCNQ2
3 brain development GO:0007420 9.86 PLCB1 PCDH19 GRIN2A CNTNAP2
4 chemical synaptic transmission GO:0007268 9.84 KCNQ3 KCNQ2 GRIN2A GABRG2
5 regulation of membrane potential GO:0042391 9.76 SCN1A GRIN2A GABRG2
6 sodium ion transport GO:0006814 9.73 SCN9A SCN2A SCN1B SCN1A
7 memory GO:0007613 9.7 SCN2A PLCB1 GRIN2A
8 cerebral cortex development GO:0021987 9.69 SLC2A1 PLCB1 CNTNAP2
9 sodium ion transmembrane transport GO:0035725 9.67 SCN9A SCN2A SCN1B SCN1A
10 regulation of ion transmembrane transport GO:0034765 9.63 SCN9A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
11 cation transmembrane transport GO:0098655 9.62 SCN9A SCN2A SCN1A GRIN2A
12 ion transport GO:0006811 9.61 SCN9A SCN2A SCN1B SCN1A KCNT1 KCNQ3
13 cardiac muscle cell action potential involved in contraction GO:0086002 9.58 SCN1B SCN1A
14 neuronal action potential GO:0019228 9.58 SCN9A SCN2A SCN1A
15 glutamate receptor signaling pathway GO:0007215 9.57 PLCB1 GRIN2A
16 locomotion GO:0040011 9.49 SCN1B GRIN2A
17 neuronal action potential propagation GO:0019227 9.48 SCN1B SCN1A
18 membrane depolarization during action potential GO:0086010 9.43 SCN9A SCN2A SCN1A
19 ion transmembrane transport GO:0034220 9.23 SCN9A SCN2A SCN1B SCN1A KCNQ3 KCNQ2

Molecular functions related to Benign Epilepsy with Centrotemporal Spikes according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 9.62 SCN9A SCN2A SCN1A GRIN2A
2 sodium channel activity GO:0005272 9.56 SCN9A SCN2A SCN1B SCN1A
3 potassium channel activity GO:0005267 9.54 KCNT1 KCNQ3 KCNQ2
4 voltage-gated sodium channel activity GO:0005248 9.46 SCN9A SCN2A SCN1B SCN1A
5 voltage-gated ion channel activity GO:0005244 9.43 SCN9A SCN2A SCN1B SCN1A KCNQ3 KCNQ2
6 ion channel activity GO:0005216 9.17 SCN9A SCN2A SCN1A KCNQ3 KCNQ2 GRIN2A

Sources for Benign Epilepsy with Centrotemporal Spikes

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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