BRE
MCID: BNG009
MIFTS: 59

Benign Epilepsy with Centrotemporal Spikes (BRE)

Categories: Genetic diseases, Neuronal diseases, Oral diseases, Rare diseases
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Aliases & Classifications for Benign Epilepsy with Centrotemporal Spikes

MalaCards integrated aliases for Benign Epilepsy with Centrotemporal Spikes:

Name: Benign Epilepsy with Centrotemporal Spikes 11 14
Rolandic Epilepsy 11 58 5 75
Benign Rolandic Epilepsy 11 58 71
Epilepsy, Rolandic 43 38 71
Benign Familial Epilepsy of Childhood with Rolandic Spikes 58
Benign Epilepsy of Childhood with Centrotemporal Spikes 58
Benign Childhood Epilepsy with Centrotemporal Spike 11
Centrotemporal Epilepsy 58
Sylvan Seizures 11
Bcects 11
Bects 58
Becrs 58
Bre 58

Characteristics:


Inheritance:

Rolandic Epilepsy: Autosomal dominant 58

Prevelance:

Rolandic Epilepsy: 1-5/10000 (Sweden) 58

Age Of Onset:

Rolandic Epilepsy: Childhood 58

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 11 DOID:3329
MeSH 43 D019305
ICD10 via Orphanet 32 G40.0
UMLS via Orphanet 72 C0376532 C2363129
Orphanet 58 ORPHA1945
UMLS 71 C0376532 C2363129

Summaries for Benign Epilepsy with Centrotemporal Spikes

Orphanet: 58 Rolandic epilepsy (RE) is a focal childhood epilepsy characterized by seizures consisting of unilateral facial sensory-motor symptoms, with electroencephalogram (EEG) showing sharp biphasic waves over the rolandic region. It is an age-related epilepsy, with excellent outcome.

MalaCards based summary: Benign Epilepsy with Centrotemporal Spikes, also known as rolandic epilepsy, is related to epilepsy, focal, with speech disorder and with or without impaired intellectual development 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 G-Beta Gamma Signaling and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Valproic acid and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and cortex, and related phenotypes are eeg with centrotemporal focal spike waves and sleep apnea

Disease Ontology: 11 A childhood electroclinical syndrome characterized by partial seizures involving the rolandic area of the brain and electroencephalographic centrotemporal sharp waves.

Wikipedia: 75 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 217)
# Related Disease Score Top Affiliating Genes
1 epilepsy, focal, with speech disorder and with or without impaired intellectual development 33.4 GRIN2A DEPDC5
2 epilepsy 33.1 TBC1D24 SNIP1 SLC6A1 SLC2A1 SCN9A SCN2A
3 focal epilepsy 32.1 SCN2A SCN1A RBFOX3 PCDH19 KCNT1 GRIN2A
4 childhood absence epilepsy 32.1 TBC1D24 SLC6A1 SLC2A1 SCN2A SCN1B SCN1A
5 attention deficit-hyperactivity disorder 31.9 SLC6A1 SCN2A SCN1A RELN RBFOX3 RBFOX1
6 epilepsy, idiopathic generalized 31.5 SLC6A1 SLC2A1 SCN9A SCN2A SCN1B SCN1A
7 epilepsy, myoclonic juvenile 31.5 SLC6A1 SLC2A1 SCN2A SCN1B SCN1A PCDH19
8 early myoclonic encephalopathy 31.5 TBC1D24 SLC6A1 SLC2A1 SCN2A SCN1B SCN1A
9 continuous spike-wave during slow sleep syndrome 31.4 GRIN2A DEPDC5
10 partial motor epilepsy 31.4 SCN2A SCN1A PCDH19 KCNT1 GABRG2 DEPDC5
11 benign familial neonatal epilepsy 31.4 SCN2A SCN1B SCN1A PCDH19 KCNT1 KCNQ3
12 benign neonatal seizures 31.4 TBC1D24 SCN2A SCN1B SCN1A PCDH19 KCNT1
13 landau-kleffner syndrome 31.4 SCN2A SCN1A PCDH19 GRIN2A GRIN1 GABRG2
14 migraine with or without aura 1 31.4 SCN9A SCN2A SCN1A KCNQ3 GRIN2A
15 status epilepticus 31.4 SCN1A PCDH19 GRIN1
16 juvenile absence epilepsy 31.3 SCN1A GABRG2
17 autism spectrum disorder 31.2 SLC6A1 SCN2A SCN1A RELN RBFOX1 PCDH19
18 speech disorder 31.2 GRIN2A GRIN1 CNTNAP2
19 autism 31.1 SLC6A1 SCN9A SCN2A SCN1A RELN RBFOX1
20 photosensitive epilepsy 31.1 SCN2A SCN1A PCDH19 KCNT1 KCNQ3 GABRG2
21 autosomal dominant nocturnal frontal lobe epilepsy 31.0 SCN2A SCN1B SCN1A PCDH19 KCNT1 KCNQ3
22 lennox-gastaut syndrome 31.0 TBC1D24 SLC6A1 SLC2A1 SCN9A SCN2A SCN1B
23 pervasive developmental disorder 30.9 SCN2A SCN1A RELN RBFOX3 RBFOX1 GRIN2A
24 febrile seizures 30.9 SCN9A SCN2A SCN1B SCN1A GRIN1 GABRG2
25 febrile seizures, familial, 8 30.8 SCN1B SCN1A GABRG2
26 temporal lobe epilepsy 30.7 SCN1B RELN GRIN1
27 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 11.7
28 rolandic epilepsy, impaired intellectual development, and speech dyspraxia, x-linked 11.6
29 rolandic epilepsy-speech dyspraxia syndrome 11.4
30 centralopathic epilepsy 11.1
31 convulsions, familial infantile, with paroxysmal choreoathetosis 11.1
32 episodic kinesigenic dyskinesia 1 11.1
33 epilepsy-aphasia spectrum 11.1
34 developmental and epileptic encephalopathy 10.8 TBC1D24 SLC6A1 SLC2A1 SCN9A SCN2A SCN1B
35 west syndrome 10.8 TBC1D24 SLC6A1 SLC2A1 SCN9A SCN2A SCN1B
36 dravet syndrome 10.8 TBC1D24 SLC6A1 SLC2A1 SCN9A SCN2A SCN1B
37 early infantile epileptic encephalopathy 10.8 TBC1D24 SLC6A1 SLC2A1 SCN9A SCN2A SCN1B
38 childhood electroclinical syndrome 10.8 SLC6A1 SLC2A1 SCN2A SCN1B SCN1A PCDH19
39 generalized epilepsy with febrile seizures plus 10.8 SCN9A SCN2A SCN1B SCN1A PCDH19 KCNT1
40 benign familial infantile epilepsy 10.8 SLC2A1 SCN9A SCN2A SCN1B SCN1A PCDH19
41 congenital nervous system abnormality 10.7 TBC1D24 SLC2A1 SCN2A SCN1A RELN RBFOX3
42 neonatal period electroclinical syndrome 10.7 TBC1D24 SCN2A SCN1B SCN1A PCDH19 KCNT1
43 familial febrile seizures 10.7 TBC1D24 SCN9A SCN2A SCN1B SCN1A PCDH19
44 early onset absence epilepsy 10.7 SLC6A1 SLC2A1 SCN2A SCN1B SCN1A KCNQ3
45 progressive myoclonus epilepsy 10.7 TBC1D24 SCN2A SCN1B SCN1A PCDH19 KCNT1
46 nervous system disease 10.7 TBC1D24 SLC2A1 SCN9A SCN2A SCN1A RBFOX3
47 schizophrenia 10.7 SLC6A1 SLC2A1 SCN2A RELN RBFOX1 GRIN2A
48 adolescence-adult electroclinical syndrome 10.7 SCN2A SCN1B SCN1A PCDH19 KCNQ3 GABRG2
49 infancy electroclinical syndrome 10.7 SCN2A SCN1B SCN1A PCDH19 KCNT1 KCNQ3
50 epilepsy, familial temporal lobe, 1 10.7 SCN1B SCN1A RELN GABRG2 DEPDC5 CNTNAP2

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 30 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 eeg with centrotemporal focal spike waves 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0012557
2 sleep apnea 58 30 Frequent (33%) Frequent (79-30%)
HP:0010535
3 drooling 58 30 Frequent (33%) Frequent (79-30%)
HP:0002307
4 speech articulation difficulties 58 30 Frequent (33%) Frequent (79-30%)
HP:0009088
5 laryngospasm 58 30 Frequent (33%) Frequent (79-30%)
HP:0025425
6 bilateral tonic-clonic seizure with focal onset 30 Frequent (33%) HP:0007334
7 focal hemifacial clonic seizure 30 Frequent (33%) HP:0007332
8 depression 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000716
9 attention deficit hyperactivity disorder 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0007018
10 anxiety 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000739
11 specific learning disability 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001328
12 paresthesia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0003401
13 migraine 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002076
14 intellectual disability, borderline 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0006889
15 dysesthesia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0012534
16 emotional lability 30 Occasional (7.5%) HP:0000712
17 febrile seizure (within the age range of 3 months to 6 years) 30 Occasional (7.5%) HP:0002373
18 eeg with irregular generalized spike and wave complexes 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001326
19 atypical absence seizure 58 30 Very rare (1%) Very rare (<4-1%)
HP:0007270
20 short attention span 58 Occasional (29-5%)
21 febrile seizures 58 Occasional (29-5%)
22 mood changes 58 Occasional (29-5%)
23 generalized tonic-clonic seizures with focal onset 58 Frequent (79-30%)
24 focal seizures, afebril 58 Frequent (79-30%)
25 hemifacial seizures 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Benign Epilepsy with Centrotemporal Spikes:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.28 CNTNAP2 DEPDC5 GABRG2 GRIN1 GRIN2A KCNQ3
2 behavior/neurological MP:0005386 10.13 CNTNAP2 DEPDC5 GABRG2 GRIN1 GRIN2A KCNQ3
3 growth/size/body region MP:0005378 10.1 CNTNAP2 DEPDC5 GABRG2 GRIN1 KCNQ3 RBFOX1
4 mortality/aging MP:0010768 9.5 DEPDC5 GABRG2 GRIN1 KCNQ3 KCNT1 RBFOX1
5 taste/olfaction MP:0005394 9.26 CNTNAP2 GRIN1 SCN9A SLC6A1

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
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
2
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
3
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
4
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
6
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
7
Oxcarbazepine Approved Phase 4 28721-07-5 34312
8
Topiramate Approved Phase 4 97240-79-4 5284627
9
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
10
Levetiracetam Approved Phase 4 102767-28-2 441341 5284583
11
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7 4897
12 Antineoplastic Agents, Hormonal Phase 4
13 Neurotransmitter Agents Phase 4
14 Hormones Phase 4
15 Hormone Antagonists Phase 4
16 glucocorticoids Phase 4
17 Anti-Inflammatory Agents Phase 4
18
Methylprednisolone Acetate Phase 4 584547
19 Hypoglycemic Agents Phase 4
20 Sodium Channel Blockers Phase 4
21 Psychotropic Drugs Phase 4
22 Anticonvulsants Phase 4
23 Nootropic Agents 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 20)
# Name Status NCT ID Phase Drugs
1 Electroclinical Effect of Steroid in Patients With Benign Childhood Epilepsy With Centrotemporal Spikes Unknown status NCT03490487 Phase 4 conventional antiepileptic drugs;oral steroid
2 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
3 Efficacy of Levetiracetam for Language Dysfunction Associated With Benign Epilepsy With Centrotemporal Spikes Completed NCT00181116 Phase 4 Levetiracetam
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 Scholar Performance and Praxis Assessment in Children With Rolandic Epilepsy Unknown status NCT01046760
8 Rolandic Epilepsy Genomewide Association International Study Unknown status NCT03547050
9 Genetics of Rolandic Epilepsy Unknown status NCT00282854
10 Facial Emotion Decoding in Benign Partial Epilepsy of Childhood With Centrotemporal Spikes Unknown status NCT03465566
11 Sleep Related Memory Consolidation in Children With Age Related Focal Epilepsy. Unknown status NCT03865771
12 Intrauterine Growth Restriction Has an Impact on Amplitude-integrated EEG in Preterm Infants Unknown status NCT01942525
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 Association of Processing Speed Dysfunction and Brain Functional Abnormality in Childhood Epilepsy With Centrotemporal Spikes Completed NCT04954729
16 Dynamic Regional Brain Maturation in Children With Localization Related Epilepsy Completed NCT02648529
17 18F-FDG PET Imaging Analysis of Antiepileptic Drug Response in Benign Epilepsy With Centrotemporal Spikes Patients Completed NCT04357236
18 Auditory Stimulation Effect on Spindles and Sleep Dependent Learning in Rolandic Epilepsy Recruiting NCT04569708
19 Impact of Repetitive Transcranial Magnetic Stimulation (TMS) on Spike Frequency and Brain Connectivity in Children With Benign Epilepsy With Centrotemporal Spike (BECTS) Recruiting NCT04325282
20 Clinical Validation of zEEG, a Wireless EEG Recording System for Pediatric and Adult Patients With Epilepsy Not yet recruiting NCT05123469

Search NIH Clinical Center for Benign Epilepsy with Centrotemporal Spikes

Cochrane evidence based reviews: epilepsy, rolandic

Genetic Tests for Benign Epilepsy with Centrotemporal Spikes

Anatomical Context for Benign Epilepsy with Centrotemporal Spikes

Organs/tissues related to Benign Epilepsy with Centrotemporal Spikes:

MalaCards : Brain, Temporal Lobe, Cortex, Occipital Lobe, Salivary Gland, Thalamus, Eye

Publications for Benign Epilepsy with Centrotemporal Spikes

Articles related to Benign Epilepsy with Centrotemporal Spikes:

(show top 50) (show all 841)
# Title Authors PMID Year
1
Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 62 5
29358611 2018
2
Brain magnetic resonance imaging findings and brain volumetric differences in a large series of benign rolandic epilepsy. 62
35467439 2022
3
Correction to: Interictal epileptiform discharges changed epilepsy-related brain network architecture in BECTS. 62
36264530 2022
4
Genotype and phenotype analysis of epilepsy caused by ADGRV1 mutations in Chinese children. 62
36399868 2022
5
Correction to: Reliability and availability of granger causality density in localization of Rolandic focus in BECTS. 62
36352308 2022
6
EMD-WOG-2DCNN based EEG signal processing for Rolandic seizure classification. 62
35044293 2022
7
Structural and functional changes in drug-naïve benign childhood epilepsy with centrotemporal spikes and their associated gene expression profiles. 62
36444721 2022
8
Functional connectivity differences in speech production networks in Chinese children with Rolandic epilepsy. 62
35835716 2022
9
CELSR1 variants are associated with partial epilepsy of childhood. 62
36453712 2022
10
Corrigendum to "Brain network excitatory/inhibitory imbalance is a biomarker for drug-naive Rolandic epilepsy: A radiomics strategy". [Epilepsia 2021, 62 (10): 2426-2438]. 62
36308421 2022
11
Functional connectivity differences in speech production networks in Chinese children with Rolandic epilepsy. 62
35973912 2022
12
Rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: a case report. 62
36087149 2022
13
Disrupted functional connectivity patterns of the left inferior frontal gyrus subregions in benign childhood epilepsy with centrotemporal spikes. 62
36247884 2022
14
Protocol for spike-triggered closed-loop auditory stimulation during sleep in patients with epilepsy. 62
35942345 2022
15
Abnormal percent amplitude of fluctuation and functional connectivity within and between networks in benign epilepsy with centrotemporal spikes. 62
35917746 2022
16
COVID-19 vaccination for patients with benign childhood epilepsy with centrotemporal spikes. 62
35952506 2022
17
Whole-Brain Dynamic Resting-State Functional Network Analysis in Benign Epilepsy With Centrotemporal Spikes. 62
35380976 2022
18
Childhood Absence Epilepsy Associated With Concomitant Centrotemporal Spikes. 62
36176877 2022
19
Resting-State EEG Functional Connectivity in Children with Rolandic Spikes with or without Clinical Seizures. 62
35884857 2022
20
One Child's Struggle in School: A Case Report of a Diagnosis of Seizures. 62
35260327 2022
21
Repetitive transcranial magnetic stimulation to treat benign epilepsy with centrotemporal spikes. 62
35427811 2022
22
Interictal epileptiform discharges changed epilepsy-related brain network architecture in BECTS. 62
34677785 2022
23
Epileptic negative myoclonus in herpes simplex virus encephalitis. 62
34933834 2022
24
Electrical status epilepticus during sleep (ESES) in benign childhood epilepsy with Centrotemporal spikes (BCECTS): insights into predictive factors, and clinical and EEG outcomes. 62
35363337 2022
25
Influence of epileptogenic region on brain structural changes in Rolandic epilepsy. 62
34420145 2022
26
Biallelic ADGRV1 variants are associated with Rolandic epilepsy. 62
34160719 2022
27
Alterations in the default mode network in rolandic epilepsy with mild spike-wave index in non-rapid eye movement sleep. 62
36017188 2022
28
Transient, developmental functional and structural connectivity abnormalities in the thalamocortical motor network in Rolandic epilepsy. 62
35777251 2022
29
Source EEG reveals that Rolandic epilepsy is a regional epileptic encephalopathy. 62
35151039 2022
30
SCN1A-Related Epilepsy: Novel Mutations and Rare Phenotypes. 62
35663268 2022
31
Anti-Seizure Medication Treatment of Benign Childhood Epilepsy With Centrotemporal Spikes: A Systematic Review and Meta-analysis. 62
35359874 2022
32
Retrospective Study of the Relationship between Variable Benign Epilepsy of Childhood with Centrotemporal Spikes and the Changes of Zinc, MRS, VEEG, and IQ Test. 62
35855849 2022
33
Brain metabolic characteristics distinguishing typical and atypical benign epilepsy with centro-temporal spikes. 62
34050803 2021
34
Delayed brain development of Rolandic epilepsy profiled by deep learning-based neuroanatomic imaging. 62
34018056 2021
35
Auditory stimulation during sleep suppresses spike activity in benign epilepsy with centrotemporal spikes. 62
34841286 2021
36
Alterations in white matter integrity and asymmetry in patients with benign childhood epilepsy with centrotemporal spikes and childhood absence epilepsy: An automated fiber quantification tractography study. 62
34411950 2021
37
Effects of levetiracetam and oxcarbazepine monotherapy on intellectual and cognitive development in children with benign epilepsy with centrotemporal spikes. 62
33590471 2021
38
Brain network excitatory/inhibitory imbalance is a biomarker for drug-naive Rolandic epilepsy: A radiomics strategy. 62
34346086 2021
39
Measuring the effects of sleep on epileptogenicity with multifrequency entropy. 62
34284235 2021
40
Sulthiame monotherapy for epilepsy. 62
34554571 2021
41
Altered functional connectivity in newly diagnosed benign epilepsy with unilateral or bilateral centrotemporal spikes: A multi-frequency MEG study. 62
34547687 2021
42
Differential Clinical Features in Colombian Patients With Rolandic Epilepsy and Suggestion of Unlikely Association With GRIN2A, RBFOX1, or RBFOX3 Gene Variants. 62
34039076 2021
43
Clinical and electrophysiological predictors of behavioral disorders in patients with benign childhood epilepsy with centrotemporal spikes. 62
34058495 2021
44
Evaluation of candidate genes in a Chinese cohort of atypical Rolandic epilepsy. 62
34279234 2021
45
Rolandic Epilepsy - A Silent Enemy. An Instructive Case. 62
34513368 2021
46
Reliability and availability of granger causality density in localization of Rolandic focus in BECTS. 62
32737823 2021
47
The attention networks in benign epilepsy with centrotemporal spikes: A long-term follow-up study. 62
33992188 2021
48
Neurodevelopmental origins of self-limiting rolandic epilepsy: Systematic review of MR imaging studies. 62
34033258 2021
49
Ictal Hypersalivation and Salivary Gland Enlargement in a Patient With Acquired Frontal Lobe Epilepsy. 62
34221768 2021
50
A Systematic Review of Seizure-Freedom Rates in Patients With Benign Epilepsy of Childhood With Centrotemporal Spikes Receiving Antiepileptic Drugs. 62
33605607 2021

Variations for Benign Epilepsy with Centrotemporal Spikes

ClinVar genetic disease variations for Benign Epilepsy with Centrotemporal Spikes:

5 (show top 50) (show all 112)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DEPDC5 NM_001242896.3(DEPDC5):c.814G>T (p.Val272Leu) SNV Pathogenic
264752 rs187334123 GRCh37: 22:32193632-32193632
GRCh38: 22:31797646-31797646
2 DEPDC5 NM_001242896.3(DEPDC5):c.268G>A (p.Val90Ile) SNV Pathogenic
264750 rs768456731 GRCh37: 22:32161035-32161035
GRCh38: 22:31765049-31765049
3 SCN1B NM_001037.5(SCN1B):c.472G>C (p.Val158Leu) SNV Pathogenic
433138 rs138450474 GRCh37: 19:35530044-35530044
GRCh38: 19:35039140-35039140
4 GRIN2A NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) SNV Pathogenic
129189 rs587780353 GRCh37: 16:10032276-10032276
GRCh38: 16:9938419-9938419
5 TBC1D24 NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) SNV Pathogenic
195364 rs202162520 GRCh37: 16:2546318-2546318
GRCh38: 16:2496317-2496317
6 CHD2 NM_001271.4(CHD2):c.4058C>T (p.Pro1353Leu) SNV Pathogenic
425079 rs755088564 GRCh37: 15:93543791-93543791
GRCh38: 15:93000561-93000561
7 PRICKLE1 NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) SNV Pathogenic
130027 rs79087668 GRCh37: 12:42863266-42863266
GRCh38: 12:42469464-42469464
8 PRICKLE1 NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) SNV Pathogenic
198918 rs138452760 GRCh37: 12:42853891-42853891
GRCh38: 12:42460089-42460089
9 KCNT1 NM_020822.3(KCNT1):c.3641G>A (p.Arg1214Gln) SNV Pathogenic
211244 rs138282349 GRCh37: 9:138683940-138683940
GRCh38: 9:135792094-135792094
10 SPTAN1 NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) SNV Pathogenic
196861 rs143166100 GRCh37: 9:131370267-131370267
GRCh38: 9:128607988-128607988
11 SPTAN1 NM_001130438.3(SPTAN1):c.3720-5T>G SNV Pathogenic
167720 rs200543425 GRCh37: 9:131367308-131367308
GRCh38: 9:128605029-128605029
12 SPTAN1 NM_001130438.3(SPTAN1):c.3673C>T (p.Arg1225Trp) SNV Pathogenic
433113 rs569997507 GRCh37: 9:131366650-131366650
GRCh38: 9:128604371-128604371
13 SPTAN1 NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) SNV Pathogenic
159993 rs144787939 GRCh37: 9:131341997-131341997
GRCh38: 9:128579718-128579718
14 KCNQ3 NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) SNV Pathogenic
206003 rs185511111 GRCh37: 8:133142243-133142243
GRCh38: 8:132129996-132129996
15 KCNQ3 NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) SNV Pathogenic
205988 rs150821246 GRCh37: 8:133141865-133141865
GRCh38: 8:132129618-132129618
16 ASAH1 NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro) SNV Pathogenic
433108 rs147896487 GRCh37: 8:17942276-17942276
GRCh38: 8:18084767-18084767
17 CNTNAP2 NM_014141.6(CNTNAP2):c.3577G>A (p.Ala1193Thr) SNV Pathogenic
433107 rs751491210 GRCh37: 7:148080842-148080842
GRCh38: 7:148383750-148383750
18 CNTNAP2 NM_014141.6(CNTNAP2):c.755-5C>T SNV Pathogenic
136809 rs369675346 GRCh37: 7:146818066-146818066
GRCh38: 7:147120974-147120974
19 RELN NM_005045.4(RELN):c.139G>A (p.Glu47Lys) SNV Pathogenic
95211 rs139648092 GRCh37: 7:103629665-103629665
GRCh38: 7:103989218-103989218
20 GABRG2 NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln) SNV Pathogenic
60708 rs397514737 GRCh37: 5:161576159-161576159
GRCh38: 5:162149153-162149153
21 SCARB2 NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln) SNV Pathogenic
206722 rs368906199 GRCh37: 4:77134617-77134617
GRCh38: 4:76213464-76213464
22 SCARB2 NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) SNV Pathogenic
206715 rs147324129 GRCh37: 4:77091123-77091123
GRCh38: 4:76169970-76169970
23 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg) SNV Pathogenic
433099 rs201338643 GRCh37: 2:167141091-167141091
GRCh38: 2:166284581-166284581
24 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.1979C>T (p.Thr660Met) SNV Pathogenic
433098 rs200965749 GRCh37: 2:167138314-167138314
GRCh38: 2:166281804-166281804
25 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) SNV Pathogenic
130260 rs199692186 GRCh37: 2:167129258-167129258
GRCh38: 2:166272748-166272748
26 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) SNV Pathogenic
194737 rs200817435 GRCh37: 2:167128911-167128911
GRCh38: 2:166272401-166272401
27 SCN1A-AS1, SCN9A NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) SNV Pathogenic
195592 rs180922748 GRCh37: 2:167089942-167089942
GRCh38: 2:166233432-166233432
28 SCN1A NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) SNV Pathogenic
68588 rs121918817 GRCh37: 2:166901590-166901590
GRCh38: 2:166045080-166045080
29 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) SNV Pathogenic
68616 rs121918799 GRCh37: 2:166872146-166872146
GRCh38: 2:166015636-166015636
30 SZT2 NM_001365999.1(SZT2):c.5515C>T (p.Arg1839Cys) SNV Pathogenic
433091 rs147748994 GRCh37: 1:43898260-43898260
GRCh38: 1:43432589-43432589
31 CPA6 NM_020361.5(CPA6):c.557A>G (p.Lys186Arg) SNV Pathogenic
433109 rs199576384 GRCh37: 8:68419101-68419101
GRCh38: 8:67506866-67506866
32 CNTNAP2 NM_014141.6(CNTNAP2):c.2651G>A (p.Arg884Gln) SNV Pathogenic
205271 rs758630057 GRCh37: 7:147844679-147844679
GRCh38: 7:148147587-148147587
33 RELN NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) SNV Pathogenic
130118 rs3025962 GRCh37: 7:103251218-103251218
GRCh38: 7:103610771-103610771
34 LOC102724428 NM_001320643.3(LOC102724428):c.379C>T (p.Arg127Trp) SNV Pathogenic
433140 rs1555841977 GRCh37: 21:44841638-44841638
GRCh38: 21:6116503-6116503
35 STRADA NM_001003787.4(STRADA):c.179G>T (p.Ser60Ile) SNV Pathogenic
433135 rs56271007 GRCh37: 17:61791413-61791413
GRCh38: 17:63714053-63714053
36 MAF, WWOX NM_016373.4(WWOX):c.1222C>T (p.Arg408Trp) SNV Pathogenic
433132 rs144234059 GRCh37: 16:79245670-79245670
GRCh38: 16:79211773-79211773
37 WWOX NM_016373.4(WWOX):c.990C>G (p.Asn330Lys) SNV Pathogenic
433131 rs117209694 GRCh37: 16:78466583-78466583
GRCh38: 16:78432686-78432686
38 WWOX NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) SNV Pathogenic
380943 rs75559202 GRCh37: 16:78458915-78458915
GRCh38: 16:78425018-78425018
39 KCNQ3 NM_004519.4(KCNQ3):c.1000G>A (p.Ala334Thr) SNV Pathogenic
433111 rs1381851622 GRCh37: 8:133186530-133186530
GRCh38: 8:132174283-132174283
40 CNTNAP2 NM_014141.6(CNTNAP2):c.2147A>G (p.Tyr716Cys) SNV Pathogenic
205258 rs760930032 GRCh37: 7:147600705-147600705
GRCh38: 7:147903613-147903613
41 CNTNAP2 NM_014141.6(CNTNAP2):c.1249G>T (p.Asp417Tyr) SNV Pathogenic
205236 rs147815978 GRCh37: 7:146829502-146829502
GRCh38: 7:147132410-147132410
42 SZT2 NM_001365999.1(SZT2):c.8939C>T (p.Thr2980Ile) SNV Pathogenic
433096 rs766294629 GRCh37: 1:43911872-43911872
GRCh38: 1:43446201-43446201
43 SZT2 NM_001365999.1(SZT2):c.7887G>A (p.Met2629Ile) SNV Pathogenic
433094 rs748723710 GRCh37: 1:43907952-43907952
GRCh38: 1:43442281-43442281
44 CPA6 NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) SNV Pathogenic
393467 rs35993949 GRCh37: 8:68419039-68419039
GRCh38: 8:67506804-67506804
45 ARFGEF1-DT, CPA6 NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) SNV Pathogenic
281269 rs61738009 GRCh37: 8:68396042-68396042
GRCh38: 8:67483807-67483807
46 CHD2 NM_001271.4(CHD2):c.4829C>T (p.Ala1610Val) SNV Pathogenic
433118 rs1555445693 GRCh37: 15:93558062-93558062
GRCh38: 15:93014832-93014832
47 CHD2 NM_001271.4(CHD2):c.149G>A (p.Gly50Asp) SNV Pathogenic
433117 rs1555437424 GRCh37: 15:93467637-93467637
GRCh38: 15:92924407-92924407
48 PRICKLE1 NM_153026.3(PRICKLE1):c.100G>A (p.Ala34Thr) SNV Pathogenic
418596 rs781255236 GRCh37: 12:42866219-42866219
GRCh38: 12:42472417-42472417
49 GRIN1 NM_007327.4(GRIN1):c.2504T>C (p.Ile835Thr) SNV Pathogenic
433116 rs1554770659 GRCh37: 9:140058271-140058271
GRCh38: 9:137163819-137163819
50 SPTAN1 NM_001130438.3(SPTAN1):c.6854A>G (p.Asn2285Ser) SNV Pathogenic
433115 rs1441152520 GRCh37: 9:131394497-131394497
GRCh38: 9:128632218-128632218

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:

(show all 12)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.4 SCN9A SCN2A SCN1B SCN1A
2
Show member pathways
12.29 SCN9A SCN2A SCN1B SCN1A KCNT1 GRIN2A
3 12.09 SCN9A SCN2A SCN1B SCN1A RBFOX3 GRIN2A
4
Show member pathways
12 KCNQ3 SCN1A SCN1B SCN2A SCN9A
5 11.82 SLC2A1 GRIN2A GRIN1
6
Show member pathways
11.8 SLC6A1 GRIN2A GRIN1 GABRG2
7
Show member pathways
11.78 SCN9A SCN2A SCN1B
8 11.29 SCN2A SCN1A GRIN2A
9 11.09 SCN9A SCN2A SCN1B SCN1A
10 10.91 SCN1B SCN1A PCDH19
11
Show member pathways
10.71 SLC6A1 GABRG2
12 10.51 SCN9A SCN2A SCN1B SCN1A KCNQ3

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 16)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016021 10.63 CNTNAP2 DEPDC5 GABRG2 GRIN1 GRIN2A KCNQ3
2 membrane GO:0016020 10.63 CNTNAP2 DEPDC5 GABRG2 GRIN1 GRIN2A KCNQ3
3 plasma membrane GO:0005887 10.33 GABRG2 GRIN1 GRIN2A KCNQ3 PCDH19 SCN1B
4 plasma membrane GO:0005886 10.33 GABRG2 GRIN1 GRIN2A KCNQ3 PCDH19 SCN1B
5 synapse GO:0045202 10.16 GABRG2 GRIN1 GRIN2A KCNQ3 SLC2A1 SLC6A1
6 neuron projection GO:0043005 10.13 SLC6A1 SCN9A RELN GRIN2A GRIN1 GABRG2
7 axon GO:0030424 10.13 CNTNAP2 GABRG2 SCN1A SCN1B SCN2A SCN9A
8 cell projection GO:0042995 10.02 TBC1D24 SLC6A1 SCN9A SCN1B GRIN2A GABRG2
9 postsynaptic membrane GO:0045211 10.01 SLC6A1 GRIN2A GRIN1 GABRG2
10 T-tubule GO:0030315 9.99 SCN2A SCN1B SCN1A
11 intercalated disc GO:0014704 9.97 SLC2A1 SCN2A SCN1B SCN1A
12 anchoring junction GO:0070161 9.89 TBC1D24 GRIN2A GRIN1 GABRG2 CNTNAP2
13 NMDA selective glutamate receptor complex GO:0017146 9.83 GRIN2A GRIN1
14 sodium channel complex GO:0034706 9.56 SCN2A SCN1B SCN1A
15 voltage-gated sodium channel complex GO:0001518 9.56 SCN9A SCN2A SCN1B SCN1A
16 node of Ranvier GO:0033268 9.23 SCN2A SCN1B SCN1A KCNQ3

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 10.25 RELN PCDH19 GRIN2A GRIN1 CNTNAP2
2 chemical synaptic transmission GO:0007268 10.24 GABRG2 GRIN1 GRIN2A KCNQ3 SLC6A1
3 sodium ion transport GO:0006814 10.02 SCN9A SCN2A SCN1B SCN1A
4 regulation of monoatomic ion transmembrane transport GO:0034765 10.02 SCN9A SCN2A SCN1B SCN1A KCNQ3
5 sodium ion transmembrane transport GO:0035725 10.02 SLC6A1 SCN9A SCN2A SCN1B SCN1A
6 neuronal action potential GO:0019228 10 SCN9A SCN2A SCN1A
7 transmembrane transport GO:0055085 9.99 SLC6A1 SLC2A1 SCN9A SCN2A SCN1A KCNQ3
8 regulation of membrane potential GO:0042391 9.97 SCN1A GRIN2A GRIN1 GABRG2
9 positive regulation of synaptic transmission, glutamatergic GO:0051968 9.93 GRIN1 GRIN2A RELN
10 membrane depolarization during action potential GO:0086010 9.91 SCN9A SCN2A SCN1A
11 excitatory chemical synaptic transmission GO:0098976 9.89 GRIN2A GRIN1
12 calcium ion transmembrane import into cytosol GO:0097553 9.88 GRIN2A GRIN1
13 neuronal action potential propagation GO:0019227 9.87 SCN1B SCN1A
14 regulation of monoatomic cation transmembrane transport GO:1904062 9.86 GRIN2A GRIN1
15 positive regulation of excitatory postsynaptic potential GO:2000463 9.86 GRIN1 GRIN2A RELN TBC1D24
16 learning GO:0007612 9.8 SLC6A1 RELN GRIN2A CNTNAP2
17 locomotion GO:0040011 9.76 SCN1B GRIN2A
18 monoatomic cation transmembrane transport GO:0098655 9.7 SCN9A SCN2A SCN1A GRIN2A GRIN1
19 monoatomic ion transport GO:0006811 9.61 SCN9A SCN2A SCN1B SCN1A KCNT1 KCNQ3
20 monoatomic ion transmembrane transport GO:0034220 9.28 SCN9A SCN2A SCN1B SCN1A KCNQ3 GRIN2A

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated monoatomic ion channel activity GO:0005244 9.86 KCNQ3 SCN1A SCN1B SCN2A SCN9A
2 voltage-gated sodium channel activity GO:0005248 9.76 SCN9A SCN2A SCN1B SCN1A
3 NMDA glutamate receptor activity GO:0004972 9.71 GRIN2A GRIN1
4 glutamate-gated calcium ion channel activity GO:0022849 9.67 GRIN2A GRIN1
5 monoatomic cation channel activity GO:0005261 9.62 SCN9A SCN2A SCN1A GRIN2A
6 ionotropic glutamate receptor activity GO:0004970 9.43 GRIN2A GRIN1
7 sodium channel activity GO:0005272 9.26 SCN9A SCN2A SCN1B SCN1A
8 monoatomic ion channel activity GO:0005216 9.17 SCN9A SCN2A SCN1A KCNQ3 GRIN2A GRIN1

Sources for Benign Epilepsy with Centrotemporal Spikes

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
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