BRE
MCID: BNG009
MIFTS: 46

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
Benign Rolandic Epilepsy 12 59 73
Epilepsy, Rolandic 44 40 73
Rolandic Epilepsy 12 59 6
Benign Familial Epilepsy of Childhood with Rolandic Spikes 59
Benign Epilepsy of Childhood with Centrotemporal Spikes 59
Benign Childhood Epilepsy with Centrotemporal Spike 12
Centrotemporal Epilepsy 59
Sylvan Seizures 12
Bcects 12
Bects 59
Becrs 59
Bre 59

Characteristics:

Orphanet epidemiological data:

59
rolandic epilepsy
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Sweden); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3329
MeSH 44 D019305
Orphanet 59 ORPHA1945
ICD10 via Orphanet 34 G40.0
UMLS via Orphanet 74 C0376532 C2363129

Summaries for Benign Epilepsy with Centrotemporal Spikes

MalaCards based summary : Benign Epilepsy with Centrotemporal Spikes, also known as benign rolandic epilepsy, is related to epilepsy and epilepsy, idiopathic generalized 10. 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 Neuroscience and L1CAM interactions. The drugs Carbamazepine and Topiramate have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and cortex, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 76 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 63)
# Related Disease Score Top Affiliating Genes
1 epilepsy 31.3 ASAH1 CHD2 CNTNAP2 CSTB DEPDC5 EPM2A
2 epilepsy, idiopathic generalized 10 30.8 CSTB GABRG2 KCNQ3 SCN2A
3 focal epilepsy 30.7 CNTNAP2 DEPDC5 GABRG2 GRIN2A SCN2A SPTAN1
4 benign neonatal seizures 30.3 KCNQ3 SCN2A
5 rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked 12.6
6 rolandic epilepsy-speech dyspraxia syndrome 12.2
7 epilepsy, focal, with speech disorder and with or without mental retardation 11.6
8 paroxysmal exertion-induced dyskinesia 11.5
9 epilepsy-aphasia spectrum 11.5
10 centralopathic epilepsy 11.5
11 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 11.2
12 episodic kinesigenic dyskinesia 1 11.2
13 convulsions, familial infantile, with paroxysmal choreoathetosis 11.2
14 continuous spike-wave during slow sleep syndrome 11.2
15 hemosiderosis 11.1
16 childhood absence epilepsy 10.5
17 childhood electroclinical syndrome 10.3 GABRG2 GRIN2A KCNQ3
18 epilepsy, nocturnal frontal lobe, 1 10.3 GABRG2 KCNQ3 SCN1B
19 infancy electroclinical syndrome 10.3 GABRG2 SCN1B SCN2A
20 autosomal dominant epilepsy with auditory features 10.3 DEPDC5 RELN
21 epilepsy with generalized tonic-clonic seizures 10.3 CSTB SCN2A
22 epileptic encephalopathy, early infantile, 1 10.3 PLCB1 WWOX
23 benign familial infantile epilepsy 10.3 KCNQ3 SCN1B SCN2A
24 cerebral ventricle cancer 10.3 IER3IP1 RBFOX3
25 malignant migrating partial seizures of infancy 10.3 PLCB1 SCN2A
26 temporal lobe epilepsy 10.3
27 seizures, benign familial infantile, 3 10.3 GABRG2 KCNQ3 SCN1B SCN2A
28 generalized epilepsy with febrile seizures plus 10.3 GABRG2 KCNQ3 SCN1B SCN2A
29 infantile epileptic encephalopathy 10.3 PLCB1 SCN2A SPTAN1
30 unverricht-lundborg syndrome 10.3 CSTB EPM2A KCNQ3
31 epilepsy, familial temporal lobe, 3 10.3 DEPDC5 SCN2A
32 disease of mental health 10.3 GRIN2A IER3IP1 RELN
33 convulsions benign familial neonatal dominant form 10.3
34 myoclonus 10.3
35 seizure disorder 10.3
36 early myoclonic encephalopathy 10.2 CSTB EPM2A GABRG2 SCN1B
37 autism spectrum disorder 10.2 CNTNAP2 RBFOX1 RELN SCN2A
38 epilepsy, idiopathic generalized 10.2 GABRG2 IER3IP1 KCNQ3 SCN1B SCN2A
39 epileptic encephalopathy, early infantile, 6 10.2 CHD2 GABRG2 KCNQ3 SCN1B SCN2A
40 west syndrome 10.2 PLCB1 SCN2A SPTAN1
41 myoclonus epilepsy 10.2 CSTB EPM2A
42 early infantile epileptic encephalopathy 10.2 PLCB1 SCN2A SPTAN1
43 autism 10.2 CNTNAP2 GRIN2A RBFOX1 RELN SCN2A
44 myoclonic epilepsy of unverricht and lundborg 10.2 CSTB EPM2A
45 photosensitive epilepsy 10.2 CHD2 IER3IP1
46 dyslexia 10.2
47 hepatocellular carcinoma 10.1
48 leukemia, acute myeloid 10.1
49 myeloid leukemia 10.1
50 adolescence-adult electroclinical syndrome 10.1 CSTB GABRG2

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

MGI Mouse Phenotypes related to Benign Epilepsy with Centrotemporal Spikes:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ASAH1 CHD2 CNTNAP2 CSTB DEPDC5 EPM2A
2 growth/size/body region MP:0005378 10.03 ASAH1 CHD2 CNTNAP2 CSTB DEPDC5 EPM2A
3 mortality/aging MP:0010768 9.77 ASAH1 CHD2 DEPDC5 EPM2A GABRG2 KCNQ3
4 nervous system MP:0003631 9.5 ASAH1 CNTNAP2 CSTB DEPDC5 EPM2A GABRG2

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 44)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
2
Topiramate Approved Phase 4 97240-79-4 5284627
3 Piracetam Approved, Investigational Phase 4,Phase 3,Phase 1 7491-74-9
4
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
6
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
7
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
8
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
9
Oxcarbazepine Approved Phase 4 28721-07-5 34312
10
Valproic Acid Approved, Investigational Phase 4 99-66-1 3121
11 Etiracetam Investigational Phase 4,Phase 3,Phase 1 33996-58-6
12
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
13 Analgesics, Non-Narcotic Phase 4
14 Central Nervous System Depressants Phase 4,Not Applicable
15 Neuroprotective Agents Phase 4,Phase 3,Phase 1
16 Peripheral Nervous System Agents Phase 4
17 Psychotropic Drugs Phase 4
18 Cytochrome P-450 CYP3A Inducers Phase 4
19 Anti-Obesity Agents Phase 4
20 Protective Agents Phase 4,Phase 3,Phase 1
21 Tranquilizing Agents Phase 4
22 Anticonvulsants Phase 4,Phase 3,Phase 1,Not Applicable
23 Analgesics Phase 4
24 Antimanic Agents Phase 4
25 Nootropic Agents Phase 4,Phase 3,Phase 1
26 Neurotransmitter Agents Phase 4,Not Applicable
27 GABA Agents Phase 4,Not Applicable
28 Hypnotics and Sedatives Phase 4,Not Applicable
29 GABA Modulators Phase 4,Not Applicable
30 Methylprednisolone acetate Phase 4
31 Prednisolone acetate Phase 4
32 Adjuvants, Anesthesia Phase 4
33 Diuretics, Potassium Sparing Phase 4
34 Anesthetics, General Phase 4
35 Anesthetics, Intravenous Phase 4
36 Antiemetics Phase 4
37 Sodium Channel Blockers Phase 4
38 Neuromuscular Agents Phase 4
39 Autonomic Agents Phase 4
40 Gastrointestinal Agents Phase 4
41 Anesthetics Phase 4
42 Anti-Anxiety Agents Phase 4
43
Sulthiame Experimental Phase 3 61-56-3
44
Zaleplon Approved, Illicit, Investigational Not Applicable 151319-34-5 5719

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Safety and Efficacy of Topamax Versus Carbamazepine in Benign Rolandic Epilepsy Completed NCT00216567 Phase 4 topamax
2 Levetiracetam for Benign Rolandic Epilepsy Completed NCT00181116 Phase 4 Levetiracetam
3 Electroclinical Effect of Diazepam and Steroid in Patients With Benign Childhood Epilepsy With Centrotemporal Spikes Not yet recruiting NCT03490487 Phase 4 conventional antiepileptic drugs;oral steroid;Diazepam
4 HEAD-Study Optimizing the Treatment of Children With BECTS Terminated NCT00471744 Phase 3 Treatment with levetiracetam or sulthiame over a six-month period.
5 Imaging the Effect of Centrotemporal Spikes and Seizures on Language in Children Completed NCT01521130 Phase 1 Levetiracetam
6 Genetic Basis of Idiopathic Focal Epilepsies With Cognitif Deficits Unknown status NCT00851331 Not Applicable
7 Sleep and Memory in Children Unknown status NCT02785328 Not Applicable
8 Brain Maturation in Children With Localization Related Epilepsy Completed NCT02648529 Not Applicable
9 The Effect of Music Periodicity on Interictal Epileptiform Discharges Completed NCT01515436 Not Applicable
10 Effect of Auditory Stimulation on Spike Waves in Sleep Completed NCT02562885 Not Applicable
11 Emotion Recognition in Benign Epilepsy of Childhood With Centro-Temporal Spikes (BECTS) Recruiting NCT03465566

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

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

41
Brain, Bone, Cortex, Eye, Myeloid, Bone Marrow, Temporal Lobe

Publications for Benign Epilepsy with Centrotemporal Spikes

Articles related to Benign Epilepsy with Centrotemporal Spikes:

(show top 50) (show all 116)
# Title Authors Year
1
Differential patterns of dynamic functional connectivity variability of striato-cortical circuitry in children with benign epilepsy with centrotemporal spikes. ( 29206330 )
2018
2
Spike persistence and normalization in benign epilepsy with centrotemporal spikes - Implications for management. ( 29754875 )
2018
3
Whole-Exome Sequencing Revealing De Novo Heterozygous Variant OF KCNT1 in a Twin Discordant for Benign Epilepsy with Centrotemporal Spikes. ( 29870100 )
2018
4
Abnormal dynamics of functional connectivity density in children with benign epilepsy with centrotemporal spikes. ( 29956102 )
2018
5
The focal alteration and causal connectivity in children with new-onset benign epilepsy with centrotemporal spikes. ( 29632387 )
2018
6
Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial. ( 29475094 )
2018
7
Timing matters: Impact of anticonvulsant drug treatment and spikes on seizure risk in benign epilepsy with centrotemporal spikes. ( 30187012 )
2018
8
Benign epilepsy with centrotemporal spikes - Current concepts of diagnosis and treatment. ( 30219586 )
2018
9
Benign epilepsy with centrotemporal spikes: Correlating spike frequency and neuropsychology. ( 30259965 )
2018
10
Clinical Features at the Time of Diagnosis of Benign Epilepsy With Centrotemporal Spikes Do Not Predict Subsequent Seizures. ( 30337131 )
2018
11
Benign rolandic epilepsy of childhood and central auditory processing disorder: A noncasual neurophysiological association. ( 30384100 )
2018
12
Benign rolandic epilepsy and generalized paroxysms: A study of 13 patients. ( 29547828 )
2018
13
Tantrums, Emotion Reactions and Their EEG Correlates in Childhood Benign Rolandic Epilepsy vs. Complex Partial Seizures: Exploratory Observations. ( 29593509 )
2018
14
Decreased functional connectivity within a language subnetwork in benign epilepsy with centrotemporal spikes. ( 29588950 )
2017
15
Epileptic Negative Myoclonus as the First and Only Symptom in a Challenging Diagnosis of Benign Epilepsy With Centrotemporal Spikes. ( 28815192 )
2017
16
Cognition in patients with benign epilepsy with centrotemporal spikes: A study with long-term VEEG and RS-fMRI. ( 28882722 )
2017
17
Epileptic Discharge Related Functional Connectivity Within and Between Networks in Benign Epilepsy with Centrotemporal Spikes. ( 28359223 )
2017
18
"Atypical forms" of benign epilepsy with centrotemporal spikes (BECTS): How to diagnose and guide these children. A practical/scientific approach. ( 28866336 )
2017
19
Coexistence of childhood absence epilepsy and benign epilepsy with centrotemporal spikes: A case series. ( 28238620 )
2017
20
Psychosocial and behavioral functioning and their relationship to seizure timing in children with benign epilepsy with centrotemporal spikes. ( 28214048 )
2017
21
Atypical features of benign rolandic epilepsy in Chinese children: Retrospective study. ( 28258599 )
2017
22
Benign Rolandic epilepsy presenting like paradoxical vocal fold motion. ( 29106865 )
2017
23
Longitudinal stability of interictal spikes in benign epilepsy with centrotemporal spikes. ( 27012680 )
2016
24
Neuropsychological profile in new-onset benign epilepsy with centrotemporal spikes (BECTS): Focusing on executive functions. ( 26667848 )
2016
25
Impact of frequency and lateralization of interictal discharges on neuropsychological and fine motor status in children with benign epilepsy with centrotemporal spikes. ( 27350662 )
2016
26
Decreased Network Efficiency in Benign Epilepsy with Centrotemporal Spikes. ( 27631414 )
2016
27
EEG Resting State Functional Connectivity Analysis in Children with Benign Epilepsy with Centrotemporal Spikes. ( 27065797 )
2016
28
Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal spikes in Chinese mainland population. ( 26954261 )
2016
29
The Clinical Implications of Todd Paralysis in Children With Benign Rolandic Epilepsy. ( 26060308 )
2016
30
Not Necessarily Benign: Rolandic Epilepsy. ( 27582666 )
2016
31
Altered Structural and Functional Feature of Striato-Cortical Circuit in Benign Epilepsy with Centrotemporal Spikes. ( 26126612 )
2015
32
Local Activity and Causal Connectivity in Children with Benign Epilepsy with Centrotemporal Spikes. ( 26225427 )
2015
33
Intrinsic brain activity as a diagnostic biomarker in children with benign epilepsy with centrotemporal spikes. ( 26173095 )
2015
34
Cognition and brain development in children with benign epilepsy with centrotemporal spikes. ( 26337046 )
2015
35
Comparing cortical auditory processing in children with typical and atypical benign epilepsy with centrotemporal spikes: Electrophysiologic evidence of the role of non-rapid eye movement sleep abnormalities. ( 25809446 )
2015
36
EEG resting state analysis of cortical sources in patients with benign epilepsy with centrotemporal spikes. ( 26509114 )
2015
37
Language dysfunction is associated with age of onset of benign epilepsy with centrotemporal spikes in children. ( 25614147 )
2015
38
Temporal auditory processing and phonological awareness in children with benign epilepsy with centrotemporal spikes. ( 25685775 )
2015
39
Benign epilepsy with centrotemporal spikes: Relationship between type of seizures and response to medication in a Greek population. ( 26752901 )
2015
40
Language and literacy in children with benign epilepsy with centrotemporal spikes. ( 26306569 )
2015
41
The attentional networks in benign epilepsy with centrotemporal spikes. ( 26520880 )
2015
42
Default mode network alterations during language task performance in children with benign epilepsy with centrotemporal spikes (BECTS). ( 24583653 )
2014
43
Transition issues for benign epilepsy with centrotemporal spikes, nonlesional focal epilepsy in otherwise normal children, childhood absence epilepsy, and juvenile myoclonic epilepsy. ( 25209080 )
2014
44
Memory functioning in children with epilepsy: frontal lobe epilepsy, childhood absence epilepsy, and benign epilepsy with centrotemporal spikes. ( 25157201 )
2014
45
Association of brain-derived neurotrophic factor (BDNF) and elongator protein complex 4 (ELP4) polymorphisms with benign epilepsy with centrotemporal spikes in a Greek population. ( 25301525 )
2014
46
Four-year-old girl with abnormal EEG on routine overnight polysomnogram for snoring and behavioral issues. Benign rolandic epilepsy (BRE) or benign epilepsy of childhood with centrotemporal spikes (BECTS). ( 24426830 )
2014
47
Levetiracetam vs. sulthiame in benign epilepsy with centrotemporal spikes in childhood: a double-blinded, randomized, controlled trial (German HEAD Study). ( 23642492 )
2013
48
Cognitive impairment and cortical reorganization in children with benign epilepsy with centrotemporal spikes. ( 23297860 )
2013
49
Cognitive and other neuropsychological profiles in children with newly diagnosed benign rolandic epilepsy. ( 23133485 )
2012
50
Association of language dysfunction and age of onset of benign epilepsy with centrotemporal spikes in children. ( 22560726 )
2012

Variations for Benign Epilepsy with Centrotemporal Spikes

ClinVar genetic disease variations for Benign Epilepsy with Centrotemporal Spikes:

6 (show top 50) (show all 224)
# Gene Variation Type Significance SNP ID Assembly Location
1 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh37 Chromosome 21, 45194178: 45194178
2 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh38 Chromosome 21, 43774297: 43774297
3 GABRG2 NM_000816.3(GABRG2): c.968G> A (p.Arg323Gln) single nucleotide variant Pathogenic rs397514737 GRCh37 Chromosome 5, 161576159: 161576159
4 GABRG2 NM_000816.3(GABRG2): c.968G> A (p.Arg323Gln) single nucleotide variant Pathogenic rs397514737 GRCh38 Chromosome 5, 162149153: 162149153
5 SCN1A NM_006920.4(SCN1A): c.1625G> A (p.Arg542Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121918817 GRCh37 Chromosome 2, 166901590: 166901590
6 SCN1A NM_006920.4(SCN1A): c.1625G> A (p.Arg542Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121918817 GRCh38 Chromosome 2, 166045080: 166045080
7 SCN1A NM_006920.4(SCN1A): c.3488C> G (p.Thr1163Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121918799 GRCh37 Chromosome 2, 166872146: 166872146
8 SCN1A NM_006920.4(SCN1A): c.3488C> G (p.Thr1163Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121918799 GRCh38 Chromosome 2, 166015636: 166015636
9 GRIN2A NM_000833.4(GRIN2A): c.1007+1G> A single nucleotide variant Pathogenic rs397518465 GRCh37 Chromosome 16, 10031815: 10031815
10 GRIN2A NM_000833.4(GRIN2A): c.1007+1G> A single nucleotide variant Pathogenic rs397518465 GRCh38 Chromosome 16, 9937958: 9937958
11 PCDH19 NM_001184880.1(PCDH19): c.3319C> G (p.Arg1107Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs191333060 GRCh37 Chromosome X, 99551403: 99551403
12 PCDH19 NM_001184880.1(PCDH19): c.3319C> G (p.Arg1107Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs191333060 GRCh38 Chromosome X, 100296405: 100296405
13 RELN NM_005045.3(RELN): c.139G> A (p.Glu47Lys) single nucleotide variant Uncertain significance rs139648092 GRCh37 Chromosome 7, 103629665: 103629665
14 RELN NM_005045.3(RELN): c.139G> A (p.Glu47Lys) single nucleotide variant Uncertain significance rs139648092 GRCh38 Chromosome 7, 103989218: 103989218
15 GRIN2A NM_000833.4(GRIN2A): c.547T> A (p.Phe183Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs587780353 GRCh38 Chromosome 16, 9938419: 9938419
16 GRIN2A NM_000833.4(GRIN2A): c.547T> A (p.Phe183Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs587780353 GRCh37 Chromosome 16, 10032276: 10032276
17 PRICKLE1 NM_153026.2(PRICKLE1): c.370G> A (p.Ala124Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs79087668 GRCh37 Chromosome 12, 42863266: 42863266
18 PRICKLE1 NM_153026.2(PRICKLE1): c.370G> A (p.Ala124Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs79087668 GRCh38 Chromosome 12, 42469464: 42469464
19 RELN NM_005045.3(RELN): c.2932A> G (p.Thr978Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs3025962 GRCh37 Chromosome 7, 103251218: 103251218
20 RELN NM_005045.3(RELN): c.2932A> G (p.Thr978Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs3025962 GRCh38 Chromosome 7, 103610771: 103610771
21 RELN NM_005045.3(RELN): c.5284G> A (p.Val1762Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs79499902 GRCh37 Chromosome 7, 103202327: 103202327
22 RELN NM_005045.3(RELN): c.5284G> A (p.Val1762Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs79499902 GRCh38 Chromosome 7, 103561880: 103561880
23 SCN9A NM_002977.3(SCN9A): c.2969A> G (p.Tyr990Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199692186 GRCh37 Chromosome 2, 167129258: 167129258
24 SCN9A NM_002977.3(SCN9A): c.2969A> G (p.Tyr990Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs199692186 GRCh38 Chromosome 2, 166272748: 166272748
25 CNTNAP2 NM_014141.5(CNTNAP2): c.755-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369675346 GRCh37 Chromosome 7, 146818066: 146818066
26 CNTNAP2 NM_014141.5(CNTNAP2): c.755-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs369675346 GRCh38 Chromosome 7, 147120974: 147120974
27 SPTAN1 NM_001130438.2(SPTAN1): c.1303T> G (p.Ser435Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144787939 GRCh37 Chromosome 9, 131341997: 131341997
28 SPTAN1 NM_001130438.2(SPTAN1): c.1303T> G (p.Ser435Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144787939 GRCh38 Chromosome 9, 128579718: 128579718
29 SPTAN1 NM_001130438.2(SPTAN1): c.3720-5T> G single nucleotide variant Conflicting interpretations of pathogenicity rs200543425 GRCh37 Chromosome 9, 131367308: 131367308
30 SPTAN1 NM_001130438.2(SPTAN1): c.3720-5T> G single nucleotide variant Conflicting interpretations of pathogenicity rs200543425 GRCh38 Chromosome 9, 128605029: 128605029
31 SCN9A NM_002977.3(SCN9A): c.3316G> T (p.Val1106Leu) single nucleotide variant Uncertain significance rs200817435 GRCh37 Chromosome 2, 167128911: 167128911
32 SCN9A NM_002977.3(SCN9A): c.3316G> T (p.Val1106Leu) single nucleotide variant Uncertain significance rs200817435 GRCh38 Chromosome 2, 166272401: 166272401
33 TBC1D24 NM_001199107.1(TBC1D24): c.169C> T (p.Arg57Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202162520 GRCh37 Chromosome 16, 2546318: 2546318
34 TBC1D24 NM_001199107.1(TBC1D24): c.169C> T (p.Arg57Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202162520 GRCh38 Chromosome 16, 2496317: 2496317
35 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 GRCh37 Chromosome 2, 167089942: 167089942
36 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 GRCh38 Chromosome 2, 166233432: 166233432
37 SPTAN1 NM_001130438.2(SPTAN1): c.4283C> G (p.Ala1428Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143166100 GRCh37 Chromosome 9, 131370267: 131370267
38 SPTAN1 NM_001130438.2(SPTAN1): c.4283C> G (p.Ala1428Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143166100 GRCh38 Chromosome 9, 128607988: 128607988
39 RELN NM_005045.3(RELN): c.8843+3A> C single nucleotide variant Uncertain significance rs200124755 GRCh37 Chromosome 7, 103138521: 103138521
40 RELN NM_005045.3(RELN): c.8843+3A> C single nucleotide variant Uncertain significance rs200124755 GRCh38 Chromosome 7, 103498074: 103498074
41 PRICKLE1 NM_153026.2(PRICKLE1): c.2216C> T (p.Ser739Phe) single nucleotide variant Uncertain significance rs138452760 GRCh37 Chromosome 12, 42853891: 42853891
42 PRICKLE1 NM_153026.2(PRICKLE1): c.2216C> T (p.Ser739Phe) single nucleotide variant Uncertain significance rs138452760 GRCh38 Chromosome 12, 42460089: 42460089
43 SCN2A NM_021007.2(SCN2A): c.3457G> A (p.Glu1153Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200138205 GRCh38 Chromosome 2, 165365200: 165365200
44 SCN2A NM_021007.2(SCN2A): c.3457G> A (p.Glu1153Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200138205 GRCh37 Chromosome 2, 166221710: 166221710
45 SCARB2 NM_005506.3(SCARB2): c.1010T> C (p.Met337Thr) single nucleotide variant Uncertain significance rs147324129 GRCh38 Chromosome 4, 76169970: 76169970
46 SCARB2 NM_005506.3(SCARB2): c.1010T> C (p.Met337Thr) single nucleotide variant Uncertain significance rs147324129 GRCh37 Chromosome 4, 77091123: 77091123
47 SCARB2 NM_005506.3(SCARB2): c.80G> A (p.Arg27Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs368906199 GRCh37 Chromosome 4, 77134617: 77134617
48 SCARB2 NM_005506.3(SCARB2): c.80G> A (p.Arg27Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs368906199 GRCh38 Chromosome 4, 76213464: 76213464
49 GABRG2 NM_198903.2(GABRG2): c.549-3T> G single nucleotide variant Conflicting interpretations of pathogenicity rs750459631 GRCh38 Chromosome 5, 162101232: 162101232
50 GABRG2 NM_198903.2(GABRG2): c.549-3T> G single nucleotide variant Conflicting interpretations of pathogenicity rs750459631 GRCh37 Chromosome 5, 161528238: 161528238

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 12.09 CNTNAP2 GRIN2A RBFOX3 SCN1B SCN2A
2
Show member pathways
11.35 KCNQ3 SCN1B SCN2A SPTAN1
3 10.67 ASAH1 PLCB1
4 10.4 KCNQ3 SCN1B SCN2A SPTAN1

GO Terms for Benign Epilepsy with Centrotemporal Spikes

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

# Name GO ID Score Top Affiliating Genes
1 voltage-gated sodium channel complex GO:0001518 9.26 SCN1B SCN2A
2 sodium channel complex GO:0034706 9.16 SCN1B SCN2A
3 tertiary granule lumen GO:1904724 9.13 ASAH1 CSTB SPTAN1
4 node of Ranvier GO:0033268 8.8 KCNQ3 SCN1B SCN2A

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.85 GABRG2 GRIN2A KCNQ3 SCN1B SCN2A
2 chemical synaptic transmission GO:0007268 9.67 GABRG2 GRIN2A KCNQ3 SCN1B
3 brain development GO:0007420 9.62 CNTNAP2 GRIN2A PLCB1 RELN
4 positive regulation of long-term synaptic potentiation GO:1900273 9.43 GRIN2A RELN
5 cerebral cortex development GO:0021987 9.43 CNTNAP2 PLCB1 RELN
6 glutamate receptor signaling pathway GO:0007215 9.4 GRIN2A PLCB1
7 locomotion GO:0040011 9.16 GRIN2A SCN1B
8 learning GO:0007612 9.13 CNTNAP2 GRIN2A RELN
9 negative regulation of TOR signaling GO:0032007 8.8 DEPDC5 EPM2A SIK1B

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 ion channel activity GO:0005244 9.13 KCNQ3 SCN1B SCN2A
2 voltage-gated sodium channel activity GO:0005248 8.62 SCN1B SCN2A

Sources for Benign Epilepsy with Centrotemporal Spikes

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11 DGIdb
17 ExPASy
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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