BRE
MCID: BNG009
MIFTS: 48

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 60 74
Epilepsy, Rolandic 45 41 74
Rolandic Epilepsy 12 60 6
Benign Familial Epilepsy of Childhood with Rolandic Spikes 60
Benign Epilepsy of Childhood with Centrotemporal Spikes 60
Benign Childhood Epilepsy with Centrotemporal Spike 12
Centrotemporal Epilepsy 60
Sylvan Seizures 12
Bcects 12
Bects 60
Becrs 60
Bre 60

Characteristics:

Orphanet epidemiological data:

60
rolandic epilepsy
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Sweden); Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:3329
MeSH 45 D019305
ICD10 via Orphanet 35 G40.0
UMLS via Orphanet 75 C0376532 C2363129
Orphanet 60 ORPHA1945

Summaries for Benign Epilepsy with Centrotemporal Spikes

MalaCards based summary : Benign Epilepsy with Centrotemporal Spikes, also known as benign rolandic epilepsy, is related to childhood absence epilepsy 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 Neuropathic Pain-Signaling in Dorsal Horn Neurons and Neuroscience. The drugs Topiramate and Carbamazepine have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and testes, and related phenotypes are behavior/neurological and growth/size/body region

Wikipedia : 77 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 56)
# Related Disease Score Top Affiliating Genes
1 childhood absence epilepsy 31.3 GABRG2 SCN1B SLC2A1
2 epilepsy 31.3 ASAH1 DEPDC5 GABRG2 GRIN2A IER3IP1 KCNQ3
3 epilepsy, idiopathic generalized 10 31.1 GABRG2 KCNQ3 SCN2A
4 temporal lobe epilepsy 31.0 GRIN1 RELN SCN1B
5 focal epilepsy 30.8 DEPDC5 GABRG2 GRIN2A SCN2A SLC2A1 SPTAN1
6 rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked 12.6
7 rolandic epilepsy-speech dyspraxia syndrome 12.2
8 epilepsy, focal, with speech disorder and with or without mental retardation 11.6
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 paroxysmal exertion-induced dyskinesia 11.2
16 autosomal dominant epilepsy with auditory features 10.5 DEPDC5 RELN
17 infancy electroclinical syndrome 10.4 GABRG2 SCN1B SCN2A
18 epilepsy, nocturnal frontal lobe, 1 10.4 GABRG2 KCNQ3 SCN1B
19 benign familial infantile epilepsy 10.4 KCNQ3 SCN1B SCN2A
20 epileptic encephalopathy, early infantile, 1 10.4 PLCB1 WWOX
21 seizures, benign familial infantile, 3 10.4 GABRG2 KCNQ3 SCN1B SCN2A
22 childhood electroclinical syndrome 10.4 GABRG2 GRIN2A KCNQ3 SLC2A1
23 generalized epilepsy with febrile seizures plus 10.4 GABRG2 KCNQ3 SCN1B SCN2A
24 cerebral ventricle cancer 10.4 IER3IP1 RBFOX3
25 early onset absence epilepsy 10.4 SCN1B SLC2A1
26 epileptic encephalopathy, early infantile, 6 10.4 GABRG2 KCNQ3 SCN1B SCN2A
27 malignant migrating partial seizures of infancy 10.4 PLCB1 SCN2A
28 disease of mental health 10.4 GRIN2A IER3IP1 RELN
29 epilepsy, familial temporal lobe, 3 10.3 DEPDC5 SCN2A
30 west syndrome 10.3 PLCB1 SCN2A SPTAN1
31 epilepsy, idiopathic generalized 10.3 GABRG2 IER3IP1 KCNQ3 SCN1B SCN2A SLC2A1
32 convulsions benign familial neonatal dominant form 10.3
33 myoclonus 10.3
34 seizure disorder 10.3
35 early infantile epileptic encephalopathy 10.2 PLCB1 SCN2A SPTAN1
36 leukemia, acute myeloid 10.2
37 leukemia 10.2
38 myeloid leukemia 10.2
39 dyslexia 10.2
40 hepatocellular carcinoma 10.1
41 hemimegalencephaly 10.1 DEPDC5 GRIN1
42 monosomy 7 of bone marrow 10.1
43 status epilepticus 10.1
44 xp22.3 microdeletion syndrome 10.1
45 electroclinical syndrome 10.0
46 benign neonatal seizures 10.0
47 landau-kleffner syndrome 10.0
48 homocystinuria 10.0
49 aphasia 10.0
50 dyscalculia 10.0

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ASAH1 DEPDC5 GABRG2 GRIN1 GRIN2A KCNQ3
2 growth/size/body region MP:0005378 9.97 ASAH1 DEPDC5 GABRG2 GRIN1 KCNQ3 PLCB1
3 mortality/aging MP:0010768 9.8 ASAH1 DEPDC5 GABRG2 GRIN1 KCNQ3 PLCB1
4 nervous system MP:0003631 9.5 ASAH1 DEPDC5 GABRG2 GRIN1 GRIN2A KCNQ3

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 41)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Topiramate Approved Phase 4 97240-79-4 5284627
2
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
3
Levetiracetam Approved, Investigational Phase 4,Phase 3,Phase 1 102767-28-2 441341
4
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
5
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
6
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
7
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
8
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
9
Valproic Acid Approved, Investigational Phase 4 99-66-1 3121
10
Oxcarbazepine Approved Phase 4 28721-07-5 34312
11
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
12 Hypoglycemic Agents Phase 4
13 Antimanic Agents Phase 4
14 Central Nervous System Depressants Phase 4,Not Applicable
15 Peripheral Nervous System Agents Phase 4
16 Psychotropic Drugs Phase 4
17 Sodium Channel Blockers Phase 4
18 Cytochrome P-450 CYP3A Inducers Phase 4
19 Analgesics Phase 4
20 Diuretics, Potassium Sparing Phase 4
21 Anticonvulsants Phase 4,Phase 3,Phase 1,Not Applicable
22 Analgesics, Non-Narcotic Phase 4
23 Tranquilizing Agents Phase 4
24 Nootropic Agents Phase 4,Phase 3,Phase 1
25 Neurotransmitter Agents Phase 4,Not Applicable
26 GABA Modulators Phase 4,Not Applicable
27 GABA Agents Phase 4,Not Applicable
28 Hypnotics and Sedatives Phase 4,Not Applicable
29 Autonomic Agents Phase 4
30 Anesthetics Phase 4
31 Anesthetics, Intravenous Phase 4
32 Neuromuscular Agents Phase 4
33 Prednisolone acetate Phase 4
34 Anti-Anxiety Agents Phase 4
35 Adjuvants, Anesthesia Phase 4
36 Antiemetics Phase 4
37 Methylprednisolone Acetate Phase 4
38 Gastrointestinal Agents Phase 4
39 Anesthetics, General Phase 4
40
Sulthiame Experimental Phase 3 61-56-3
41
Zaleplon Approved, Illicit, Investigational Not Applicable 151319-34-5 5719

Interventional clinical trials:

(show all 12)
# 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 Brain Maturation in Children With Localization Related Epilepsy Completed NCT02648529 Not Applicable
8 The Effect of Music Periodicity on Interictal Epileptiform Discharges Completed NCT01515436 Not Applicable
9 Effect of Auditory Stimulation on Spike Waves in Sleep Completed NCT02562885 Not Applicable
10 Sleep and Memory in Children Completed NCT02785328 Not Applicable
11 Sleep Related Memory Consolidation in Children With Age Related Focal Epilepsy. Recruiting NCT03865771 Not Applicable
12 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:

42
Brain, Cortex, Testes, Eye

Publications for Benign Epilepsy with Centrotemporal Spikes

Articles related to Benign Epilepsy with Centrotemporal Spikes:

(show top 50) (show all 117)
# Title Authors Year
1
Beta oscillations in the sensorimotor cortex correlate with disease and remission in benign epilepsy with centrotemporal spikes. ( 30790472 )
2019
2
Differential patterns of dynamic functional connectivity variability of striato-cortical circuitry in children with benign epilepsy with centrotemporal spikes. ( 29206330 )
2018
3
Spike persistence and normalization in benign epilepsy with centrotemporal spikes - Implications for management. ( 29754875 )
2018
4
Whole-Exome Sequencing Revealing De Novo Heterozygous Variant OF KCNT1 in a Twin Discordant for Benign Epilepsy with Centrotemporal Spikes. ( 29870100 )
2018
5
Abnormal dynamics of functional connectivity density in children with benign epilepsy with centrotemporal spikes. ( 29956102 )
2018
6
The focal alteration and causal connectivity in children with new-onset benign epilepsy with centrotemporal spikes. ( 29632387 )
2018
7
Effects of Levetiracetam and Sulthiame on EEG in benign epilepsy with centrotemporal spikes: A randomized controlled trial. ( 29475094 )
2018
8
Timing matters: Impact of anticonvulsant drug treatment and spikes on seizure risk in benign epilepsy with centrotemporal spikes. ( 30187012 )
2018
9
Benign epilepsy with centrotemporal spikes - Current concepts of diagnosis and treatment. ( 30219586 )
2018
10
Benign epilepsy with centrotemporal spikes: Correlating spike frequency and neuropsychology. ( 30259965 )
2018
11
Clinical Features at the Time of Diagnosis of Benign Epilepsy With Centrotemporal Spikes Do Not Predict Subsequent Seizures. ( 30337131 )
2018
12
Benign rolandic epilepsy of childhood and central auditory processing disorder: A noncasual neurophysiological association. ( 30384100 )
2018
13
Tantrums, Emotion Reactions and Their EEG Correlates in Childhood Benign Rolandic Epilepsy vs. Complex Partial Seizures: Exploratory Observations. ( 29593509 )
2018
14
Benign rolandic epilepsy and generalized paroxysms: A study of 13 patients. ( 29547828 )
2018
15
Decreased functional connectivity within a language subnetwork in benign epilepsy with centrotemporal spikes. ( 29588950 )
2017
16
Epileptic Negative Myoclonus as the First and Only Symptom in a Challenging Diagnosis of Benign Epilepsy With Centrotemporal Spikes. ( 28815192 )
2017
17
Cognition in patients with benign epilepsy with centrotemporal spikes: A study with long-term VEEG and RS-fMRI. ( 28882722 )
2017
18
Epileptic Discharge Related Functional Connectivity Within and Between Networks in Benign Epilepsy with Centrotemporal Spikes. ( 28359223 )
2017
19
"Atypical forms" of benign epilepsy with centrotemporal spikes (BECTS): How to diagnose and guide these children. A practical/scientific approach. ( 28866336 )
2017
20
Coexistence of childhood absence epilepsy and benign epilepsy with centrotemporal spikes: A case series. ( 28238620 )
2017
21
Psychosocial and behavioral functioning and their relationship to seizure timing in children with benign epilepsy with centrotemporal spikes. ( 28214048 )
2017
22
Atypical features of benign rolandic epilepsy in Chinese children: Retrospective study. ( 28258599 )
2017
23
Benign Rolandic epilepsy presenting like paradoxical vocal fold motion. ( 29106865 )
2017
24
Longitudinal stability of interictal spikes in benign epilepsy with centrotemporal spikes. ( 27012680 )
2016
25
Neuropsychological profile in new-onset benign epilepsy with centrotemporal spikes (BECTS): Focusing on executive functions. ( 26667848 )
2016
26
Impact of frequency and lateralization of interictal discharges on neuropsychological and fine motor status in children with benign epilepsy with centrotemporal spikes. ( 27350662 )
2016
27
Decreased Network Efficiency in Benign Epilepsy with Centrotemporal Spikes. ( 27631414 )
2016
28
EEG Resting State Functional Connectivity Analysis in Children with Benign Epilepsy with Centrotemporal Spikes. ( 27065797 )
2016
29
Mutation screening of the PRRT2 gene for benign epilepsy with centrotemporal spikes in Chinese mainland population. ( 26954261 )
2016
30
The Clinical Implications of Todd Paralysis in Children With Benign Rolandic Epilepsy. ( 26060308 )
2016
31
Not Necessarily Benign: Rolandic Epilepsy. ( 27582666 )
2016
32
Altered Structural and Functional Feature of Striato-Cortical Circuit in Benign Epilepsy with Centrotemporal Spikes. ( 26126612 )
2015
33
Local Activity and Causal Connectivity in Children with Benign Epilepsy with Centrotemporal Spikes. ( 26225427 )
2015
34
Intrinsic brain activity as a diagnostic biomarker in children with benign epilepsy with centrotemporal spikes. ( 26173095 )
2015
35
Cognition and brain development in children with benign epilepsy with centrotemporal spikes. ( 26337046 )
2015
36
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
37
EEG resting state analysis of cortical sources in patients with benign epilepsy with centrotemporal spikes. ( 26509114 )
2015
38
Language dysfunction is associated with age of onset of benign epilepsy with centrotemporal spikes in children. ( 25614147 )
2015
39
Temporal auditory processing and phonological awareness in children with benign epilepsy with centrotemporal spikes. ( 25685775 )
2015
40
Benign epilepsy with centrotemporal spikes: Relationship between type of seizures and response to medication in a Greek population. ( 26752901 )
2015
41
Language and literacy in children with benign epilepsy with centrotemporal spikes. ( 26306569 )
2015
42
The attentional networks in benign epilepsy with centrotemporal spikes. ( 26520880 )
2015
43
Default mode network alterations during language task performance in children with benign epilepsy with centrotemporal spikes (BECTS). ( 24583653 )
2014
44
Transition issues for benign epilepsy with centrotemporal spikes, nonlesional focal epilepsy in otherwise normal children, childhood absence epilepsy, and juvenile myoclonic epilepsy. ( 25209080 )
2014
45
Memory functioning in children with epilepsy: frontal lobe epilepsy, childhood absence epilepsy, and benign epilepsy with centrotemporal spikes. ( 25157201 )
2014
46
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
47
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
48
Levetiracetam vs. sulthiame in benign epilepsy with centrotemporal spikes in childhood: a double-blinded, randomized, controlled trial (German HEAD Study). ( 23642492 )
2013
49
Cognitive impairment and cortical reorganization in children with benign epilepsy with centrotemporal spikes. ( 23297860 )
2013
50
Cognitive and other neuropsychological profiles in children with newly diagnosed benign rolandic epilepsy. ( 23133485 )
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 SPTAN1 NM_001130438.2(SPTAN1): c.1303T> G (p.Ser435Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144787939 GRCh37 Chromosome 9, 131341997: 131341997
2 SPTAN1 NM_001130438.2(SPTAN1): c.1303T> G (p.Ser435Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs144787939 GRCh38 Chromosome 9, 128579718: 128579718
3 SPTAN1 NM_001130438.2(SPTAN1): c.3720-5T> G single nucleotide variant Conflicting interpretations of pathogenicity rs200543425 GRCh38 Chromosome 9, 128605029: 128605029
4 SPTAN1 NM_001130438.2(SPTAN1): c.3720-5T> G single nucleotide variant Conflicting interpretations of pathogenicity rs200543425 GRCh37 Chromosome 9, 131367308: 131367308
5 SCN9A NM_002977.3(SCN9A): c.3316G> T (p.Val1106Leu) single nucleotide variant Uncertain significance rs200817435 GRCh37 Chromosome 2, 167128911: 167128911
6 SCN9A NM_002977.3(SCN9A): c.3316G> T (p.Val1106Leu) single nucleotide variant Uncertain significance rs200817435 GRCh38 Chromosome 2, 166272401: 166272401
7 TBC1D24 NM_001199107.1(TBC1D24): c.169C> T (p.Arg57Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202162520 GRCh37 Chromosome 16, 2546318: 2546318
8 TBC1D24 NM_001199107.1(TBC1D24): c.169C> T (p.Arg57Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs202162520 GRCh38 Chromosome 16, 2496317: 2496317
9 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 GRCh37 Chromosome 2, 167089942: 167089942
10 SCN9A NM_002977.3(SCN9A): c.3799C> G (p.Leu1267Val) single nucleotide variant Conflicting interpretations of pathogenicity rs180922748 GRCh38 Chromosome 2, 166233432: 166233432
11 SPTAN1 NM_001130438.2(SPTAN1): c.4283C> G (p.Ala1428Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143166100 GRCh37 Chromosome 9, 131370267: 131370267
12 SPTAN1 NM_001130438.2(SPTAN1): c.4283C> G (p.Ala1428Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs143166100 GRCh38 Chromosome 9, 128607988: 128607988
13 RELN NM_005045.3(RELN): c.8843+3A> C single nucleotide variant Uncertain significance rs200124755 GRCh37 Chromosome 7, 103138521: 103138521
14 RELN NM_005045.3(RELN): c.8843+3A> C single nucleotide variant Uncertain significance rs200124755 GRCh38 Chromosome 7, 103498074: 103498074
15 PRICKLE1 NM_153026.2(PRICKLE1): c.2216C> T (p.Ser739Phe) single nucleotide variant Uncertain significance rs138452760 GRCh37 Chromosome 12, 42853891: 42853891
16 PRICKLE1 NM_153026.2(PRICKLE1): c.2216C> T (p.Ser739Phe) single nucleotide variant Uncertain significance rs138452760 GRCh38 Chromosome 12, 42460089: 42460089
17 SCN2A NM_021007.2(SCN2A): c.3457G> A (p.Glu1153Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200138205 GRCh38 Chromosome 2, 165365200: 165365200
18 SCN2A NM_021007.2(SCN2A): c.3457G> A (p.Glu1153Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs200138205 GRCh37 Chromosome 2, 166221710: 166221710
19 SCARB2 NM_005506.3(SCARB2): c.1010T> C (p.Met337Thr) single nucleotide variant Uncertain significance rs147324129 GRCh38 Chromosome 4, 76169970: 76169970
20 SCARB2 NM_005506.3(SCARB2): c.1010T> C (p.Met337Thr) single nucleotide variant Uncertain significance rs147324129 GRCh37 Chromosome 4, 77091123: 77091123
21 SCARB2 NM_005506.3(SCARB2): c.80G> A (p.Arg27Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs368906199 GRCh37 Chromosome 4, 77134617: 77134617
22 SCARB2 NM_005506.3(SCARB2): c.80G> A (p.Arg27Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs368906199 GRCh38 Chromosome 4, 76213464: 76213464
23 GABRG2 NM_198903.2(GABRG2): c.549-3T> G single nucleotide variant Conflicting interpretations of pathogenicity rs750459631 GRCh38 Chromosome 5, 162101232: 162101232
24 GABRG2 NM_198903.2(GABRG2): c.549-3T> G single nucleotide variant Conflicting interpretations of pathogenicity rs750459631 GRCh37 Chromosome 5, 161528238: 161528238
25 CNTNAP2 NM_014141.5(CNTNAP2): c.1249G> T (p.Asp417Tyr) single nucleotide variant Uncertain significance rs147815978 GRCh37 Chromosome 7, 146829502: 146829502
26 CNTNAP2 NM_014141.5(CNTNAP2): c.1249G> T (p.Asp417Tyr) single nucleotide variant Uncertain significance rs147815978 GRCh38 Chromosome 7, 147132410: 147132410
27 CNTNAP2 NM_014141.5(CNTNAP2): c.2147A> G (p.Tyr716Cys) single nucleotide variant Uncertain significance rs760930032 GRCh38 Chromosome 7, 147903613: 147903613
28 CNTNAP2 NM_014141.5(CNTNAP2): c.2147A> G (p.Tyr716Cys) single nucleotide variant Uncertain significance rs760930032 GRCh37 Chromosome 7, 147600705: 147600705
29 CNTNAP2 NM_014141.5(CNTNAP2): c.2290C> A (p.His764Asn) single nucleotide variant Uncertain significance rs201446615 GRCh38 Chromosome 7, 147977896: 147977896
30 CNTNAP2 NM_014141.5(CNTNAP2): c.2290C> A (p.His764Asn) single nucleotide variant Uncertain significance rs201446615 GRCh37 Chromosome 7, 147674988: 147674988
31 CNTNAP2 NM_014141.5(CNTNAP2): c.2651G> A (p.Arg884Gln) single nucleotide variant Uncertain significance rs758630057 GRCh37 Chromosome 7, 147844679: 147844679
32 CNTNAP2 NM_014141.5(CNTNAP2): c.2651G> A (p.Arg884Gln) single nucleotide variant Uncertain significance rs758630057 GRCh38 Chromosome 7, 148147587: 148147587
33 KCNQ3 NM_004519.3(KCNQ3): c.2263G> A (p.Asp755Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs150821246 GRCh37 Chromosome 8, 133141865: 133141865
34 KCNQ3 NM_004519.3(KCNQ3): c.2263G> A (p.Asp755Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs150821246 GRCh38 Chromosome 8, 132129618: 132129618
35 KCNQ3 NM_004519.3(KCNQ3): c.1885G> C (p.Val629Leu) single nucleotide variant Uncertain significance rs185511111 GRCh37 Chromosome 8, 133142243: 133142243
36 KCNQ3 NM_004519.3(KCNQ3): c.1885G> C (p.Val629Leu) single nucleotide variant Uncertain significance rs185511111 GRCh38 Chromosome 8, 132129996: 132129996
37 KCNT1 NM_020822.2(KCNT1): c.3641G> A (p.Arg1214Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138282349 GRCh37 Chromosome 9, 138683940: 138683940
38 KCNT1 NM_020822.2(KCNT1): c.3641G> A (p.Arg1214Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs138282349 GRCh38 Chromosome 9, 135792094: 135792094
39 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh37 Chromosome 21, 45194178: 45194178
40 CSTB NM_000100.3(CSTB): c.202C> T (p.Arg68Ter) single nucleotide variant Pathogenic rs74315442 GRCh38 Chromosome 21, 43774297: 43774297
41 GABRG2 NM_000816.3(GABRG2): c.968G> A (p.Arg323Gln) single nucleotide variant Pathogenic rs397514737 GRCh37 Chromosome 5, 161576159: 161576159
42 GABRG2 NM_000816.3(GABRG2): c.968G> A (p.Arg323Gln) single nucleotide variant Pathogenic rs397514737 GRCh38 Chromosome 5, 162149153: 162149153
43 SCN1A NM_006920.4(SCN1A): c.1625G> A (p.Arg542Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121918817 GRCh37 Chromosome 2, 166901590: 166901590
44 SCN1A NM_006920.4(SCN1A): c.1625G> A (p.Arg542Gln) single nucleotide variant Conflicting interpretations of pathogenicity rs121918817 GRCh38 Chromosome 2, 166045080: 166045080
45 SCN1A NM_006920.4(SCN1A): c.3488C> G (p.Thr1163Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121918799 GRCh37 Chromosome 2, 166872146: 166872146
46 SCN1A NM_006920.4(SCN1A): c.3488C> G (p.Thr1163Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs121918799 GRCh38 Chromosome 2, 166015636: 166015636
47 GRIN2A NM_000833.4(GRIN2A): c.1007+1G> A single nucleotide variant Pathogenic rs397518465 GRCh37 Chromosome 16, 10031815: 10031815
48 GRIN2A NM_000833.4(GRIN2A): c.1007+1G> A single nucleotide variant Pathogenic rs397518465 GRCh38 Chromosome 16, 9937958: 9937958
49 PCDH19 NM_001184880.1(PCDH19): c.3319C> G (p.Arg1107Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs191333060 GRCh37 Chromosome X, 99551403: 99551403
50 PCDH19 NM_001184880.1(PCDH19): c.3319C> G (p.Arg1107Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs191333060 GRCh38 Chromosome X, 100296405: 100296405

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

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 glutamatergic synapse GO:0098978 9.71 GRIN1 GRIN2A PLCB1 SCN2A
2 voltage-gated sodium channel complex GO:0001518 9.37 SCN1B SCN2A
3 NMDA selective glutamate receptor complex GO:0017146 9.32 GRIN1 GRIN2A
4 sodium channel complex GO:0034706 9.26 SCN1B SCN2A
5 GATOR1 complex GO:1990130 9.16 DEPDC5 SZT2
6 intercalated disc GO:0014704 9.13 SCN1B SCN2A SLC2A1
7 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:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.83 GABRG2 GRIN1 GRIN2A SCN2A
2 chemical synaptic transmission GO:0007268 9.81 GABRG2 GRIN2A KCNQ3 SCN1B
3 brain development GO:0007420 9.8 GRIN1 GRIN2A PLCB1 RELN
4 regulation of membrane potential GO:0042391 9.75 GABRG2 GRIN1 GRIN2A
5 ion transport GO:0006811 9.73 GABRG2 GRIN1 GRIN2A KCNQ3 SCN1B SCN2A
6 memory GO:0007613 9.65 GRIN1 GRIN2A PLCB1
7 MAPK cascade GO:0000165 9.63 GRIN1 SPTAN1 STRADA
8 ionotropic glutamate receptor signaling pathway GO:0035235 9.58 GRIN1 GRIN2A
9 positive regulation of long-term synaptic potentiation GO:1900273 9.57 GRIN2A RELN
10 negative regulation of TORC1 signaling GO:1904262 9.56 DEPDC5 SZT2
11 startle response GO:0001964 9.55 GRIN1 GRIN2A
12 glutamate receptor signaling pathway GO:0007215 9.54 GRIN2A PLCB1
13 learning GO:0007612 9.54 GRIN1 GRIN2A RELN
14 excitatory chemical synaptic transmission GO:0098976 9.43 GRIN1 GRIN2A
15 locomotion GO:0040011 9.4 GRIN2A SCN1B
16 cellular response to glucose starvation GO:0042149 9.33 SIK1B SLC2A1 SZT2
17 calcium ion transmembrane import into cytosol GO:0097553 9.32 GRIN1 GRIN2A
18 protein localization to postsynaptic membrane GO:1903539 8.96 GRIN1 GRIN2A
19 cerebral cortex development GO:0021987 8.92 GRIN1 PLCB1 RELN SLC2A1

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 9.61 KCNQ3 SCN1B SCN2A
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.58 GRIN1 GRIN2A SPTAN1
3 calmodulin binding GO:0005516 9.46 GRIN1 KCNQ3 PLCB1 SPTAN1
4 voltage-gated sodium channel activity GO:0005248 9.37 SCN1B SCN2A
5 ionotropic glutamate receptor activity GO:0004970 9.32 GRIN1 GRIN2A
6 NMDA glutamate receptor activity GO:0004972 9.26 GRIN1 GRIN2A
7 glutamate-gated calcium ion channel activity GO:0022849 8.96 GRIN1 GRIN2A
8 ion channel activity GO:0005216 8.92 GABRG2 GRIN1 GRIN2A SCN2A

Sources for Benign Epilepsy with Centrotemporal Spikes

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....