ECT
MCID: CNT106
MIFTS: 36

Centralopathic Epilepsy (ECT)

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Centralopathic Epilepsy

MalaCards integrated aliases for Centralopathic Epilepsy:

Name: Centralopathic Epilepsy 57
Benign Rolandic Epilepsy 57 53 29 6 72
Benign Epilepsy of Childhood with Centrotemporal Spikes 57 53
Centrotemporal Epilepsy 57 13
Ect 57 75
Benign Epilepsy of Childhood with Centrotemporal Spikes; Bects 57
Benign Epilepsy with Centro-Temporal Spikes 53
Benign Rolandic Epilepsy of Childhood 53
Temporal-Central Focal Epilepsy 57
Centrotemporal Epilepsy; Ect 57
Bects 57

Characteristics:

OMIM:

57
Inheritance:
isolated cases

Miscellaneous:
onset 5 to 10 years of age
most common form of childhood idiopathic epilepsy
seizures usually remit in adolescence
boys are more often affected than girls (3:2)
affected individuals may have learning or behavioral problems during the period when seizures occur


HPO:

32
centralopathic epilepsy:
Inheritance sporadic


Classifications:



External Ids:

OMIM 57 117100
MedGen 42 C2363129
UMLS 72 C2363129

Summaries for Centralopathic Epilepsy

OMIM : 57 Benign epilepsy of childhood with centrotemporal spikes (BECTS) or sharp waves, also known as rolandic epilepsy, is the most common idiopathic childhood epilepsy syndrome (Neubauer et al., 1998). It is termed 'rolandic' epilepsy because of the characteristic features of partial seizures involving the region around the lower portion of the central gyrus of Rolando. This results in classic focal seizures that affect the vocal tract, beginning with guttural sounds at the larynx and sensorimotor symptoms that progress to the tongue, mouth, and face, resulting in hypersalivation and speech arrest. Seizures most often occur in sleep shortly before awakening. The disorder occurs more often in boys than in girls (3:2). Rolandic epilepsy is considered a neurodevelopmental disorder, affecting 0.2% of the population. Affected individuals may have learning disabilities or behavioral problems; however, the seizures and accompanying problems usually remit during adolescence (summary by Strug et al., 2009). See also focal epilepsy and speech disorder (FESD; 245570), which is caused by mutation in the GRIN2A gene (138253) on chromosome 16p13. Some patients with GRIN2A mutations show features consistent with a clinical diagnosis of BECTS. Some patients with DEPDC5 (614191) mutations may show features consistent with rolandic epilepsy (see FFEVF, 604364). (117100)

MalaCards based summary : Centralopathic Epilepsy, also known as benign rolandic epilepsy, is related to epilepsy, focal, with speech disorder and with or without mental retardation and benign epilepsy with centrotemporal spikes. An important gene associated with Centralopathic Epilepsy is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2). The drugs Topiramate and Levetiracetam have been mentioned in the context of this disorder. Affiliated tissues include brain, tongue and cortex, and related phenotypes are generalized tonic-clonic seizures with focal onset and focal-onset seizure

NIH Rare Diseases : 53 Benign rolandic epilepsy (BRE) is the most common form of childhood epilepsy. It is referred to as "benign" because most children outgrow the condition by puberty. This form of epilepsy is characterized by seizures involving a part of the brain called the rolandic area. These seizures typically begin between the ages of 3 and 12 years and occur during the nighttime. Other features of BRE include headaches or migraines and behavioral and/or learning differences. BRE is thought to be a genetic disorder because most affected individuals have a family history of epilepsy. Treatment for BRE may depend on the symptoms and severity in each person. Because BRE resolves on its own before adulthood, many children with BRE who have infrequent seizures that only occur at night do not take anti-epileptic drugs (AEDs). However, there have been studies suggesting that BRE may cause lasting cognitive or behavioral problems in some people. Medication is more likely to be recommended in children with frequent or daytime seizures, cognitive impairment, or a learning disorder. Each family must consult with their physician(s) and make their own decision about whether to treat BRE.

Related Diseases for Centralopathic Epilepsy

Diseases related to Centralopathic Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 274)
# Related Disease Score Top Affiliating Genes
1 epilepsy, focal, with speech disorder and with or without mental retardation 11.8
2 benign epilepsy with centrotemporal spikes 11.4
3 depression 10.9
4 mental depression 10.7
5 major depressive disorder 10.7
6 seizure disorder 10.6
7 schizophrenia 10.6
8 visual epilepsy 10.6
9 endogenous depression 10.6
10 bipolar disorder 10.5
11 subacute delirium 10.5
12 major affective disorder 8 10.5
13 major affective disorder 9 10.5
14 amnestic disorder 10.5
15 mood disorder 10.5
16 melancholia 10.5
17 neuroleptic malignant syndrome 10.4
18 schizoaffective disorder 10.4
19 status epilepticus 10.3
20 retrograde amnesia 10.3
21 migraine with or without aura 1 10.3
22 dementia 10.3
23 exanthem 10.3
24 sleep apnea 10.3
25 pachygyria 10.3
26 aneurysm 10.3
27 psychotic disorder 10.2
28 tardive dyskinesia 10.2
29 personality disorder 10.2
30 anterograde amnesia 10.2
31 atrial standstill 1 10.2
32 cardiac arrest 10.2
33 headache 10.2
34 major affective disorder 1 10.2
35 huntington disease 10.2
36 obsessive-compulsive disorder 10.2
37 paranoid schizophrenia 10.2
38 malignant hyperthermia 10.2
39 broken heart syndrome 10.2
40 autism 10.1
41 hydrocephalus 10.1
42 disease of mental health 10.1
43 diabetes mellitus 10.1
44 47,xyy 10.1
45 48,xyyy 10.1
46 congenital hydrocephalus 10.1
47 osteoporosis 10.1
48 ocular motor apraxia 10.1
49 hydrops, lactic acidosis, and sideroblastic anemia 10.1
50 aortic aneurysm 10.1

Graphical network of the top 20 diseases related to Centralopathic Epilepsy:



Diseases related to Centralopathic Epilepsy

Symptoms & Phenotypes for Centralopathic Epilepsy

Human phenotypes related to Centralopathic Epilepsy:

32
# Description HPO Frequency HPO Source Accession
1 generalized tonic-clonic seizures with focal onset 32 HP:0007334
2 focal-onset seizure 32 HP:0007359
3 eeg with centrotemporal focal spike waves 32 HP:0012557
4 nocturnal seizures 32 HP:0031951

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
nocturnal seizures
seizures, partial, unilateral
generalized tonic-clonic seizures, secondary
seizures affect the vocal cords, lips, mouth, and face
difficulty speaking during seizures
more

Clinical features from OMIM:

117100

Drugs & Therapeutics for Centralopathic Epilepsy

Drugs for Centralopathic Epilepsy (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
Levetiracetam Approved, Investigational Phase 4 102767-28-2 441341
3
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
4
Oxcarbazepine Approved Phase 4 28721-07-5 34312
5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
6
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
7
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
8
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
9
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
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 Nootropic Agents Phase 4
14 Anticonvulsants Phase 4
15 Neurotransmitter Agents Phase 4
16 Cytochrome P-450 CYP3A Inducers Phase 4
17 Analgesics Phase 4
18 Gastrointestinal Agents Phase 4
19 Neuromuscular Agents Phase 4
20 Tranquilizing Agents Phase 4
21 Antiemetics Phase 4
22 Anti-Anxiety Agents Phase 4
23 Sodium Channel Blockers Phase 4
24 Analgesics, Non-Narcotic Phase 4
25 Prednisolone acetate Phase 4
26 Cytochrome P-450 Enzyme Inducers Phase 4
27 Diuretics, Potassium Sparing Phase 4
28 GABA Agents Phase 4
29 Adjuvants, Anesthesia Phase 4
30 Peripheral Nervous System Agents Phase 4
31 Antimanic Agents Phase 4
32 Methylprednisolone Acetate Phase 4
33 Hypnotics and Sedatives Phase 4
34 Central Nervous System Depressants Phase 4
35 GABA Modulators Phase 4
36 Anesthetics Phase 4
37 Anesthetics, General Phase 4
38 Psychotropic Drugs Phase 4
39 Anesthetics, Intravenous Phase 4
40 Autonomic Agents Phase 4
41
Sulthiame Experimental Phase 3 61-56-3

Interventional clinical trials:

(show all 11)
# 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 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-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.
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
7 Effect of Closed-loop Auditory Stimulation on Spike Waves During Slow Wave Sleep, an Open Label Pilot Study Completed NCT02562885
8 Sleep-dependent Memory Consolidation in Children With Sleep Diseases Completed NCT02785328
9 Sleep Related Memory Consolidation in Children With Age Related Focal Epilepsy. Recruiting NCT03865771
10 Facial Emotion Decoding in Benign Partial Epilepsy of Childhood With Centrotemporal Spikes Recruiting NCT03465566
11 Rolandic Epilepsy Genomewide Association International Study Recruiting NCT03547050

Search NIH Clinical Center for Centralopathic Epilepsy

Genetic Tests for Centralopathic Epilepsy

Genetic tests related to Centralopathic Epilepsy:

# Genetic test Affiliating Genes
1 Benign Rolandic Epilepsy 29

Anatomical Context for Centralopathic Epilepsy

MalaCards organs/tissues related to Centralopathic Epilepsy:

41
Brain, Tongue, Cortex, Testes

Publications for Centralopathic Epilepsy

Articles related to Centralopathic Epilepsy:

(show top 50) (show all 170)
# Title Authors PMID Year
1
Is benign rolandic epilepsy genetically determined? 38 8
15236411 2004
2
Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. 8
24995671 2014
3
Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). 8
19172991 2009
4
Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14. 8
9855510 1998
5
Genes and epilepsy. 8
2231646 1990
6
Benign epilepsy of childhood with centrotemporal EEG foci: a genetic study. 8
807473 1975
7
HEREDITARY CHARACTERISTICS OF FAMILIAL TEMPORAL-CENTRAL FOCAL EPILEPSY. 8
14320029 1965
8
EVIDENCE FOR A GENETIC ETIOLOGY OF TEMPORAL-CENTRAL ABNORMALITIES IN FOCAL EPILEPSY. 8
14197414 1964
9
Genetics of convulsive disorders. II. Genetic and electroencephalographic studies in centrencephalic epilepsy. 8
13769874 1961
10
Cognitive Disabilities and Long-term Outcomes in Children with Epilepsy: A Tangled Tail. 6
29249504 2017
11
Neuropsychological impairment in children with Rolandic epilepsy and in their siblings. 6
23708147 2013
12
Childhood seizures. 6
17950136 2007
13
Benign rolandic epilepsy of childhood and central auditory processing disorder: A noncasual neurophysiological association. 38
30384100 2018
14
Benign rolandic epilepsy and generalized paroxysms: A study of 13 patients. 38
29547828 2018
15
Tantrums, Emotion Reactions and Their EEG Correlates in Childhood Benign Rolandic Epilepsy vs. Complex Partial Seizures: Exploratory Observations. 38
29593509 2018
16
Sleep Related Epilepsy and Pharmacotherapy: An Insight. 38
30319421 2018
17
Benign Rolandic epilepsy presenting like paradoxical vocal fold motion. 38
29106865 2017
18
Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients. 38
28815953 2017
19
Evaluation of the language profile in children with rolandic epilepsy and developmental dysphasia: Evidence for distinct strengths and weaknesses. 38
28391031 2017
20
Atypical features of benign rolandic epilepsy in Chinese children: Retrospective study. 38
28258599 2017
21
Oxcarbazepine-induced Stevens-Johnson syndrome: a pediatric case report. 38
28580160 2017
22
[Cognitive Development in Children with Benign Rolandic Epilepsy of Childhood with Centrotemporal Spikes - Results of a Current Systematic Database Search]. 38
27788553 2016
23
Not Necessarily Benign: Rolandic Epilepsy. 38
27582666 2016
24
Ripples on rolandic spikes: A marker of epilepsy severity. 38
27270830 2016
25
The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS. 38
26944271 2016
26
The Clinical Implications of Todd Paralysis in Children With Benign Rolandic Epilepsy. 38
26060308 2016
27
Incidental rolandic spikes: long-term outcomes and impact of treatment. 38
25623811 2015
28
Common pediatric epilepsy syndromes. 38
25658216 2015
29
Are children affected by epileptic neuropsychiatric comorbidities? 38
24239433 2014
30
Risk factors of cognitive outcome in patients with atypical benign partial epilepsy/pseudo-Lennox syndrome (ABPE/PLS) and continues spike and wave during sleep (CSWS). 38
24594429 2014
31
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). 38
24426830 2014
32
The relationship between sleep-activated interictal epileptiform discharges and intelligence in children. 38
24494534 2013
33
Brain maturation and epilepsy. 38
23622192 2013
34
Epileptic encephalopathy with continuous spike-waves during slow-wave sleep including Landau-Kleffner syndrome. 38
23622211 2013
35
[Brain maturation and epilepsy]. 38
23424914 2012
36
Cognitive and other neuropsychological profiles in children with newly diagnosed benign rolandic epilepsy. 38
23133485 2012
37
Benign childhood focal epilepsies. 38
22946717 2012
38
A neuropsychological assessment, using computerized battery tests (CANTAB), in children with benign rolandic epilepsy before AED therapy. 38
22574100 2012
39
Two epileptic syndromes, one brain: childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes. 38
22000044 2012
40
EEG background activity is abnormal in the temporal and inferior parietal cortex in benign rolandic epilepsy of childhood: a LORETA study. 38
21925841 2012
41
Benign rolandic epileptiform discharges are associated with mood and behavior problems. 38
21862414 2011
42
Sleep and Epilepsy: Strange Bedfellows No More. 38
23539488 2011
43
Dilemmas in diagnostics and therapy of rolandic epilepsy. 38
21818923 2011
44
Benign nocturnal alternating hemiplegia of childhood: two cases with positive evolution. 38
20817433 2011
45
[The new International League Against Epilepsy (ILAE) classification of epilepsies: a step in the wrong direction?]. 38
21484726 2011
46
Benign partial seizures of adolescence. 38
21555795 2011
47
[Interictal epileptiform discharges and cognitive impairment in children]. 38
21365603 2011
48
[Convulsive status epilepticus in children]. 38
21553458 2010
49
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region. 38
20384727 2010
50
Levetiracetam in childhood epilepsy. 38
20486734 2010

Variations for Centralopathic Epilepsy

ClinVar genetic disease variations for Centralopathic Epilepsy:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 KCNQ2 NM_172107.4(KCNQ2): c.910_912TTC[1] (p.Phe305del) short repeat Pathogenic rs118192212 20:62070963-62070965 20:63439610-63439612
2 KCNQ2 NM_172107.4(KCNQ2): c.1776C> G (p.Ile592Met) single nucleotide variant Pathogenic rs201868078 20:62039877-62039877 20:63408524-63408524

Expression for Centralopathic Epilepsy

Search GEO for disease gene expression data for Centralopathic Epilepsy.

Pathways for Centralopathic Epilepsy

GO Terms for Centralopathic Epilepsy

Sources for Centralopathic Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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