ECT
MCID: CNT106
MIFTS: 34

Centralopathic Epilepsy (ECT)

Categories: Neuronal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Centralopathic Epilepsy

MalaCards integrated aliases for Centralopathic Epilepsy:

Name: Centralopathic Epilepsy 57
Benign Rolandic Epilepsy 57 20 29 6 70
Benign Epilepsy of Childhood with Centrotemporal Spikes 57 20
Centrotemporal Epilepsy 57 13
Ect 57 73
Benign Epilepsy of Childhood with Centrotemporal Spikes; Bects 57
Benign Epilepsy with Centro-Temporal Spikes 20
Benign Rolandic Epilepsy of Childhood 20
Temporal-Central Focal Epilepsy 57
Centrotemporal Epilepsy; Ect 57
Bects 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
centralopathic epilepsy:
Inheritance sporadic


Classifications:



External Ids:

OMIM® 57 117100
MedGen 41 C2363129
UMLS 70 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) (Updated 20-May-2021)

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 bipolar disorder. An important gene associated with Centralopathic Epilepsy is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2). The drugs Topiramate and Carbamazepine have been mentioned in the context of this disorder. Affiliated tissues include heart, tongue and brain, and related phenotypes are eeg with centrotemporal focal spike waves and nocturnal seizures

GARD : 20 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 254)
# Related Disease Score Top Affiliating Genes
1 epilepsy, focal, with speech disorder and with or without mental retardation 11.3
2 bipolar disorder 11.2
3 benign epilepsy with centrotemporal spikes 11.1
4 mental depression 10.7
5 major depressive disorder 10.7
6 depression 10.6
7 endogenous depression 10.5
8 subacute delirium 10.5
9 major affective disorder 8 10.5
10 major affective disorder 9 10.5
11 amnestic disorder 10.5
12 seizure disorder 10.5
13 mood disorder 10.5
14 schizophrenia 10.5
15 melancholia 10.4
16 neuroleptic malignant syndrome 10.4
17 schizoaffective disorder 10.3
18 pachygyria 10.3
19 exanthem 10.3
20 sleep apnea 10.3
21 status epilepticus 10.3
22 parkinsonism 10.3
23 retrograde amnesia 10.3
24 psychotic disorder 10.2
25 anterograde amnesia 10.2
26 migraine with or without aura 1 10.2
27 tardive dyskinesia 10.2
28 personality disorder 10.2
29 atrial standstill 1 10.2
30 headache 10.2
31 major affective disorder 1 10.1
32 huntington disease 10.1
33 obsessive-compulsive disorder 10.1
34 cardiac arrest 10.1
35 paranoid schizophrenia 10.1
36 dementia 10.1
37 malignant hyperthermia 10.1
38 broken heart syndrome 10.1
39 hydrocephalus 10.1
40 post-traumatic stress disorder 10.1
41 ocular motor apraxia 10.0
42 covid-19 10.0
43 aortic aneurysm 10.0
44 mutism 10.0
45 vascular dementia 10.0
46 encephalitis 10.0
47 motion sickness 10.0
48 monosomy 7 myelodysplasia and leukemia syndrome 1 10.0
49 epilepsy, idiopathic generalized 10.0
50 ifap syndrome 2 10.0

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:

31
# Description HPO Frequency HPO Source Accession
1 eeg with centrotemporal focal spike waves 31 HP:0012557
2 nocturnal seizures 31 HP:0031951
3 bilateral tonic-clonic seizure with focal onset 31 HP:0007334

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

Drugs & Therapeutics for Centralopathic Epilepsy

Drugs for Centralopathic Epilepsy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# 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 Anticonvulsants Phase 4
4 Hypoglycemic Agents Phase 4
5
Sulthiame Approved Phase 3 61-56-3
6
Levetiracetam Approved Phase 3 102767-28-2 441341
7 Nootropic Agents Phase 3

Interventional clinical trials:


# 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 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.
3 Sleep Related Memory Consolidation in Children With Age Related Focal Epilepsy. Unknown status NCT03865771
4 Facial Emotion Decoding in Benign Partial Epilepsy of Childhood With Centrotemporal Spikes Unknown status NCT03465566
5 Sleep-dependent Memory Consolidation in Children With Sleep Diseases Completed NCT02785328
6 Impact of Repetitive Transcranial Magnetic Stimulation (TMS) on Spike Frequency and Brain Connectivity in Children With Benign Epilepsy With Centrotemporal Spike (BECTS) Enrolling by invitation NCT04325282

Search NIH Clinical Center for 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:

40
Heart, Tongue, Brain, Bone, Thyroid, Cortex, Skin

Publications for Centralopathic Epilepsy

Articles related to Centralopathic Epilepsy:

(show top 50) (show all 177)
# Title Authors PMID Year
1
Is benign rolandic epilepsy genetically determined? 61 57
15236411 2004
2
Analysis of ELP4, SRPX2, and interacting genes in typical and atypical rolandic epilepsy. 57
24995671 2014
3
KCNQ2 abnormality in BECTS: benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2. 6
22884718 2012
4
Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). 57
19172991 2009
5
A de novo KCNQ2 mutation detected in non-familial benign neonatal convulsions. 6
18640800 2009
6
KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. 6
18625963 2008
7
Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14. 57
9855510 1998
8
Genes and epilepsy. 57
2231646 1990
9
Benign epilepsy of childhood with centrotemporal EEG foci: a genetic study. 57
807473 1975
10
HEREDITARY CHARACTERISTICS OF FAMILIAL TEMPORAL-CENTRAL FOCAL EPILEPSY. 57
14320029 1965
11
EVIDENCE FOR A GENETIC ETIOLOGY OF TEMPORAL-CENTRAL ABNORMALITIES IN FOCAL EPILEPSY. 57
14197414 1964
12
Genetics of convulsive disorders. II. Genetic and electroencephalographic studies in centrencephalic epilepsy. 57
13769874 1961
13
Cognitive Disabilities and Long-term Outcomes in Children with Epilepsy: A Tangled Tail. 20
29249504 2017
14
Neuropsychological impairment in children with Rolandic epilepsy and in their siblings. 20
23708147 2013
15
Childhood seizures. 20
17950136 2007
16
Novel variant in CHRNA4 with benign childhood epilepsy with centrotemporal spikes and contribution to precise medicine. 61
32342646 2020
17
Focal cortical hypermetabolism in atypical benign rolandic epilepsy. 61
32086099 2020
18
Benign Rolandic epilepsy: widespread increases in connectivity in a focal epilepsy syndrome. 61
31829304 2019
19
Development of Ontology for Self-limited Epilepsy with Centrotemporal Spikes and Application of Data Mining Algorithms to Identify New Subtypes. 61
31507131 2019
20
Benign rolandic epilepsy of childhood and central auditory processing disorder: A noncasual neurophysiological association. 61
30384100 2018
21
Benign rolandic epilepsy and generalized paroxysms: A study of 13 patients. 61
29547828 2018
22
Tantrums, Emotion Reactions and Their EEG Correlates in Childhood Benign Rolandic Epilepsy vs. Complex Partial Seizures: Exploratory Observations. 61
29593509 2018
23
Sleep Related Epilepsy and Pharmacotherapy: An Insight. 61
30319421 2018
24
Benign Rolandic epilepsy presenting like paradoxical vocal fold motion. 61
29106865 2017
25
Epilepsy in fragile-X-syndrome mimicking panayiotopoulos syndrome: Description of three patients. 61
28815953 2017
26
Evaluation of the language profile in children with rolandic epilepsy and developmental dysphasia: Evidence for distinct strengths and weaknesses. 61
28391031 2017
27
Atypical features of benign rolandic epilepsy in Chinese children: Retrospective study. 61
28258599 2017
28
Oxcarbazepine-induced Stevens-Johnson syndrome: a pediatric case report. 61
28580160 2017
29
[Cognitive Development in Children with Benign Rolandic Epilepsy of Childhood with Centrotemporal Spikes - Results of a Current Systematic Database Search]. 61
27788553 2016
30
Not Necessarily Benign: Rolandic Epilepsy. 61
27582666 2016
31
Ripples on rolandic spikes: A marker of epilepsy severity. 61
27270830 2016
32
The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS. 61
26944271 2016
33
The Clinical Implications of Todd Paralysis in Children With Benign Rolandic Epilepsy. 61
26060308 2016
34
Incidental rolandic spikes: long-term outcomes and impact of treatment. 61
25623811 2015
35
Common pediatric epilepsy syndromes. 61
25658216 2015
36
Are children affected by epileptic neuropsychiatric comorbidities? 61
24239433 2014
37
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). 61
24594429 2014
38
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). 61
24426830 2014
39
The relationship between sleep-activated interictal epileptiform discharges and intelligence in children. 61
24494534 2013
40
Brain maturation and epilepsy. 61
23622192 2013
41
Epileptic encephalopathy with continuous spike-waves during slow-wave sleep including Landau-Kleffner syndrome. 61
23622211 2013
42
[Brain maturation and epilepsy]. 61
23424914 2012
43
Cognitive and other neuropsychological profiles in children with newly diagnosed benign rolandic epilepsy. 61
23133485 2012
44
Benign childhood focal epilepsies. 61
22946717 2012
45
A neuropsychological assessment, using computerized battery tests (CANTAB), in children with benign rolandic epilepsy before AED therapy. 61
22574100 2012
46
EEG background activity is abnormal in the temporal and inferior parietal cortex in benign rolandic epilepsy of childhood: a LORETA study. 61
21925841 2012
47
Two epileptic syndromes, one brain: childhood absence epilepsy and benign childhood epilepsy with centrotemporal spikes. 61
22000044 2012
48
Benign rolandic epileptiform discharges are associated with mood and behavior problems. 61
21862414 2011
49
Sleep and Epilepsy: Strange Bedfellows No More. 61
23539488 2011
50
Dilemmas in diagnostics and therapy of rolandic epilepsy. 61
21818923 2011

Variations for Centralopathic Epilepsy

ClinVar genetic disease variations for Centralopathic Epilepsy:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNQ2 NM_172107.4(KCNQ2):c.1776C>G (p.Ile592Met) SNV Pathogenic 369810 rs201868078 GRCh37: 20:62039877-62039877
GRCh38: 20:63408524-63408524
2 KCNQ2 NM_172107.4(KCNQ2):c.910_912TTC[1] (p.Phe305del) Microsatellite Pathogenic 211236 rs118192212 GRCh37: 20:62070963-62070965
GRCh38: 20:63439610-63439612

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
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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