ECT
MCID: CNT106
MIFTS: 31

Centralopathic Epilepsy (ECT)

Categories: Rare diseases

Aliases & Classifications for Centralopathic Epilepsy

MalaCards integrated aliases for Centralopathic Epilepsy:

Name: Centralopathic Epilepsy 57
Benign Rolandic Epilepsy 57 53 29 73
Benign Epilepsy of Childhood with Centrotemporal Spikes 57 53
Centrotemporal Epilepsy 57 13
Ect 57 76
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
SNOMED-CT via HPO 69 29753000
UMLS 73 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 ECT (Centralopathic Epilepsy). The drugs Carbamazepine and Topiramate 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 seizures

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 all 19)
# Related Disease Score Top Affiliating Genes
1 epilepsy, focal, with speech disorder and with or without mental retardation 11.4
2 benign epilepsy with centrotemporal spikes 11.1
3 depression 10.5
4 childhood absence epilepsy 10.4
5 melancholia 10.2
6 major depressive disorder 10.1
7 endogenous depression 10.1
8 schizophrenia 10.0
9 cerebritis 10.0
10 retrograde amnesia 10.0
11 epilepsy 10.0
12 focal epilepsy 9.9
13 mood disorder 9.8
14 obsessive-compulsive disorder 9.7
15 opitz-kaveggia syndrome 9.7
16 butyrylcholinesterase deficiency 9.7
17 bipolar disorder 9.7
18 paranoid schizophrenia 9.7
19 personality disorder 9.7

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



Diseases related to Centralopathic Epilepsy

Symptoms & Phenotypes for Centralopathic Epilepsy

Symptoms via clinical synopsis from OMIM:

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

Clinical features from OMIM:

117100

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 seizures 32 HP:0007359
3 eeg with centrotemporal focal spike waves 32 HP:0012557

Drugs & Therapeutics for Centralopathic Epilepsy

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

(show all 23)
# 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 Etiracetam Investigational Phase 4,Phase 3,Phase 1 33996-58-6
5 Analgesics Phase 4
6 Analgesics, Non-Narcotic Phase 4
7 Anticonvulsants Phase 4,Phase 3,Phase 1,Not Applicable
8 Antimanic Agents Phase 4
9 Anti-Obesity Agents Phase 4
10 Central Nervous System Depressants Phase 4,Not Applicable
11 Cytochrome P-450 CYP3A Inducers Phase 4
12 Neuroprotective Agents Phase 4,Phase 3,Phase 1
13 Peripheral Nervous System Agents Phase 4
14 Protective Agents Phase 4,Phase 3,Phase 1
15 Psychotropic Drugs Phase 4
16 Tranquilizing Agents Phase 4
17 Nootropic Agents Phase 4,Phase 3,Phase 1
18
Sulthiame Experimental Phase 3 61-56-3
19
Zaleplon Approved, Illicit, Investigational Not Applicable 151319-34-5 5719
20 GABA Agents Not Applicable
21 GABA Modulators Not Applicable
22 Hypnotics and Sedatives Not Applicable
23 Neurotransmitter Agents Not Applicable

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 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 Brain Maturation in Children With Localization Related Epilepsy Active, not recruiting NCT02648529 Not Applicable
11 Emotion Recognition in Benign Epilepsy of Childhood With Centro-Temporal Spikes (BECTS) Not yet recruiting NCT03465566

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

Publications for Centralopathic Epilepsy

Articles related to Centralopathic Epilepsy:

# Title Authors Year
1
Cognitive and other neuropsychological profiles in children with newly diagnosed benign rolandic epilepsy. ( 23133485 )
2012
2
The effects on cognitive function and behavioral problems of topiramate compared to carbamazepine as monotherapy for children with benign rolandic epilepsy. ( 17561952 )
2007
3
Quality of life of children with benign rolandic epilepsy. ( 16996395 )
2006
4
Bilateral oscillations for lateralized spikes in benign rolandic epilepsy. ( 16503119 )
2006
5
The neuropsychological and language profile of children with benign rolandic epilepsy. ( 15946332 )
2005
6
Contribution of motor cortex in generation of evoked spikes in patients with benign rolandic epilepsy. ( 10825702 )
2000
7
Cognitive and behavioral effects of carbamazepine in children: data from benign rolandic epilepsy. ( 10593548 )
1999
8
Spike topography and functional magnetic resonance imaging (fMRI) in benign rolandic epilepsy with spikes evoked by tapping stimulation. ( 9751280 )
1998
9
Benign rolandic epilepsy and chromosome 7q deletion. ( 9075027 )
1997
10
Benign rolandic epilepsy of childhood: topographic EEG analysis. ( 1418492 )
1992

Variations for Centralopathic Epilepsy

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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