ECT
MCID: CNT106
MIFTS: 39

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 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 KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2). The drugs Carbamazepine and Topiramate have been mentioned in the context of this disorder. Affiliated tissues include brain, tongue and bone, and related phenotypes are eeg with centrotemporal focal spike waves and nocturnal 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.

Wikipedia : 76 Jean Baptiste Point du Sable (before 1750 ? 1818) is honored as the first permanent non-Native-American... more...

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 111)
# Related Disease Score Top Affiliating Genes
1 epilepsy, focal, with speech disorder and with or without mental retardation 11.3
2 benign epilepsy with centrotemporal spikes 11.2
3 depression 10.6
4 childhood absence epilepsy 10.6
5 endogenous depression 10.3
6 temporal lobe epilepsy 10.3
7 melancholia 10.3
8 schizophrenia 10.2
9 major depressive disorder 10.2
10 retrograde amnesia 10.1
11 monosomy 7 of bone marrow 10.1
12 seizure disorder 10.1
13 neuroleptic malignant syndrome 10.1
14 benign neonatal seizures 10.0
15 landau-kleffner syndrome 10.0
16 homocystinuria 10.0
17 focal epilepsy 10.0
18 obsessive-compulsive disorder 9.9
19 hydrocephalus 9.9
20 mood disorder 9.9
21 schizoaffective disorder 9.9
22 tardive dyskinesia 9.9
23 opitz-kaveggia syndrome 9.9
24 butyrylcholinesterase deficiency 9.9
25 bipolar disorder 9.9
26 borderline personality disorder 9.9
27 pulmonary edema 9.9
28 cortical blindness 9.9
29 paranoid schizophrenia 9.9
30 personality disorder 9.9
31 epilepsy 9.9
32 anterograde amnesia 9.9
33 encephalitis 9.9
34 myocardial stunning 9.9
35 charles bonnet syndrome 9.9
36 cerebral aneurysms 9.9
37 foot drop 9.9
38 postpartum psychosis 9.9
39 progressive familial heart block, type ia 9.7
40 cardiac arrhythmia 9.7
41 major affective disorder 1 9.7
42 huntington disease 9.7
43 osteoporosis 9.7
44 parkinson disease, late-onset 9.7
45 ring dermoid of cornea 9.7
46 autism 9.7
47 hydrocephalus, normal-pressure 9.7
48 myasthenia gravis 9.7
49 sickle cell anemia 9.7
50 aceruloplasminemia 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 eeg with centrotemporal focal spike waves 32 HP:0012557
2 nocturnal seizures 32 HP:0031951
3 generalized tonic-clonic seizures with focal onset 32 HP:0007334
4 focal-onset seizure 32 HP:0007359

Drugs & Therapeutics for Centralopathic Epilepsy

Drugs for Centralopathic Epilepsy (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 Methylprednisolone acetate Phase 4
27 Prednisolone acetate Phase 4
28 Adjuvants, Anesthesia Phase 4
29 Neurotransmitter Agents Phase 4,Not Applicable
30 GABA Agents Phase 4,Not Applicable
31 Diuretics, Potassium Sparing Phase 4
32 Anesthetics, General Phase 4
33 Anesthetics, Intravenous Phase 4
34 Antiemetics Phase 4
35 Sodium Channel Blockers Phase 4
36 Neuromuscular Agents Phase 4
37 Autonomic Agents Phase 4
38 Hypnotics and Sedatives Phase 4,Not Applicable
39 Gastrointestinal Agents Phase 4
40 Anesthetics Phase 4
41 GABA Modulators Phase 4,Not Applicable
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 Emotion Recognition in Benign Epilepsy of Childhood With Centro-Temporal Spikes (BECTS) Recruiting NCT03465566
10 The Effect of Music Periodicity on Interictal Epileptiform Discharges Completed NCT01515436 Not Applicable
11 Effect of Auditory Stimulation on Spike Waves in Sleep Completed NCT02562885 Not Applicable

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, Bone, Cortex, Heart, Bone Marrow, Temporal Lobe

Publications for Centralopathic Epilepsy

Articles related to Centralopathic Epilepsy:

(show top 50) (show all 65)
# Title Authors Year
1
Benign rolandic epilepsy of childhood and central auditory processing disorder: A noncasual neurophysiological association. ( 30384100 )
2018
2
Benign rolandic epilepsy and generalized paroxysms: A study of 13 patients. ( 29547828 )
2018
3
Tantrums, Emotion Reactions and Their EEG Correlates in Childhood Benign Rolandic Epilepsy vs. Complex Partial Seizures: Exploratory Observations. ( 29593509 )
2018
4
Atypical features of benign rolandic epilepsy in Chinese children: Retrospective study. ( 28258599 )
2017
5
Benign Rolandic epilepsy presenting like paradoxical vocal fold motion. ( 29106865 )
2017
6
The Clinical Implications of Todd Paralysis in Children With Benign Rolandic Epilepsy. ( 26060308 )
2016
7
Not Necessarily Benign: Rolandic Epilepsy. ( 27582666 )
2016
8
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
9
Cognitive and other neuropsychological profiles in children with newly diagnosed benign rolandic epilepsy. ( 23133485 )
2012
10
EEG background activity is abnormal in the temporal and inferior parietal cortex in benign rolandic epilepsy of childhood: a LORETA study. ( 21925841 )
2012
11
A neuropsychological assessment, using computerized battery tests (CANTAB), in children with benign rolandic epilepsy before AED therapy. ( 22574100 )
2012
12
Focal epileptiform spikes do not show a canonical BOLD response in patients with benign rolandic epilepsy (BECTS). ( 20139011 )
2010
13
Cognitive deficits in children with benign rolandic epilepsy of childhood or rolandic discharges: a study of children between 4 and 7 years of age with and without seizures compared with healthy controls. ( 19879197 )
2009
14
Combined electroencephalography and magnetoencephalography of interictal spikes in benign rolandic epilepsy of childhood. ( 18164663 )
2008
15
Evidence for functional impairment but not structural disease in benign rolandic epilepsy. ( 18265882 )
2008
16
Cortical auditory dysfunction in benign rolandic epilepsy. ( 18266745 )
2008
17
Benign rolandic epilepsy -- perhaps not so benign: use of magnetic source imaging as a predictor of outcome. ( 18401032 )
2008
18
The effects on cognitive function and behavioral problems of topiramate compared to carbamazepine as monotherapy for children with benign rolandic epilepsy. ( 17561952 )
2007
19
Clinical and EEG characteristics of benign rolandic epilepsy in Chinese patients. ( 16806777 )
2007
20
Combined spike-related functional MRI and multiple source analysis in the non-invasive spike localization of benign rolandic epilepsy. ( 17317297 )
2007
21
Memory and phonological awareness in children with Benign Rolandic Epilepsy compared to a matched control group. ( 17531444 )
2007
22
A pilot study transitioning children onto levetiracetam monotherapy to improve language dysfunction associated with benign rolandic epilepsy. ( 17936689 )
2007
23
Quality of life of children with benign rolandic epilepsy. ( 16996395 )
2006
24
Bilateral oscillations for lateralized spikes in benign rolandic epilepsy. ( 16503119 )
2006
25
Analyzing the etiology of benign rolandic epilepsy: a multicenter twin collaboration. ( 16529620 )
2006
26
Longitudinal assessment of neuropsychologic and language function in children with benign rolandic epilepsy. ( 16948938 )
2006
27
Do children with benign rolandic epilepsy have a higher prevalence of migraine than those with other partial epilepsies or nonepilepsy controls? ( 17054690 )
2006
28
The neuropsychological and language profile of children with benign rolandic epilepsy. ( 15946332 )
2005
29
Acoustic effects of carbamazepine in benign rolandic epilepsy. ( 16140591 )
2005
30
Dipole in Benign Rolandic Epilepsy. ( 16398985 )
2005
31
Postictal paresis in children with benign rolandic epilepsy. ( 16417882 )
2005
32
Topography of spectral EEG and late VEP components in patients with benign rolandic epilepsy of childhood. ( 14767725 )
2004
33
Speech and language deterioration in benign rolandic epilepsy. ( 15032386 )
2004
34
Is benign rolandic epilepsy genetically determined? ( 15236411 )
2004
35
Patients with benign rolandic epilepsy have a longer duration of somatosensory evoked high-frequency oscillations. ( 15660858 )
2004
36
Magnetoencephalographic analysis of bilaterally synchronous discharges in benign rolandic epilepsy of childhood. ( 12967572 )
2003
37
Patterns of interictal spike propagation across the central sulcus in benign rolandic epilepsy. ( 14521277 )
2003
38
MEG localization of rolandic spikes with respect to SI and SII cortices in benign rolandic epilepsy. ( 14683709 )
2003
39
Population study of benign rolandic epilepsy: is treatment needed? ( 12177401 )
2002
40
Population study of benign rolandic epilepsy: is treatment needed? ( 11502931 )
2001
41
Contribution of motor cortex in generation of evoked spikes in patients with benign rolandic epilepsy. ( 10825702 )
2000
42
Benign rolandic epilepsy: clinical and electroencephalographic correlates. ( 11018822 )
2000
43
Cognitive and behavioral effects of carbamazepine in children: data from benign rolandic epilepsy. ( 10593548 )
1999
44
Benign rolandic epilepsy: neuropsychological findings. ( 10452925 )
1999
45
Are there generalised spike waves and typical absences in benign rolandic epilepsy? ( 10487473 )
1999
46
Spike topography and functional magnetic resonance imaging (fMRI) in benign rolandic epilepsy with spikes evoked by tapping stimulation. ( 9751280 )
1998
47
Localization analysis of neuronal activities in benign rolandic epilepsy using magnetoencephalography. ( 9562307 )
1998
48
Influence of somatosensory input on paroxysmal activity in benign rolandic epilepsy with 'extreme somatosensory evoked potentials'. ( 9577391 )
1998
49
Scalp topography and source analysis of interictal spontaneous spikes and evoked spikes by digital stimulation in benign rolandic epilepsy. ( 9743268 )
1998
50
Benign rolandic epilepsy and chromosome 7q deletion. ( 9075027 )
1997

Variations for Centralopathic Epilepsy

ClinVar genetic disease variations for Centralopathic Epilepsy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 KCNQ2 NM_172107.3(KCNQ2): c.1776C> G (p.Ile592Met) single nucleotide variant Pathogenic rs201868078 GRCh37 Chromosome 20, 62039877: 62039877
2 KCNQ2 NM_172107.3(KCNQ2): c.1776C> G (p.Ile592Met) single nucleotide variant Pathogenic rs201868078 GRCh38 Chromosome 20, 63408524: 63408524
3 KCNQ2 NM_172107.3(KCNQ2): c.913_915delTTC (p.Phe305del) deletion Pathogenic rs118192212 GRCh38 Chromosome 20, 63439610: 63439612
4 KCNQ2 NM_172107.3(KCNQ2): c.913_915delTTC (p.Phe305del) deletion Pathogenic rs118192212 GRCh37 Chromosome 20, 62070963: 62070965

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
Content
Loading form....