MCID: SZR006
MIFTS: 56

Seizure Disorder malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Seizure Disorder

Aliases & Descriptions for Seizure Disorder:

Name: Seizure Disorder 51 29 29 29 29
Epilepsy 69
Seizures 41

Classifications:



Summaries for Seizure Disorder

NINDS : 51 The epilepsies are a spectrum of brain disorders ranging from severe, life-threatening and disabling, to ones that are much more benign. In epilepsy, the normal pattern of neuronal activity becomes disturbed, causing strange sensations, emotions, and behavior or sometimes convulsions, muscle spasms, and loss of consciousness. The epilepsies have many possible causes and there are several types of seizures. Anything that disturbs the normal pattern of neuron activity—from illness to brain damage to abnormal brain development—can lead to seizures. Epilepsy may develop because of an abnormality in brain wiring, an imbalance of nerve signaling chemicals called neurotransmitters, changes in important features of brain cells called channels, or some combination of these and other factors. Having a single seizure as the result of a high fever (called febrile seizure) or head injury does not necessarily mean that a person has epilepsy. Only when a person has had two or more seizures is he or she considered to have epilepsy. A measurement of electrical activity in the brain and brain scans such as magnetic resonance imaging or computed tomography are common diagnostic tests for epilepsy.

MalaCards based summary : Seizure Disorder, also known as epilepsy, is related to epileptic encephalopathy, early infantile, 11 and febrile seizures, and has symptoms including back pain, headache and pain. An important gene associated with Seizure Disorder is TANGO2 (Transport And Golgi Organization 2 Homolog), and among its related pathways/superpathways are Neuroscience and L1CAM interactions. The drugs Ethanol and Dopamine have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and testes, and related phenotype is behavior/neurological.

MedlinePlus : 41 seizures are symptoms of a brain problem. they happen because of sudden, abnormal electrical activity in the brain. when people think of seizures, they often think of convulsions in which a person's body shakes rapidly and uncontrollably. not all seizures cause convulsions. there are many types of seizures and some have mild symptoms. seizures fall into two main groups. focal seizures, also called partial seizures, happen in just one part of the brain. generalized seizures are a result of abnormal activity on both sides of the brain. most seizures last from 30 seconds to 2 minutes and do not cause lasting harm. however, it is a medical emergency if seizures last longer than 5 minutes or if a person has many seizures and does not wake up between them. seizures can have many causes, including medicines, high fevers, head injuries and certain diseases. people who have recurring seizures due to a brain disorder have epilepsy. nih: national institute of neurological disorders and stroke

Wikipedia : 71 Epilepsy is a group of neurological disorders characterized by epileptic seizures. Epileptic seizures... more...

Related Diseases for Seizure Disorder

Diseases in the Seizure Disorder family:

Seizures, Benign Familial Infantile, 4 Seizures, Benign Familial Infantile, 3
Seizures, Benign Familial Infantile, 2 Seizures, Benign Familial Infantile, 1
Scn1a-Related Seizure Disorders Seizures, Benign Familial Infantile, 5

Diseases related to Seizure Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 107)
id Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 11 30.9 KCNQ2 SCN1A SCN2A
2 febrile seizures 12.1
3 scn1a-related seizure disorders 12.1
4 malignant migrating partial seizures of infancy 12.1
5 benign neonatal seizures 12.0
6 multiple congenital anomalies-hypotonia-seizures syndrome 1 12.0
7 kifafa seizure disorder 11.8
8 early myoclonic encephalopathy 10.7
9 wolf-hirschhorn syndrome 10.7
10 epileptic encephalopathy, early infantile, 7 10.5
11 dravet syndrome 10.3
12 epilepsy, generalized, with febrile seizures plus, type 3 10.3
13 west syndrome 10.3
14 febrile seizures, familial, 11 10.3
15 cerebral palsy 10.3
16 epilepsy, focal, with speech disorder and with or without mental retardation 10.3
17 pyridoxamine 5'-phosphate oxidase deficiency 10.3
18 seizures, benign familial infantile, 1 10.3
19 epilepsy, generalized, with febrile seizures plus, type 1 10.3
20 epilepsy, generalized, with febrile seizures plus, type 2 10.3
21 mental retardation, x-linked 12/35 10.3
22 hypomyelinating leukodystrophy 12 10.3
23 febrile seizures, familial, 3b 10.3
24 adult brain ependymoma 10.2 SCN1A SCN2A
25 suppurative cholangitis 10.2 KCNQ2 SCN2A
26 spastic paraplegia 2, x-linked 10.1 KCNQ2 SCN1A
27 atrial fibrillation and stroke 10.1 PRRT2 SCN1A
28 adolescence-adult electroclinical syndrome 10.1 KCNQ2 SCN1A SCN2A
29 acro-pectoro-renal dysplasia 10.1 PRRT2 SCN1A
30 hydromyelia 10.1 KCNQ2 SCN1A SCN2A
31 deafness, autosomal recessive 65 10.1 KCNQ2 SCN1A
32 gamma-amino butyric acid metabolism disorder 10.1 KCNQ2 SCN1A SCN2A
33 epileptic encephalopathy, early infantile, 15 10.1 KCNQ2 SCN1A SCN2A
34 brachydactyly, type e 10.1 KCNQ2 SCN1A SCN2A
35 floppy infant syndrome 10.1 KCNQ2 SCN1A SCN2A
36 wagro syndrome 10.1 KCNQ2 PRRT2
37 gingival disease 10.1 KCNQ2 PRRT2 SCN2A
38 placental abruption 10.0 PRRT2 SCN2A
39 gaba aminotransferase deficiency 10.0 KCNQ2 PRRT2 SCN2A
40 hemorrhagic shock and encephalopathy syndrome 10.0 GNB1 PRRT2 SCN1A
41 paroxysmal nonkinesigenic dyskinesia 10.0 CUL4B GNB1
42 epilepsy 9.9
43 early onset absence epilepsy 9.9 KCNQ2 PRRT2 SCN1A SCN2A
44 sjogren's syndrome 9.9 FRRS1L PRRT2
45 insulinoma 9.8
46 glioma 9.7
47 panic disorder 9.7
48 aphasia 9.7
49 microcephaly 9.6
50 weber syndrome 9.6

Comorbidity relations with Seizure Disorder via Phenotypic Disease Network (PDN):


Acute Cystitis

Graphical network of the top 20 diseases related to Seizure Disorder:



Diseases related to Seizure Disorder

Symptoms & Phenotypes for Seizure Disorder

UMLS symptoms related to Seizure Disorder:


back pain, headache, pain, sciatica, seizures, syncope, tremor, chronic pain, vertigo/dizziness, non-epileptic convulsion, seizures, focal, sleeplessness

MGI Mouse Phenotypes related to Seizure Disorder:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.17 CUL4B FRRS1L GNB1 KCNQ2 PRRT2 SCN1A

Drugs & Therapeutics for Seizure Disorder

Drugs for Seizure Disorder (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 783)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1 64-17-5 702
2
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
3
Mannitol Approved, Investigational Phase 4,Phase 3,Phase 2 69-65-8 453 6251
4
Vigabatrin Approved Phase 4,Phase 3,Phase 1,Phase 2 68506-86-5, 60643-86-9 5665
5
Tiagabine Approved Phase 4,Phase 2,Phase 1 115103-54-3 60648
6
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60142-96-3 3446
7
Lamotrigine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 84057-84-1 3878
8
Phenytoin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 57-41-0 1775
9
Carbamazepine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 298-46-4 2554
10
Zinc Approved Phase 4,Phase 2,Phase 1 7440-66-6 32051 23994
11
Verapamil Approved Phase 4,Phase 2 52-53-9 2520
12
Epinephrine Approved, Vet_approved Phase 4,Phase 3 51-43-4 5816
13
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1 59467-70-8 4192
14
Phenobarbital Approved Phase 4,Phase 3,Phase 1,Phase 2 50-06-6 4763
15
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 57-27-2 5288826
16
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 99-66-1 3121
17
Donepezil Approved Phase 4,Phase 3 120014-06-4 3152
18
Acetylcholine Approved Phase 4,Phase 2 51-84-3 187
19
Succinylcholine Approved Phase 4 306-40-1 5314
20 Piracetam Approved Phase 4,Phase 3,Phase 2,Phase 1 7491-74-9
21
Topiramate Approved Phase 4,Phase 3,Phase 2,Phase 1 97240-79-4 5284627
22
Methylphenidate Approved, Investigational Phase 4,Phase 2 113-45-1 4158
23
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 50-24-8 5755
24
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 22916-47-8 4189
25
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
26
Lidocaine Approved, Vet_approved Phase 4,Phase 3 137-58-6 3676
27
Zonisamide Approved, Investigational Phase 4,Phase 3,Phase 2 68291-97-4 5734
28
Acetazolamide Approved, Vet_approved Phase 4,Phase 2,Phase 3 59-66-5 1986
29
Remifentanil Approved Phase 4 132875-61-7 60815
30
Amitriptyline Approved Phase 4,Phase 3 50-48-6 2160
31
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2 6740-88-1 3821
32
Tranexamic Acid Approved Phase 4,Phase 3,Phase 2 1197-18-8 5526
33
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 159351-69-6 6442177
34
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 2078-54-8 4943
35
Felbamate Approved Phase 4 25451-15-4 3331
36
Perphenazine Approved Phase 4,Phase 3 58-39-9 4748
37
Lorazepam Approved Phase 4,Phase 3,Phase 2,Phase 1 846-49-1 3958
38
Clonazepam Approved, Illicit Phase 4,Phase 3,Phase 2 1622-61-3 2802
39
Oxcarbazepine Approved Phase 4,Phase 2,Phase 3,Phase 1 28721-07-5 34312
40
Benzocaine Approved Phase 4,Phase 2,Phase 3,Phase 1 1994-09-7, 94-09-7 2337
41
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1 148553-50-8 5486971
42
Ethosuximide Approved Phase 4,Phase 3 77-67-8 3291
43
Clobazam Approved, Illicit Phase 4,Phase 3,Phase 2 22316-47-8 2789
44
Nitrazepam Approved Phase 4,Phase 2 146-22-5 4506
45
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2 83-43-2 6741
46
Lacosamide Approved Phase 4,Phase 3,Phase 2,Phase 1 860352-01-8, 175481-36-4 219078
47
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 53123-88-9 5284616 6436030 46835353
48
Magnesium Sulfate Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 7487-88-9 24083
49
Guaifenesin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 93-14-1 3516
50
Norepinephrine Approved Phase 4 51-41-2 439260

Interventional clinical trials:

(show top 50) (show all 2112)
id Name Status NCT ID Phase
1 Study on the Efficacy of Phenytoin in the Prophylaxis of Seizures of Patients With Pneumococcal Meningitis at Least 50 Yrs Old. Unknown status NCT01478035 Phase 4
2 Seizure Prophylaxis With Levetiracetam in Aneurysmal Subarachnoid Hemorrhage - Pilot Study Unknown status NCT01935908 Phase 4
3 Melatonin Versus Placebo in the Lennox-Gastaut Syndrome: Neurophysiological and Neuropsychological Effects Unknown status NCT01370486 Phase 4
4 Effect of the Addition of Ketamine to Sevoflurane Anesthesia in Electroconvulsive Therapy Unknown status NCT02267980 Phase 4
5 Topiramate Treatment for Patients With Epilepsy and Learning Disability : A Prospective Observational Study Unknown status NCT00956696 Phase 4
6 The Effects of Remifentanil on Attenuating the Hemodynamic Responses After Electroconvulsive Therapy Unknown status NCT02271555 Phase 4
7 Cognitive and Behavioral Effects of Lacosamide Unknown status NCT01175954 Phase 4
8 Ketogenic Diet vs.Antiepileptic Drug Treatment in Drug Resistant Epilepsy Unknown status NCT00552526 Phase 4
9 A Trial of Generic Substitution of Antiepileptic Drugs Unknown status NCT02429596 Phase 4
10 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
11 The Benefit of Prophylactic Anticonvulsant in Post Cardiac Arrest Syndrome With Induced Mild Hypothermia Unknown status NCT01083784 Phase 4
12 The Impact of Reducing Overtreatment on Quality of Life in Children With Refractory Epilepsy Unknown status NCT00647322 Phase 4
13 Levetiracetam Treatment of Children With Subclinical Sleep-Activated Epileptiform Activity (SSEA) Unknown status NCT00393614 Phase 4
14 Study to Improve the Treatment of Epilepsy (SITE) Unknown status NCT00133081 Phase 4
15 BEEP Follow Up: Evaluation of Repeatability of Lamotrigine Pharmacokinetics in Epileptic Patients Unknown status NCT02404168 Phase 4
16 Buccal Midazolam Versus Nasal or Oral Midazolam Sedation for Minor Invasive Procedures in Children Unknown status NCT02408302 Phase 4
17 Normoglycemia and Neurological Outcome Unknown status NCT01137773 Phase 4
18 Botox for Neurogenic Detrusor Overactivity and the Prevention of Autonomic Dysreflexia Following SCI Unknown status NCT02298660 Phase 4
19 Clinical Study of Xingnaojing for the Treatment of Convulsive Diseases Unknown status NCT00796380 Phase 4
20 Bilateral Cochlear Implant Benefit in Young Children Unknown status NCT00424307 Phase 4
21 A Novel Method of Preoxygenation Using a Bain Circuit Unknown status NCT00958178 Phase 4
22 A Clinical Trial of the Effect of Midazolam on the Cerebral Metabolism and Inflammatory Response in Patients With Moderate and Severe Traumatic Brain Injury Unknown status NCT02071407 Phase 4
23 Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant Unknown status NCT00331539 Phase 4
24 Effect of Subanesthetic Dose of Ketamine Combined With Propofol on Cognitive Function in Depressive Patients Undergoing Electroconvulsive Therapy Unknown status NCT02305394 Phase 4
25 Correlation Between SV2A Expression in Tumour Tissue and Efficacy of Levetiracetam in Glioma Patients With Epilepsy Unknown status NCT00454935 Phase 4
26 Hormone Profiles in Adults With Newly Diagnosed Epilepsy Unknown status NCT00137709 Phase 4
27 Compare Tolerability of an Overnight Switch to Gradual Switch Between Two Different Forms of Depakote Unknown status NCT00312676 Phase 4
28 Effects on the Diagnostic Accuracy of Magnetic Imaging Angiographies of the Supra-Aortic Vessels by Three Different Magnetic Resonance Contrast Agents in Patients Unknown status NCT00132223 Phase 4
29 A Study to Evaluate the Safety and Efficacy of Zonisamide an Antiepileptic Drug as Monotherapy or Adjunctive Therapy in Treatment of Adult Patients With Partial, Generalized or Combined Seizures. Completed NCT01283256 Phase 4
30 IV Keppra in the Emergency Department for Prevention of Early Recurrent Seizures Completed NCT00510783 Phase 4
31 Pregabalin In Partial Seizures: An Open-Label, International, Multicenter Add-On Therapy Trial. Completed NCT00141427 Phase 4
32 Antipyretics for Preventing Recurrences of Febrile Seizures Completed NCT00568217 Phase 4
33 Effect of Carbamazepine and Oxcarbazepine on Serum Neuron-specific Enolase in Focal Seizures Completed NCT02705768 Phase 4
34 Comparative Study Of Pregabalin And Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures Completed NCT00537940 Phase 4
35 Lyrica (Pregabalin) Administered as an Add-on Therapy for Partial Seizures (LEADER). Completed NCT00288639 Phase 4
36 Treatment Trial for Psychogenic Nonepileptic Seizures Completed NCT00835627 Phase 4
37 Efficacy, Safety, and Tolerability of Oxcarbazepine Monotherapy in Children With Partial Seizures Completed NCT00275912 Phase 4
38 A Study of the Structure and Function of the Retina in Adult Patients With Refractory Complex Partial Seizures Treated With Vigabatrin (Sabril®) Completed NCT01278173 Phase 4
39 Treatment Of Primary Generalized Tonic-Clonic Seizures With An Investigational New Drug Completed NCT00043901 Phase 4
40 Safety and Efficacy of Oxcarbazepine Monotherapy in Adults With Partial Seizures Completed NCT00275925 Phase 4
41 Assess Safety and Efficacy of Levetiracetam(LEV;Keppra)for Seizure Prevention Completed NCT00618436 Phase 4
42 Trial to Assess Lacosamide as the First add-on Anti-epileptic Drug Treatment in Patients With Partial-onset Seizures Completed NCT00955357 Phase 4
43 Treatments for Psychogenic Nonepileptic Seizures (NES) Completed NCT00159965 Phase 4
44 Open Label, Zonegran (Zonisamide) In Partial Onset Seizures Completed NCT00215592 Phase 4
45 Non-Interventional Study With LYRICA (Pregabalin) In Patients With Epilepsy As Adjunctive Therapy Of Partial Seizures To Reduce Seizure Frequency Completed NCT00684424 Phase 4
46 Safety and Efficacy of Eslicarbazepine Acetate as Adjunctive Therapy for Partial Seizures in Elderly Patients Completed NCT01422720 Phase 4
47 Heart Rate Changes During Normal Activity, Exercise, and Seizures in Subjects With Epilepsy Completed NCT01214707 Phase 4
48 ZAGAL Study: Evaluating Effectiveness and Tolerability of Zonisamide as Adjunctive Therapy in Patients With Partial Onset Seizures Treated With Two Antiepileptic Drugs Completed NCT00659958 Phase 4
49 Levetiracetam Versus Topiramate as Adjunctive Therapy to Evaluate Efficacy and Safety in Subjects With Refractory Partial Onset Seizures Completed NCT01229735 Phase 4
50 Evaluation of the Efficacy and Safety of Adjunctive Zonisamide vs Replacement With Zonisamide of the Last Added Antiepileptic Drug Completed NCT01630057 Phase 4

Search NIH Clinical Center for Seizure Disorder

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Genetic Tests for Seizure Disorder

Genetic tests related to Seizure Disorder:

id Genetic test Affiliating Genes
1 Seizure Disorders 29
2 Seizures 29
3 Seizure 29

Anatomical Context for Seizure Disorder

MalaCards organs/tissues related to Seizure Disorder:

39
Brain, Bone, Testes, Temporal Lobe, Heart, Eye, Kidney

Publications for Seizure Disorder

Articles related to Seizure Disorder:

(show top 50) (show all 208)
id Title Authors Year
1
Epilepsy or seizure disorder? The effect of cultural and socioeconomic factors on self-reported prevalence. ( 27494358 )
2016
2
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. ( 27541164 )
2016
3
A method for deciding about the possible safety of modafinil and armodafinil in patients with seizure disorder. ( 26845275 )
2016
4
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. ( 27550844 )
2016
5
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. ( 26740507 )
2016
6
Treatment-resistant mania in Dandy-Walker malformation with seizure disorder: A case report. ( 26962361 )
2015
7
Basal transethmoidal encephalocele and malignant hypertension in a parturient with a seizure disorder. A case report. ( 25745752 )
2015
8
Vegetating plaques in a patient with a seizure disorder. ( 26018379 )
2015
9
Fish consumption in individuals with Down syndrome with seizure disorder: News for prescription. ( 25625531 )
2015
10
A Case Report of Klinefelter Syndrome with Schizophrenia-Like Psychosis and Seizure Disorder. ( 26664093 )
2015
11
Development of mania with carbamazepine for treatment of seizure disorder in a 7-year-old boy. ( 25650677 )
2015
12
The impact of co-morbid seizure disorder on neuropsychological functioning in children and adolescents with FASD. ( 26531612 )
2015
13
Lennox-lombroso lecture, 2013: psychiatric comorbidities through the life of the seizure disorder: a complex relation with a not so complex solution. ( 25678862 )
2014
14
Seizure disorder secondary to remote gunshot wound of the head: a case of sudden unexpected death in epilepsy. ( 24771478 )
2014
15
Psychosis and seizure disorder: challenges in diagnosis and treatment. ( 25234075 )
2014
16
Childhood insulinoma masquerading as seizure disorder. ( 24698060 )
2014
17
Seizure Disorder in a Patient with a 5.09 Mb 7q11.23-q21.11 Microdeletion Including the MAGI2 Gene. ( 26030165 )
2014
18
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder. ( 24738919 )
2014
19
Absent posterior alpha rhythm: An indirect indicator of seizure disorder? ( 24574560 )
2014
20
Clinico-Electroencephalography Pattern and Determinant of 2-year Seizure Control in Patients with Complex Partial Seizure Disorder in Kano, Northwestern Nigeria. ( 24761235 )
2014
21
Seizure disorder. ( 23923286 )
2013
22
Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice. ( 23090952 )
2013
23
Interictal EEG changes in patients with seizure disorder: experience in Bangladesh. ( 23482637 )
2013
24
A 44-year-old patient with a new-onset seizure disorder after vaccination against Japanese encephalitis: a case report. ( 23497732 )
2013
25
Assessing Systems of Care for US Children with Epilepsy/Seizure Disorder. ( 24228175 )
2013
26
Maternal seizure disorder and risk of adverse pregnancy outcomes. ( 23380264 )
2013
27
Teachers' knowledge and attitudes towards seizure disorder: a comparative study of urban and rural school teachers in Akwa Ibom State, Nigeria. ( 23771463 )
2013
28
Seizure disorder among chronic kidney disease patients in Enugu, South East Nigeria. ( 24283099 )
2013
29
Alterations of endocannabinoids in cerebrospinal fluid of dogs with epileptic seizure disorder. ( 24370333 )
2013
30
Anterior shoulder instability associated with coracoid nonunion in patients with a seizure disorder. ( 22488624 )
2012
31
Insulinoma presenting as refractory seizure disorder. ( 24358830 )
2012
32
Risk and causes of death in children with a seizure disorder. ( 22571767 )
2012
33
Chromosomal loss of 3q26.3-3q26.32, involving a partial neuroligin 1 deletion, identified by genomic microarray in a child with microcephaly, seizure disorder, and severe intellectual disability. ( 22106001 )
2012
34
Risk and causes of death in children with a seizure disorder. ( 22500675 )
2012
35
A national profile of childhood epilepsy and seizure disorder. ( 22271699 )
2012
36
Afebrile seizures associated with respiratory syncytial virus infection: a situation-related seizure disorder in early infancy. ( 21342339 )
2011
37
First-onset psychotic disorder concurrent with a first-onset seizure disorder. ( 22231334 )
2011
38
Dextromethorphan abuse masquerading as a recurrent seizure disorder. ( 21378523 )
2011
39
Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder. ( 21775168 )
2011
40
Etiology of a genetically complex seizure disorder in Celf4 mutant mice. ( 21745337 )
2011
41
Successful Gamma Knife-based stereotactic radiosurgery treatment for medically intractable heterotopia-based seizure disorder. ( 21803485 )
2011
42
Clobazam approved for seizure disorder. ( 22095800 )
2011
43
20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder. ( 21204230 )
2011
44
The impact of left temporal lobe seizure disorder on learning disorders: a case study. ( 20544559 )
2010
45
Vagal nerve stimulator use during pregnancy for treatment of refractory seizure disorder. ( 20093864 )
2010
46
Successful treatment of a seizure disorder with chronic high-dose chloral hydrate: a pediatric case report. ( 21268525 )
2010
47
A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder. ( 19428276 )
2010
48
The effect of seizure disorder on symptom presentation in atypically developing children and children with autism spectrum disorders based on the BDI-2. ( 20828327 )
2010
49
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. ( 20138553 )
2010
50
Perioperative seizures in patients with a history of a seizure disorder. ( 20547823 )
2010

Variations for Seizure Disorder

ClinVar genetic disease variations for Seizure Disorder:

6 (show top 50) (show all 65)
id Gene Variation Type Significance SNP ID Assembly Location
1 TSHR NM_000369.2(TSHR): c.122G> C (p.Cys41Ser) single nucleotide variant Pathogenic rs121908869 GRCh37 Chromosome 14, 81422146: 81422146
2 CUL4B NM_003588.3(CUL4B): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121434616 GRCh37 Chromosome X, 119678034: 119678034
3 MTR NM_000254.2(MTR): c.3518C> T (p.Pro1173Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913578 GRCh37 Chromosome 1, 237058770: 237058770
4 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh37 Chromosome 5, 125919689: 125919689
5 ATP1A3 NM_152296.4(ATP1A3): c.2839G> A (p.Gly947Arg) single nucleotide variant Pathogenic rs398122887 GRCh37 Chromosome 19, 42471896: 42471896
6 WDR45 NM_007075.3(WDR45): c.700C> T (p.Arg234Ter) single nucleotide variant Pathogenic rs387907329 GRCh37 Chromosome X, 48933232: 48933232
7 C12orf57 NM_138425.3(C12orf57): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs587776954 GRCh37 Chromosome 12, 7053285: 7053285
8 TSC1 NM_000368.4(TSC1): c.2356C> T (p.Arg786Ter) single nucleotide variant Pathogenic rs118203682 GRCh37 Chromosome 9, 135778027: 135778027
9 TSC1 NM_000368.3(TSC1): c.2509_2512delAACA (p.Asn837Valfs) deletion Pathogenic rs118203707 GRCh37 Chromosome 9, 135776215: 135776218
10 PRRT2 NM_145239.2(PRRT2): c.649dupC (p.Arg217Profs) duplication Pathogenic rs587778771 GRCh37 Chromosome 16, 29825024: 29825024
11 PURA NM_005859.4(PURA): c.812_814delTCT (p.Phe271del) deletion Pathogenic rs587782991 GRCh38 Chromosome 5, 140114993: 140114995
12 PURA NM_005859.4(PURA): c.556C> T (p.Gln186Ter) single nucleotide variant Pathogenic rs587782993 GRCh38 Chromosome 5, 140114737: 140114737
13 PURA NM_005859.4(PURA): c.289A> G (p.Lys97Glu) single nucleotide variant Pathogenic rs587782994 GRCh38 Chromosome 5, 140114470: 140114470
14 PURA NM_005859.4(PURA): c.299T> C (p.Leu100Pro) single nucleotide variant Pathogenic rs587782995 GRCh37 Chromosome 5, 139494065: 139494065
15 PURA NM_005859.4(PURA): c.363C> G (p.Tyr121Ter) single nucleotide variant Pathogenic rs587782996 GRCh38 Chromosome 5, 140114544: 140114544
16 PURA NM_005859.4(PURA): c.783C> G (p.Tyr261Ter) single nucleotide variant Pathogenic rs587782997 GRCh37 Chromosome 5, 139494549: 139494549
17 PURA NM_005859.4(PURA): c.265G> C (p.Ala89Pro) single nucleotide variant Pathogenic rs587782999 GRCh37 Chromosome 5, 139494031: 139494031
18 PURA NM_005859.4(PURA): c.263_265delTCG (p.Ile88_Ala89delinsThr) deletion Pathogenic rs587783000 GRCh38 Chromosome 5, 140114444: 140114446
19 PURA NM_005859.4(PURA): c.596G> C (p.Arg199Pro) single nucleotide variant Pathogenic rs587783001 GRCh38 Chromosome 5, 140114777: 140114777
20 ATP1A3 NM_152296.4(ATP1A3): c.410C> T (p.Ser137Phe) single nucleotide variant Pathogenic rs542652468 GRCh38 Chromosome 19, 41986177: 41986177
21 subset of 12 genes:DYRK1A NC_000021.8: g.(?_38007970)_(39747620_?)del deletion Pathogenic GRCh37 Chromosome 21, 38007970: 39747620
22 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh38 Chromosome 21, 37490273: 37490273
23 DYRK1A NM_001396.4(DYRK1A): c.844dupA (p.Ser282Lysfs) duplication Pathogenic rs724159954 GRCh38 Chromosome 21, 37490354: 37490354
24 DYRK1A NM_001396.4(DYRK1A): c.945dupG (p.Gln316Alafs) duplication Pathogenic rs724159952 GRCh38 Chromosome 21, 37490455: 37490455
25 DYRK1A NM_001396.4(DYRK1A): c.1232dupG (p.Arg413Thrfs) duplication Pathogenic rs724159956 GRCh38 Chromosome 21, 37496251: 37496251
26 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh38 Chromosome 21, 37505352: 37505352
27 TSEN15 NM_001127394.3(TSEN15): c.226T> G (p.Trp76Gly) single nucleotide variant Pathogenic/Likely pathogenic rs730882223 GRCh38 Chromosome 1, 184054736: 184054736
28 TBCK NM_033115.4(TBCK): c.1708+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs374319146 GRCh38 Chromosome 4, 106194717: 106194717
29 DIAPH1 NM_001079812.2(DIAPH1): c.2305C> T (p.Gln769Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882242 GRCh38 Chromosome 5, 141573518: 141573518
30 ARFGEF2 NM_006420.2(ARFGEF2): c.656dupC (p.Val220Cysfs) duplication Pathogenic/Likely pathogenic rs730882200 GRCh38 Chromosome 20, 48953608: 48953608
31 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh37 Chromosome 20, 62073782: 62073782
32 SLC2A1 NM_006516.2(SLC2A1): c.988C> T (p.Arg330Ter) single nucleotide variant Pathogenic/Likely pathogenic rs80359826 GRCh37 Chromosome 1, 43394689: 43394689
33 SCN2A NM_021007.2(SCN2A): c.2960G> T (p.Ser987Ile) single nucleotide variant Pathogenic/Likely pathogenic rs796053124 GRCh37 Chromosome 2, 166210742: 166210742
34 TANGO2 NM_152906.6(TANGO2): c.460G> A (p.Gly154Arg) single nucleotide variant Pathogenic rs752298579 GRCh37 Chromosome 22, 20049061: 20049061
35 TANGO2 NM_152906.6(TANGO2): c.605+1G> A single nucleotide variant Pathogenic rs372949028 GRCh37 Chromosome 22, 20049207: 20049207
36 SCN2A NM_021007.2(SCN2A): c.2567G> A (p.Arg856Gln) single nucleotide variant Pathogenic/Likely pathogenic rs797045942 GRCh38 Chromosome 2, 165344559: 165344559
37 KCNQ2 NM_172107.3(KCNQ2): c.913_915delTTC (p.Phe305del) deletion Pathogenic rs118192212 GRCh38 Chromosome 20, 63439610: 63439612
38 FRRS1L NM_014334.3(FRRS1L): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs878853280 GRCh37 Chromosome 9, 111899809: 111899809
39 FRRS1L NM_014334.3(FRRS1L): c.845G> A (p.Trp282Ter) single nucleotide variant Pathogenic rs878853281 GRCh38 Chromosome 9, 109141360: 109141360
40 FRRS1L NM_014334.3(FRRS1L): c.737_739delGAG (p.Gly246del) deletion Pathogenic rs878853282 GRCh38 Chromosome 9, 109141466: 109141468
41 FRRS1L NM_014334.3(FRRS1L): c.436dupA (p.Ile146Asnfs) duplication Pathogenic rs878853283 GRCh38 Chromosome 9, 109149676: 109149676
42 NALCN NM_052867.3(NALCN): c.3390G> A (p.Pro1130=) single nucleotide variant Pathogenic rs869312873 GRCh37 Chromosome 13, 101742197: 101742197
43 ACR; ARSA; MAPK8IP2; RABL2B; SHANK3 NC_000022.10: g.(?_51027581)_(51234443_?)del deletion Pathogenic GRCh37 Chromosome 22, 51027581: 51234443
44 subset of 36 genes:SHANK3 NC_000022.10: g.(?_49033233)_(51193680_?)del deletion Pathogenic GRCh37 Chromosome 22, 49033233: 51193680
45 PNPO NM_018129.3(PNPO): c.674G> A (p.Arg225His) single nucleotide variant Pathogenic rs550423482 GRCh38 Chromosome 17, 47946670: 47946670
46 GNB1 NM_002074.4(GNB1): c.976G> A (p.Ala326Thr) single nucleotide variant Pathogenic rs869312826 GRCh37 Chromosome 1, 1718817: 1718817
47 GNB1 NM_002074.4(GNB1): c.301A> G (p.Met101Val) single nucleotide variant Pathogenic/Likely pathogenic rs869312825 GRCh37 Chromosome 1, 1735987: 1735987
48 GNB1 NM_002074.4(GNB1): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs869312824 GRCh37 Chromosome 1, 1736004: 1736004
49 GNB1 NM_002074.4(GNB1): c.239T> A (p.Ile80Asn) single nucleotide variant Pathogenic rs752746786 GRCh37 Chromosome 1, 1737942: 1737942
50 GNB1 NM_002074.4(GNB1): c.233A> G (p.Lys78Arg) single nucleotide variant Pathogenic rs869312823 GRCh38 Chromosome 1, 1806509: 1806509

Copy number variations for Seizure Disorder from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 300885 14 66102556 66605185 Microdeletions GPHN Seizures

Expression for Seizure Disorder

Search GEO for disease gene expression data for Seizure Disorder.

Pathways for Seizure Disorder

Pathways related to Seizure Disorder according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.84 KCNQ2 SCN1A SCN2A
2
Show member pathways
11.23 KCNQ2 SCN1A SCN2A
3 10.28 KCNQ2 SCN1A SCN2A

GO Terms for Seizure Disorder

Cellular components related to Seizure Disorder according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 intercalated disc GO:0014704 9.37 SCN1A SCN2A
2 T-tubule GO:0030315 9.32 SCN1A SCN2A
3 voltage-gated sodium channel complex GO:0001518 9.26 SCN1A SCN2A
4 axon initial segment GO:0043194 9.16 KCNQ2 SCN1A
5 sodium channel complex GO:0034706 8.96 SCN1A SCN2A
6 node of Ranvier GO:0033268 8.8 KCNQ2 SCN1A SCN2A

Biological processes related to Seizure Disorder according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.54 KCNQ2 SCN1A SCN2A
2 regulation of postsynaptic membrane potential GO:0060078 9.32 SCN1A SCN2A
3 neuronal action potential GO:0019228 9.26 SCN1A SCN2A
4 membrane depolarization during action potential GO:0086010 9.16 SCN1A SCN2A
5 regulation of ion transmembrane transport GO:0034765 9.13 KCNQ2 SCN1A SCN2A
6 neuromuscular process controlling posture GO:0050884 8.62 PRRT2 SCN1A

Molecular functions related to Seizure Disorder according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sodium channel activity GO:0005272 9.16 SCN1A SCN2A
2 voltage-gated sodium channel activity GO:0005248 8.96 SCN1A SCN2A
3 voltage-gated ion channel activity GO:0005244 8.8 KCNQ2 SCN1A SCN2A

Sources for Seizure Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
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44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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