MCID: SZR006
MIFTS: 54

Seizure Disorder

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Seizure Disorder

MalaCards integrated aliases for Seizure Disorder:

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

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 seizures, is related to febrile seizures and scn1a-related seizure disorders, and has symptoms including back pain, headache and pain. An important gene associated with Seizure Disorder is KCNQ2 (Potassium Voltage-Gated Channel Subfamily Q Member 2). The drugs Lamotrigine and Valproic Acid have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and temporal lobe, and related phenotypes are behavior/neurological and mortality/aging

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 : 72 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, 5
Seizures, Benign Familial Infantile, 2 Seizures, Benign Familial Infantile, 1
Scn1a-Related Seizure Disorders

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

(show top 50) (show all 115)
id Related Disease Score Top Affiliating Genes
1 febrile seizures 12.1
2 scn1a-related seizure disorders 12.1
3 malignant migrating partial seizures of infancy 12.1
4 benign neonatal seizures 12.0
5 multiple congenital anomalies-hypotonia-seizures syndrome 1 12.0
6 multiple congenital anomalies-hypotonia-seizures syndrome 3 12.0
7 kifafa seizure disorder 11.8
8 myopathy-growth delay-intellectual disability-hypospadias syndrome 10.8 PRRT2 SCN1A
9 early myoclonic encephalopathy 10.7
10 erythermalgia, primary 10.7 KCNQ2 PNPO SCN1A
11 adolescence-adult electroclinical syndrome 10.7 KCNQ2 PRRT2 SCN1A
12 juvenile absence epilepsy 10.7 KCNQ2 PNPO PRRT2
13 glut1 deficiency syndrome 2, childhood onset 10.7 PRRT2 SLC2A1
14 myoglobinuria dominant form 10.7 SCN1A SLC2A1
15 epileptic encephalopathy, early infantile, 15 10.7 KCNQ2 PNPO SCN1A
16 wolf-hirschhorn syndrome 10.7
17 chronic ethmoiditis 10.7 GNB1 MPP4 NALCN
18 autosomal dominant nonsyndromic deafness 10.6 KCNQ2 SCN1A SLC2A1
19 postherpetic neuralgia 10.6 PRRT2 SLC2A1
20 epileptic encephalopathy, early infantile, 11 10.5
21 epileptic encephalopathy, early infantile, 7 10.5
22 benign childhood occipital epilepsy, panayiotopoulos type 10.5
23 sjogren's syndrome 10.5 FRRS1L PRRT2
24 paget's disease of bone 10.4 GNB1 MPP4 NALCN
25 hemolytic uremic syndrome, atypical, childhood 10.4 GNB1 PRRT2 SCN1A SLC2A1
26 peyronie's disease 10.3 KCNQ2 SCN1A WDR45
27 fatal infantile encephalocardiomyopathy 10.3 PRRT2 SLC2A1
28 epilepsy, generalized, with febrile seizures plus, type 2 10.3
29 epileptic encephalopathy, early infantile, 6 10.3
30 febrile seizures, familial, 3b 10.3
31 aicardi-goutieres syndrome 1, dominant and recessive 10.3
32 epilepsy, generalized, with febrile seizures plus, type 3 10.3
33 febrile seizures, familial, 11 10.3
34 leukodystrophy, hypomyelinating, 12 10.3
35 epilepsy, focal, with speech disorder and with or without mental retardation 10.3
36 pyridoxamine 5'-phosphate oxidase deficiency 10.3
37 seizures, benign familial infantile, 1 10.3
38 epilepsy, generalized, with febrile seizures plus, type 1 10.3
39 epileptic encephalopathy, early infantile, 52 10.3
40 aicardi syndrome 10.3
41 mental retardation, x-linked 12/35 10.3
42 west syndrome 10.3
43 cerebral palsy 10.3
44 genetic epilepsy with febrile seizures plus 10.3
45 spondylosis 10.3 SCN1A SLC2A1 TSC1
46 gingival disease 10.2 KCNQ2 PRRT2
47 paroxysmal nonkinesigenic dyskinesia 1 10.1 DYRK1A GNB1 MPP4 OTUD6B SLC2A1
48 epilepsy 9.9
49 iris hypoplasia 9.9 DYRK1A GNB1 MPP4 NALCN OTUD6B SLC2A1
50 insulinoma 9.8

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 9.97 NALCN PRRT2 SCN1A SLC2A1 SYN3 DYRK1A
2 mortality/aging MP:0010768 9.73 MYO5A NALCN OTUD6B SCN1A SLC2A1 DYRK1A
3 nervous system MP:0003631 9.44 MYO5A NALCN PRRT2 SCN1A SLC2A1 SYN3

Drugs & Therapeutics for Seizure Disorder

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

(show top 50) (show all 550)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamotrigine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 84057-84-1 3878
2
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 99-66-1 3121
3
Topiramate Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 97240-79-4 5284627
4
Acetazolamide Approved, Vet_approved Phase 4,Phase 2,Phase 3 59-66-5 1986
5
Carbamazepine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 298-46-4 2554
6
Clobazam Approved, Illicit Phase 4,Phase 3,Phase 2 22316-47-8 2789
7
Clonazepam Approved, Illicit Phase 4,Phase 3,Phase 2 1622-61-3 2802
8
Ethosuximide Approved Phase 4,Phase 3 77-67-8 3291
9
Felbamate Approved Phase 4 25451-15-4 3331
10
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60142-96-3 3446
11
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3 83-43-2 6741
12
Nitrazepam Approved Phase 4,Phase 2 146-22-5 4506
13
Oxcarbazepine Approved Phase 4,Phase 3,Phase 2,Phase 1 28721-07-5 34312
14
Phenobarbital Approved Phase 4,Phase 3,Phase 2,Phase 1 50-06-6 4763
15
Phenytoin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 57-41-0 1775
16
Prednisolone Approved, Vet_approved Phase 4,Phase 3 50-24-8 5755
17
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1 148553-50-8 5486971
18
Tiagabine Approved Phase 4,Phase 1 115103-54-3 60648
19
Vigabatrin Approved Phase 4,Phase 3,Phase 1,Phase 2 68506-86-5, 60643-86-9 5665
20
Zonisamide Approved, Investigational Phase 4,Phase 3 68291-97-4 5734
21 Piracetam Approved Phase 4,Phase 3,Phase 2,Phase 1 7491-74-9
22
Milnacipran Approved Phase 4 92623-85-3 65833
23
Ketamine Approved, Vet_approved Phase 4,Phase 3,Phase 2 6740-88-1 3821
24
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
25
Lacosamide Approved Phase 4,Phase 3,Phase 2,Phase 1 860352-01-8, 175481-36-4 219078
26
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-61-6, 62-31-7 681
27
Methylphenidate Approved, Investigational Phase 4,Phase 2 113-45-1 4158
28
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 57-27-2 5288826
29
Benzocaine Approved Phase 4,Phase 2,Phase 3 1994-09-7, 94-09-7 2337
30
Eslicarbazepine acetate Approved Phase 4,Phase 3,Phase 2,Phase 1 75970-99-9, 236395-14-5 123618
31
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 2078-54-8 4943
32
Ethanol Approved Phase 4,Phase 3,Phase 2,Phase 1 64-17-5 702
33
Acetylcholine Approved Phase 4,Phase 2 51-84-3 187
34
Lorazepam Approved Phase 4,Phase 3,Phase 2,Phase 1 846-49-1 3958
35
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1 59467-70-8 4192
36
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 159351-69-6 6442177
37
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 22916-47-8 4189
38
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 53123-88-9 5284616 6436030 46835353
39
Amitriptyline Approved Phase 4,Phase 3 50-48-6 2160
40
Levonorgestrel Approved, Investigational Phase 4,Phase 1 797-63-7, 17489-40-6 13109
41
Citalopram Approved Phase 4 59729-33-8 2771
42
Clevidipine Approved Phase 4 167221-71-8
43
Hydralazine Approved Phase 4 86-54-4 3637
44
Labetalol Approved Phase 4 36894-69-6 3869
45
Sertraline Approved Phase 4,Phase 3 79617-96-2 68617
46
Fosphenytoin Approved Phase 4,Phase 3,Phase 2,Phase 1 93390-81-9 56339
47
Acetaminophen Approved Phase 4 103-90-2 1983
48
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
49
Ibuprofen Approved Phase 4 15687-27-1 3672
50
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 1 76631-46-4, 113775-47-6 68602 5311068 56032

Interventional clinical trials:

(show top 50) (show all 1560)

id Name Status NCT ID Phase Drugs
1 The Impact of Reducing Overtreatment on Quality of Life in Children With Refractory Epilepsy Unknown status NCT00647322 Phase 4
2 Correlation Between SV2A Expression in Tumour Tissue and Efficacy of Levetiracetam in Glioma Patients With Epilepsy Unknown status NCT00454935 Phase 4
3 Hormone Profiles in Adults With Newly Diagnosed Epilepsy Unknown status NCT00137709 Phase 4 Sodium valproate;Lamotrigine
4 Topiramate Treatment for Patients With Epilepsy and Learning Disability : A Prospective Observational Study Unknown status NCT00956696 Phase 4 topiramate
5 Ketogenic Diet vs.Antiepileptic Drug Treatment in Drug Resistant Epilepsy Unknown status NCT00552526 Phase 4 Antiepileptic drug (AED)
6 Study to Improve the Treatment of Epilepsy (SITE) Unknown status NCT00133081 Phase 4 All registered antiepileptic drugs
7 BEEP Follow Up: Evaluation of Repeatability of Lamotrigine Pharmacokinetics in Epileptic Patients Unknown status NCT02404168 Phase 4 lamotrigine (brand Lamictal);lamotrigine (generic Teva)
8 Compare Tolerability of an Overnight Switch to Gradual Switch Between Two Different Forms of Depakote Unknown status NCT00312676 Phase 4
9 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 Contrast agent
10 A Trial of Generic Substitution of Antiepileptic Drugs Unknown status NCT02429596 Phase 4 Experimental
11 Levetiracetam Treatment of Children With Subclinical Sleep-Activated Epileptiform Activity (SSEA) Unknown status NCT00393614 Phase 4 levetiracetam
12 Melatonin Versus Placebo in the Lennox-Gastaut Syndrome: Neurophysiological and Neuropsychological Effects Unknown status NCT01370486 Phase 4 melatonin;placebo
13 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
14 The Benefit of Prophylactic Anticonvulsant in Post Cardiac Arrest Syndrome With Induced Mild Hypothermia Unknown status NCT01083784 Phase 4 Use of prophylactic anticonvulsants (valproate, clonazepam);Control group
15 Clinical Study of Xingnaojing for the Treatment of Convulsive Diseases Unknown status NCT00796380 Phase 4 Xingnaojing
16 Preventive Treatment of Episodic and Chronic Migraine Unknown status NCT01319825 Phase 4 milnacipran
17 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 Phenytoin;placebo
18 Seizure Prophylaxis With Levetiracetam in Aneurysmal Subarachnoid Hemorrhage - Pilot Study Unknown status NCT01935908 Phase 4 levetiracetam
19 Effect of the Addition of Ketamine to Sevoflurane Anesthesia in Electroconvulsive Therapy Unknown status NCT02267980 Phase 4 Sevoflurane;Ketamine;Saline
20 Study on Migraine and Headache in Epileptic Patients Completed NCT00642564 Phase 4
21 Lamotrigine Cognitive Function Study in Adult Untreated Epilepsies Completed NCT00896987 Phase 4 lamotrigine (Lamictal);Carbamazepine (Tegretol)
22 Equivalence Among Antiepileptic Drug Generic and Brand Products in People With Epilepsy: Single-Dose 6-Period Replicate Design (EQUIGEN Single-Dose Study) Completed NCT01733394 Phase 4 Lamotrigine Generic "A" Lamotrigine Generic "B" Lamotrigine "Brand";lamotrigine
23 Equivalence Among Antiepileptic Drug Generic and Brand Products in People With Epilepsy: Chronic-Dose 4-Period Replicate Design Completed NCT01713777 Phase 4 Lamotrigine Generic "A";Lamotrigine generic "B"
24 Standardized Educational Plan for Epilepsy Patients With Comorbidities Completed NCT01804322 Phase 4
25 RCT of the Efficacy of the Ketogenic Diet in the Treatment of Epilepsy Completed NCT00564915 Phase 4
26 Cognitive and Behavioral Effects of Lacosamide Completed NCT01175954 Phase 4 Lacosamide;Lacosamide
27 An Observational Study to Evaluate Long-term Retention Rate of Topiramate in Participants With Epilepsy Completed NCT01682681 Phase 4 Topiramate
28 Valproate Dose Reduction and Its Clinical Evaluation by Introducing Lamotrigine in Japanese Women With Epilepsy - Single Arm, Multicenter, and Open-label Study - Completed NCT02100644 Phase 4 Lamotrigine tablets 25/100 mg
29 Heart Rate Changes During Normal Activity, Exercise, and Seizures in Subjects With Epilepsy Completed NCT01214707 Phase 4
30 Levetiracetam for Benign Rolandic Epilepsy Completed NCT00181116 Phase 4 Levetiracetam
31 Methylphenidate Treatment of Attention Deficits in Epilepsy Completed NCT02178995 Phase 4 Methylphenidate
32 Measurement Of Serum Levels Of Two Antiepileptic Drugs During Conversion In Patients With Epilepsy Completed NCT00043914 Phase 4 lamotrigine
33 Safety and Efficacy of Topamax Versus Carbamazepine in Benign Rolandic Epilepsy Completed NCT00216567 Phase 4 topamax
34 Compliance With Once-Daily Divalproex Extended-Release Tablets (Depakote-ER) Versus Multiple-Daily Dose Valproic Acid Capsules (Depakene) in Epilepsy: Completed NCT00356018 Phase 4
35 Determine Effects of Adjunctive Levetiracetam on Sleep Architecture in Adults With Partial Onset Epilepsy. Completed NCT00245713 Phase 4 levetiracetam
36 Randomized Controlled Trial to Assess Effects of Lacosamide on Sleep and Wake in Adults With Focal Epilepsy Completed NCT01190098 Phase 4 Lacosamide;Placebo
37 Open-label, Multi-center Trial of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy Completed NCT01140867 Phase 4 zonisamide
38 Spanish Validation Of Quality of Life Questionnaire (QOLIE-10) For Epilepsy Completed NCT00264680 Phase 4 lamotrigine;valproic acid
39 A Study to Assess Tolerability and Efficacy of Topiramate Monotherapy in Recently Diagnosed Patients With Epilepsy Completed NCT01689649 Phase 4 Topiramate
40 Women With Epilepsy: a Pilot Study of PK and PD Anti-epileptic Drug Effects in Levonorgestrel Intrauterine System Users Completed NCT02362373 Phase 4 levonorgestrel IUS
41 Quality of Life and Adverse Effects in Epilepsy Patients (EPIKA) Completed NCT00302991 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 Lacosamide
43 Open Label Study of Zonisamide in the Treatment of Epilepsy in Patients With Mental Retardation Completed NCT00298818 Phase 4
44 Non-Interventional Study With LYRICA (Pregabalin) In Patients With Epilepsy As Adjunctive Therapy Of Partial Seizures To Reduce Seizure Frequency Completed NCT00684424 Phase 4
45 A Cross-sectional Study to Investigate the Effect of Topiramate on Bone and Mineral Metabolism in Female Participants With Epilepsy Completed NCT01030094 Phase 4 Topiramate;Carbamazepine;Valproic acid;Normal control
46 Study of Valproate in Young Patients Suffering From Epilepsy Completed NCT00385411 Phase 4 valproate microgranules
47 S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy Completed NCT00630968 Phase 4 Levetiracetam (Keppra)
48 Effect of Three Different Doses of Oral Cholecalciferol on 25-Hydroxyvitamin D Changes Among Epilepsy Patients With Hypovitaminosis D Completed NCT02890823 Phase 4 Cholecalciferol
49 Levetiracetam Versus Oxcarbazepine as Monotherapy to Evaluate Efficacy and Safety in Subjects With Newly or Recently Diagnosed Partial Epilepsy Completed NCT01498822 Phase 4 Levetiracetam;Oxcarbazepine
50 Open Label Safety and Efficacy Study of Levetiracetam in Patients With Epilepsy Completed NCT00160654 Phase 4 Levetiracetam

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, Testes, Temporal Lobe, Bone, Heart, Skin, Thalamus

Publications for Seizure Disorder

Articles related to Seizure Disorder:

(show top 50) (show all 212)
id Title Authors Year
1
Asynchronous slipped capital femoral epiphysis in a patient with a seizure disorder: case report and review of the literature. ( 28657919 )
2017
2
Elevated Urinary Glyphosate and Clostridia Metabolites With Altered Dopamine Metabolism in Triplets With Autistic Spectrum Disorder or Suspected Seizure Disorder: A Case Study. ( 28223908 )
2017
3
Application and Evaluation of Independent Component Analysis Methods to Generalized Seizure Disorder Activities Exhibited in the Brain. ( 27837050 )
2017
4
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. ( 26740507 )
2016
5
Partners in Crime: Kidney Transplantation and Seizure Disorder. ( 27788804 )
2016
6
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. ( 27541164 )
2016
7
A method for deciding about the possible safety of modafinil and armodafinil in patients with seizure disorder. ( 26845275 )
2016
8
Epilepsy or seizure disorder? The effect of cultural and socioeconomic factors on self-reported prevalence. ( 27494358 )
2016
9
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
10
Basal transethmoidal encephalocele and malignant hypertension in a parturient with a seizure disorder. A case report. ( 25745752 )
2015
11
Vegetating plaques in a patient with a seizure disorder. ( 26018379 )
2015
12
The impact of co-morbid seizure disorder on neuropsychological functioning in children and adolescents with FASD. ( 26531612 )
2015
13
Fish consumption in individuals with Down syndrome with seizure disorder: News for prescription. ( 25625531 )
2015
14
A Case Report of Klinefelter Syndrome with Schizophrenia-Like Psychosis and Seizure Disorder. ( 26664093 )
2015
15
Development of mania with carbamazepine for treatment of seizure disorder in a 7-year-old boy. ( 25650677 )
2015
16
Treatment-resistant mania in Dandy-Walker malformation with seizure disorder: A case report. ( 26962361 )
2015
17
Lennox-lombroso lecture, 2013: psychiatric comorbidities through the life of the seizure disorder: a complex relation with a not so complex solution. ( 25678862 )
2014
18
Clinico-Electroencephalography Pattern and Determinant of 2-year Seizure Control in Patients with Complex Partial Seizure Disorder in Kano, Northwestern Nigeria. ( 24761235 )
2014
19
Seizure disorder secondary to remote gunshot wound of the head: a case of sudden unexpected death in epilepsy. ( 24771478 )
2014
20
Childhood insulinoma masquerading as seizure disorder. ( 24698060 )
2014
21
Psychosis and seizure disorder: challenges in diagnosis and treatment. ( 25234075 )
2014
22
Seizure Disorder in a Patient with a 5.09 Mb 7q11.23-q21.11 Microdeletion Including the MAGI2 Gene. ( 26030165 )
2014
23
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder. ( 24738919 )
2014
24
Absent posterior alpha rhythm: An indirect indicator of seizure disorder? ( 24574560 )
2014
25
Seizure disorder among chronic kidney disease patients in Enugu, South East Nigeria. ( 24283099 )
2013
26
Alterations of endocannabinoids in cerebrospinal fluid of dogs with epileptic seizure disorder. ( 24370333 )
2013
27
A 44-year-old patient with a new-onset seizure disorder after vaccination against Japanese encephalitis: a case report. ( 23497732 )
2013
28
Seizure disorder. ( 23923286 )
2013
29
Teachers' knowledge and attitudes towards seizure disorder: a comparative study of urban and rural school teachers in Akwa Ibom State, Nigeria. ( 23771463 )
2013
30
Interictal EEG changes in patients with seizure disorder: experience in Bangladesh. ( 23482637 )
2013
31
Maternal seizure disorder and risk of adverse pregnancy outcomes. ( 23380264 )
2013
32
Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice. ( 23090952 )
2013
33
Assessing Systems of Care for US Children with Epilepsy/Seizure Disorder. ( 24228175 )
2013
34
Anterior shoulder instability associated with coracoid nonunion in patients with a seizure disorder. ( 22488624 )
2012
35
Risk and causes of death in children with a seizure disorder. ( 22571767 )
2012
36
Insulinoma presenting as refractory seizure disorder. ( 24358830 )
2012
37
Risk and causes of death in children with a seizure disorder. ( 22500675 )
2012
38
A national profile of childhood epilepsy and seizure disorder. ( 22271699 )
2012
39
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
40
Dextromethorphan abuse masquerading as a recurrent seizure disorder. ( 21378523 )
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
Afebrile seizures associated with respiratory syncytial virus infection: a situation-related seizure disorder in early infancy. ( 21342339 )
2011
44
Etiology of a genetically complex seizure disorder in Celf4 mutant mice. ( 21745337 )
2011
45
20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder. ( 21204230 )
2011
46
Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder. ( 21775168 )
2011
47
First-onset psychotic disorder concurrent with a first-onset seizure disorder. ( 22231334 )
2011
48
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. ( 20138553 )
2010
49
The impact of left temporal lobe seizure disorder on learning disorders: a case study. ( 20544559 )
2010
50
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

Variations for Seizure Disorder

ClinVar genetic disease variations for Seizure Disorder:

6 (show top 50) (show all 72)
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.844dup (p.Ser282Lysfs) duplication Pathogenic rs724159954 GRCh38 Chromosome 21, 37490354: 37490354
24 DYRK1A NM_001396.4(DYRK1A): c.945dup (p.Gln316Alafs) duplication Pathogenic rs724159952 GRCh38 Chromosome 21, 37490455: 37490455
25 DYRK1A NM_001396.4(DYRK1A): c.1232dup (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 SCN1A NM_001165963.2(SCN1A): c.4554dup (p.Pro1519Thrfs) duplication Pathogenic rs796053082 GRCh38 Chromosome 2, 165996040: 165996040
35 TANGO2 NM_152906.6(TANGO2): c.460G> A (p.Gly154Arg) single nucleotide variant Pathogenic rs752298579 GRCh37 Chromosome 22, 20049061: 20049061
36 TANGO2 NM_152906.6(TANGO2): c.605+1G> A single nucleotide variant Pathogenic rs372949028 GRCh37 Chromosome 22, 20049207: 20049207
37 SCN2A NM_021007.2(SCN2A): c.2567G> A (p.Arg856Gln) single nucleotide variant Pathogenic/Likely pathogenic rs797045942 GRCh38 Chromosome 2, 165344559: 165344559
38 KCNQ2 NM_172107.3(KCNQ2): c.913_915delTTC (p.Phe305del) deletion Pathogenic rs118192212 GRCh38 Chromosome 20, 63439610: 63439612
39 FRRS1L NM_014334.3(FRRS1L): c.961C> T (p.Gln321Ter) single nucleotide variant Pathogenic rs878853280 GRCh37 Chromosome 9, 111899809: 111899809
40 FRRS1L NM_014334.3(FRRS1L): c.845G> A (p.Trp282Ter) single nucleotide variant Pathogenic rs878853281 GRCh38 Chromosome 9, 109141360: 109141360
41 FRRS1L NM_014334.3(FRRS1L): c.737_739delGAG (p.Gly246del) deletion Pathogenic rs878853282 GRCh38 Chromosome 9, 109141466: 109141468
42 FRRS1L NM_014334.3(FRRS1L): c.436dupA (p.Ile146Asnfs) duplication Pathogenic rs878853283 GRCh38 Chromosome 9, 109149676: 109149676
43 NALCN NM_052867.3(NALCN): c.3390G> A (p.Pro1130=) single nucleotide variant Pathogenic rs869312873 GRCh37 Chromosome 13, 101742197: 101742197
44 ACR; ARSA; MAPK8IP2; RABL2B; SHANK3 NC_000022.10: g.(?_51027581)_(51234443_?)del deletion Pathogenic GRCh37 Chromosome 22, 51027581: 51234443
45 subset of 36 genes:SHANK3 NC_000022.10: g.(?_49033233)_(51193680_?)del deletion Pathogenic GRCh37 Chromosome 22, 49033233: 51193680
46 PNPO NM_018129.3(PNPO): c.674G> A (p.Arg225His) single nucleotide variant Pathogenic rs550423482 GRCh38 Chromosome 17, 47946670: 47946670
47 GNB1 NM_002074.4(GNB1): c.976G> A (p.Ala326Thr) single nucleotide variant Pathogenic rs869312826 GRCh37 Chromosome 1, 1718817: 1718817
48 GNB1 NM_002074.4(GNB1): c.301A> G (p.Met101Val) single nucleotide variant Pathogenic/Likely pathogenic rs869312825 GRCh37 Chromosome 1, 1735987: 1735987
49 GNB1 NM_002074.4(GNB1): c.284T> C (p.Leu95Pro) single nucleotide variant Pathogenic rs869312824 GRCh37 Chromosome 1, 1736004: 1736004
50 GNB1 NM_002074.4(GNB1): c.239T> A (p.Ile80Asn) single nucleotide variant Pathogenic rs752746786 GRCh37 Chromosome 1, 1737942: 1737942

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

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 node of Ranvier GO:0033268 8.96 KCNQ2 SCN1A
2 axon initial segment GO:0043194 8.62 KCNQ2 SCN1A

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

id Name GO ID Score Top Affiliating Genes
1 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 voltage-gated ion channel activity GO:0005244 8.8 KCNQ2 NALCN SCN1A

Sources for Seizure Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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65 SNOMED-CT via HPO
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