MCID: SZR006
MIFTS: 55

Seizure Disorder

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Seizure Disorder

MalaCards integrated aliases for Seizure Disorder:

Name: Seizure Disorder 50 3
Seizures 28 40
Seizure Disorders 28
Epilepsy 69
Seizure 28

Classifications:



Summaries for Seizure Disorder

NINDS : 50 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 epileptic encephalopathy, early infantile, 6 and paroxysmal choreoathetosis, and has symptoms including sleeplessness, non-epileptic convulsion and vertigo/dizziness. An important gene associated with Seizure Disorder is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1). The drugs Ethanol and Dopamine 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 : 40 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

CDC : 3 Epilepsy and Disaster Preparedness

Related Diseases for Seizure Disorder

Diseases in the Seizure Disorder family:

Seizures, Benign Familial Infantile, 1 Seizures, Benign Familial Infantile, 2
Seizures, Benign Familial Infantile, 3 Seizures, Benign Familial Infantile, 4
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 124)
# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 6 31.4 KCNQ2 PNPO SCN1A
2 paroxysmal choreoathetosis 29.9 PRRT2 SLC2A1
3 alacrima, achalasia, and mental retardation syndrome 29.5 DYRK1A GNB1 MPP4 OTUD6B SLC2A1
4 scn1a-related seizure disorders 12.2
5 kifafa seizure disorder 12.1
6 early myoclonic encephalopathy 10.8
7 wolf-hirschhorn syndrome 10.8
8 epileptic encephalopathy, early infantile, 7 10.6
9 epileptic encephalopathy, early infantile, 11 10.6
10 benign childhood occipital epilepsy, panayiotopoulos type 10.6
11 familial or sporadic hemiplegic migraine 10.6 PRRT2 SCN1A
12 epileptic encephalopathy, early infantile, 15 10.5 KCNQ2 PNPO SCN1A
13 myoclonic astatic epilepsy 10.5 SCN1A SLC2A1
14 infancy electroclinical syndrome 10.5 KCNQ2 PRRT2 SCN1A
15 benign familial infantile epilepsy 10.5 KCNQ2 PNPO PRRT2
16 glut1 deficiency syndrome 2 10.5 PRRT2 SLC2A1
17 lennox-gastaut syndrome 10.4 KCNQ2 SCN1A SLC2A1
18 mechanical strabismus 10.4 GNB1 MPP4 NALCN
19 epilepsy, focal, with speech disorder and with or without mental retardation 10.4
20 generalized epilepsy with febrile seizures plus, type 3 10.4
21 mental retardation, x-linked 12 10.4
22 genetic epilepsy with febrile seizures plus 10.4
23 aicardi syndrome 10.4
24 generalized epilepsy with febrile seizures plus, type 7 10.4
25 epileptic encephalopathy, early infantile, 1 10.4
26 febrile seizures, familial, 11 10.4
27 nervous system disease 10.4
28 seizures, benign familial infantile, 1 10.4
29 generalized epilepsy with febrile seizures plus, type 1 10.4
30 leukodystrophy, hypomyelinating, 12 10.4
31 generalized epilepsy with febrile seizures plus, type 2 10.4
32 aicardi-goutieres syndrome 1 10.4
33 epileptic encephalopathy, early infantile, 52 10.4
34 pyridoxamine 5-prime-phosphate oxidase deficiency 10.4
35 cerebral palsy 10.4
36 early onset absence epilepsy 10.3 PRRT2 SLC2A1
37 benign familial neonatal epilepsy 10.3 KCNQ2 PRRT2
38 strabismus 10.3 GNB1 MPP4 NALCN
39 seizures, benign familial infantile, 3 10.3 KCNQ2 SCN1A
40 west syndrome 10.3 KCNQ2 SCN1A WDR45
41 hemiplegic migraine 10.3 GNB1 PRRT2 SCN1A SLC2A1
42 epilepsy, idiopathic generalized 10.3 KCNQ2 SCN1A SLC2A1
43 focal epilepsy 10.2 SCN1A SLC2A1 TSC1
44 choreatic disease 10.1 FRRS1L PRRT2
45 epilepsy 10.0
46 insulinoma 9.9
47 panic disorder 9.7
48 aphasia 9.7
49 glioma 9.7
50 weber syndrome 9.7

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:


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

MGI Mouse Phenotypes related to Seizure Disorder:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.97 GNB1 KCNQ2 MYO5A NALCN PRRT2 SCN1A
2 mortality/aging MP:0010768 9.73 NALCN OTUD6B SCN1A SLC2A1 TSC1 TSHR
3 nervous system MP:0003631 9.44 DYRK1A GNB1 KCNQ2 MPP4 MYO5A NALCN

Drugs & Therapeutics for Seizure Disorder

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

(show top 50) (show all 551)
# 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
Vigabatrin Approved Phase 4,Phase 3,Phase 2 68506-86-5, 60643-86-9 5665
4
Tiagabine Approved, Investigational Phase 4,Phase 1 115103-54-3 60648
5
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 60142-96-3 3446
6
Lamotrigine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 84057-84-1 3878
7
Phenytoin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 57-41-0 1775
8
Carbamazepine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 298-46-4 2554
9
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1 59467-70-8 4192
10
Phenobarbital Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 50-06-6 4763
11
Morphine Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 57-27-2 5288826
12
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 99-66-1 3121
13
Acetylcholine Approved Phase 4,Phase 2 51-84-3 187
14 Piracetam Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 7491-74-9
15
Topiramate Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 97240-79-4 5284627
16
Prednisolone Approved, Vet_approved Phase 4,Phase 3 50-24-8 5755
17
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 22916-47-8 4189
18
Zonisamide Approved, Investigational Phase 4,Phase 3 68291-97-4 5734
19
Acetazolamide Approved, Vet_approved Phase 4,Phase 2,Phase 3 59-66-5 1986
20
Amitriptyline Approved Phase 4,Phase 3 50-48-6 2160
21
Tranexamic Acid Approved Phase 4,Phase 3 1197-18-8 5526
22
Everolimus Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 159351-69-6 6442177
23
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 2078-54-8 4943
24
Felbamate Approved Phase 4 25451-15-4 3331
25
Lorazepam Approved Phase 4,Phase 3,Phase 2,Phase 1 846-49-1 3958
26
Clonazepam Approved, Illicit Phase 4,Phase 3,Phase 2 1622-61-3 2802
27
Oxcarbazepine Approved Phase 4,Phase 3,Phase 2,Phase 1 28721-07-5 34312
28
Benzocaine Approved, Investigational Phase 4,Phase 2,Phase 3 1994-09-7, 94-09-7 2337
29
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1 148553-50-8 5486971
30
Ethosuximide Approved Phase 4,Phase 3 77-67-8 3291
31
Clobazam Approved, Illicit Phase 4,Phase 3,Phase 2 22316-47-8 2789
32
Nitrazepam Approved Phase 4,Phase 2 146-22-5 4506
33
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3 83-43-2 6741
34
Lacosamide Approved Phase 4,Phase 3,Phase 2,Phase 1 860352-01-8, 175481-36-4 219078
35
Sirolimus Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 53123-88-9 46835353 6436030 5284616
36
gamma-Aminobutyric acid Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 56-12-2 119
37
Eslicarbazepine acetate Approved Phase 4,Phase 3,Phase 2,Phase 1 236395-14-5, 75970-99-9 123618
38
Diclofenac Approved, Vet_approved Phase 4,Phase 3 15307-86-5 3033
39
Acetaminophen Approved Phase 4,Phase 2 103-90-2 1983
40
Ibuprofen Approved Phase 4,Phase 2 15687-27-1 3672
41
Hydralazine Approved Phase 4 86-54-4 3637
42
Memantine Approved, Investigational Phase 4 19982-08-2 4054
43
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
44
Bupropion Approved Phase 4,Phase 3 34911-55-2, 34841-39-9 444
45
Methylphenidate Approved, Investigational Phase 4 20748-11-2, 113-45-1 4158
46
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 1 76631-46-4, 113775-47-6 5311068 56032 68602
47
Fosphenytoin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 93390-81-9 56339
48
Levonorgestrel Approved, Investigational Phase 4,Phase 1 797-63-7, 17489-40-6 13109
49
Citalopram Approved Phase 4 59729-33-8 2771
50
Sertraline Approved Phase 4,Phase 3 79617-96-2 68617

Interventional clinical trials:

(show top 50) (show all 1598)

# 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 Immunotherapy in Intractable Cryptogenic Epilepsy Patients With Autoimmune Antibody Unknown status NCT02695797 Phase 4 Prednisolone
4 Topiramate Treatment for Patients With Epilepsy and Learning Disability : A Prospective Observational Study Unknown status NCT00956696 Phase 4 topiramate
5 Hormone Profiles in Adults With Newly Diagnosed Epilepsy Unknown status NCT00137709 Phase 4 Sodium valproate;Lamotrigine
6 Ketogenic Diet vs.Antiepileptic Drug Treatment in Drug Resistant Epilepsy Unknown status NCT00552526 Phase 4 Antiepileptic drug (AED)
7 Study to Improve the Treatment of Epilepsy (SITE) Unknown status NCT00133081 Phase 4 All registered antiepileptic drugs
8 BEEP Follow Up: Evaluation of Repeatability of Lamotrigine Pharmacokinetics in Epileptic Patients Unknown status NCT02404168 Phase 4 lamotrigine (brand Lamictal);lamotrigine (generic Teva)
9 Compare Tolerability of an Overnight Switch to Gradual Switch Between Two Different Forms of Depakote Unknown status NCT00312676 Phase 4
10 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
11 A Trial of Generic Substitution of Antiepileptic Drugs Unknown status NCT02429596 Phase 4 Experimental
12 Levetiracetam Treatment of Children With Subclinical Sleep-Activated Epileptiform Activity (SSEA) Unknown status NCT00393614 Phase 4 levetiracetam
13 Melatonin Versus Placebo in the Lennox-Gastaut Syndrome: Neurophysiological and Neuropsychological Effects Unknown status NCT01370486 Phase 4 melatonin;placebo
14 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
15 Comparison of Oral 30 % Dextrose and iv Midazolam Sedation During MRI in Neonates Unknown status NCT02645279 Phase 4 IV midazolam
16 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
17 Clinical Study of Xingnaojing for the Treatment of Convulsive Diseases Unknown status NCT00796380 Phase 4 Xingnaojing
18 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
19 Study on Migraine and Headache in Epileptic Patients Completed NCT00642564 Phase 4
20 Lamotrigine Cognitive Function Study in Adult Untreated Epilepsies Completed NCT00896987 Phase 4 lamotrigine (Lamictal);Carbamazepine (Tegretol)
21 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
22 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"
23 Standardized Educational Plan for Epilepsy Patients With Comorbidities Completed NCT01804322 Phase 4
24 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
25 Cognitive and Behavioral Effects of Lacosamide Completed NCT01175954 Phase 4 Lacosamide;Lacosamide
26 Methylphenidate Treatment of Attention Deficits in Epilepsy Completed NCT02178995 Phase 4 Methylphenidate
27 An Observational Study to Evaluate Long-term Retention Rate of Topiramate in Participants With Epilepsy Completed NCT01682681 Phase 4 Topiramate
28 RCT of the Efficacy of the Ketogenic Diet in the Treatment of Epilepsy Completed NCT00564915 Phase 4
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 Safety and Efficacy of Topamax Versus Carbamazepine in Benign Rolandic Epilepsy Completed NCT00216567 Phase 4 topamax
32 Compliance With Once-Daily Divalproex Extended-Release Tablets (Depakote-ER) Versus Multiple-Daily Dose Valproic Acid Capsules (Depakene) in Epilepsy: Completed NCT00356018 Phase 4
33 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
34 Determine Effects of Adjunctive Levetiracetam on Sleep Architecture in Adults With Partial Onset Epilepsy. Completed NCT00245713 Phase 4 levetiracetam
35 Randomized Controlled Trial to Assess Effects of Lacosamide on Sleep and Wake in Adults With Focal Epilepsy Completed NCT01190098 Phase 4 Lacosamide;Placebo
36 Open-label, Multi-center Trial of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy Completed NCT01140867 Phase 4 zonisamide
37 Measurement Of Serum Levels Of Two Antiepileptic Drugs During Conversion In Patients With Epilepsy Completed NCT00043914 Phase 4 lamotrigine
38 A Study to Assess Tolerability and Efficacy of Topiramate Monotherapy in Recently Diagnosed Patients With Epilepsy Completed NCT01689649 Phase 4 Topiramate
39 Trial to Assess Lacosamide as the First add-on Anti-epileptic Drug Treatment in Patients With Partial-onset Seizures Completed NCT00955357 Phase 4 Lacosamide
40 Quality of Life and Adverse Effects in Epilepsy Patients (EPIKA) Completed NCT00302991 Phase 4
41 Open Label Study of Zonisamide in the Treatment of Epilepsy in Patients With Mental Retardation Completed NCT00298818 Phase 4
42 Non-Interventional Study With LYRICA (Pregabalin) In Patients With Epilepsy As Adjunctive Therapy Of Partial Seizures To Reduce Seizure Frequency Completed NCT00684424 Phase 4
43 Effect of Three Different Doses of Oral Cholecalciferol on 25-Hydroxyvitamin D Changes Among Epilepsy Patients With Hypovitaminosis D Completed NCT02890823 Phase 4 Cholecalciferol
44 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
45 Study of Valproate in Young Patients Suffering From Epilepsy Completed NCT00385411 Phase 4 valproate microgranules
46 S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy Completed NCT00630968 Phase 4 Levetiracetam (Keppra)
47 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
48 Lamotrigine Bioequivalence Completed NCT01995825 Phase 4 lamotrigine
49 Open Label Safety and Efficacy Study of Levetiracetam in Patients With Epilepsy Completed NCT00160654 Phase 4 Levetiracetam
50 A Study to Evaluate the Dosing, Effectiveness and Safety of Topiramate for the Treatment of Epilepsy Completed NCT00266604 Phase 4 Topiramate

Search NIH Clinical Center for Seizure Disorder

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Genetic Tests for Seizure Disorder

Genetic tests related to Seizure Disorder:

# Genetic test Affiliating Genes
1 Seizure Disorders 28
2 Seizures 28
3 Seizure 28

Anatomical Context for Seizure Disorder

MalaCards organs/tissues related to Seizure Disorder:

38
Brain, Testes, Temporal Lobe, Heart, Bone, Thalamus, Skin

Publications for Seizure Disorder

Articles related to Seizure Disorder:

(show top 50) (show all 214)
# Title Authors Year
1
Epilepsy or a Seizure Disorder? Parental Knowledge and Misconceptions About Terminology. ( 29173305 )
2017
2
Asynchronous slipped capital femoral epiphysis in a patient with a seizure disorder: case report and review of the literature. ( 28657919 )
2017
3
Long-term Risk of a Seizure Disorder After Eclampsia. ( 29112665 )
2017
4
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
5
Application and Evaluation of Independent Component Analysis Methods to Generalized Seizure Disorder Activities Exhibited in the Brain. ( 27837050 )
2017
6
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. ( 26740507 )
2016
7
Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations. ( 27541164 )
2016
8
Epilepsy or seizure disorder? The effect of cultural and socioeconomic factors on self-reported prevalence. ( 27494358 )
2016
9
Partners in Crime: Kidney Transplantation and Seizure Disorder. ( 27788804 )
2016
10
A method for deciding about the possible safety of modafinil and armodafinil in patients with seizure disorder. ( 26845275 )
2016
11
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
12
Treatment-resistant mania in Dandy-Walker malformation with seizure disorder: A case report. ( 26962361 )
2015
13
Fish consumption in individuals with Down syndrome with seizure disorder: News for prescription. ( 25625531 )
2015
14
Development of mania with carbamazepine for treatment of seizure disorder in a 7-year-old boy. ( 25650677 )
2015
15
Basal transethmoidal encephalocele and malignant hypertension in a parturient with a seizure disorder. A case report. ( 25745752 )
2015
16
Vegetating plaques in a patient with a seizure disorder. ( 26018379 )
2015
17
A Case Report of Klinefelter Syndrome with Schizophrenia-Like Psychosis and Seizure Disorder. ( 26664093 )
2015
18
The impact of co-morbid seizure disorder on neuropsychological functioning in children and adolescents with FASD. ( 26531612 )
2015
19
Childhood insulinoma masquerading as seizure disorder. ( 24698060 )
2014
20
Lennox-lombroso lecture, 2013: psychiatric comorbidities through the life of the seizure disorder: a complex relation with a not so complex solution. ( 25678862 )
2014
21
Psychosis and seizure disorder: challenges in diagnosis and treatment. ( 25234075 )
2014
22
Seizure disorder secondary to remote gunshot wound of the head: a case of sudden unexpected death in epilepsy. ( 24771478 )
2014
23
Unusual 4p16.3 deletions suggest an additional chromosome region for the Wolf-Hirschhorn syndrome-associated seizures disorder. ( 24738919 )
2014
24
Seizure Disorder in a Patient with a 5.09 Mb 7q11.23-q21.11 Microdeletion Including the MAGI2 Gene. ( 26030165 )
2014
25
Clinico-Electroencephalography Pattern and Determinant of 2-year Seizure Control in Patients with Complex Partial Seizure Disorder in Kano, Northwestern Nigeria. ( 24761235 )
2014
26
Absent posterior alpha rhythm: An indirect indicator of seizure disorder? ( 24574560 )
2014
27
Interictal EEG changes in patients with seizure disorder: experience in Bangladesh. ( 23482637 )
2013
28
Maternal seizure disorder and risk of adverse pregnancy outcomes. ( 23380264 )
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
Seizure disorder. ( 23923286 )
2013
31
Assessing Systems of Care for US Children with Epilepsy/Seizure Disorder. ( 24228175 )
2013
32
Aberrant sodium channel activity in the complex seizure disorder of Celf4 mutant mice. ( 23090952 )
2013
33
A 44-year-old patient with a new-onset seizure disorder after vaccination against Japanese encephalitis: a case report. ( 23497732 )
2013
34
Alterations of endocannabinoids in cerebrospinal fluid of dogs with epileptic seizure disorder. ( 24370333 )
2013
35
Seizure disorder among chronic kidney disease patients in Enugu, South East Nigeria. ( 24283099 )
2013
36
Insulinoma presenting as refractory seizure disorder. ( 24358830 )
2012
37
Anterior shoulder instability associated with coracoid nonunion in patients with a seizure disorder. ( 22488624 )
2012
38
A national profile of childhood epilepsy and seizure disorder. ( 22271699 )
2012
39
Risk and causes of death in children with a seizure disorder. ( 22500675 )
2012
40
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
41
Risk and causes of death in children with a seizure disorder. ( 22571767 )
2012
42
Dextromethorphan abuse masquerading as a recurrent seizure disorder. ( 21378523 )
2011
43
First-onset psychotic disorder concurrent with a first-onset seizure disorder. ( 22231334 )
2011
44
20p11 deletion in a female child with panhypopituitarism, cleft lip and palate, dysmorphic facial features, global developmental delay and seizure disorder. ( 21204230 )
2011
45
Successful Gamma Knife-based stereotactic radiosurgery treatment for medically intractable heterotopia-based seizure disorder. ( 21803485 )
2011
46
Clobazam approved for seizure disorder. ( 22095800 )
2011
47
Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder. ( 21775168 )
2011
48
Afebrile seizures associated with respiratory syncytial virus infection: a situation-related seizure disorder in early infancy. ( 21342339 )
2011
49
Etiology of a genetically complex seizure disorder in Celf4 mutant mice. ( 21745337 )
2011
50
POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders. ( 20138553 )
2010

Variations for Seizure Disorder

ClinVar genetic disease variations for Seizure Disorder:

6 (show top 50) (show all 71)
# Gene Variation Type Significance SNP ID Assembly Location
1 CUL4B NM_003588.3(CUL4B): c.1162C> T (p.Arg388Ter) single nucleotide variant Pathogenic rs121434616 GRCh37 Chromosome X, 119678034: 119678034
2 MTR NM_000254.2(MTR): c.3518C> T (p.Pro1173Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121913578 GRCh37 Chromosome 1, 237058770: 237058770
3 ALDH7A1 NM_001182.4(ALDH7A1): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121912708 GRCh37 Chromosome 5, 125919689: 125919689
4 ATP1A3 NM_152296.4(ATP1A3): c.2839G> A (p.Gly947Arg) single nucleotide variant Pathogenic rs398122887 GRCh37 Chromosome 19, 42471896: 42471896
5 WDR45 NM_007075.3(WDR45): c.700C> T (p.Arg234Ter) single nucleotide variant Pathogenic rs387907329 GRCh37 Chromosome X, 48933232: 48933232
6 C12orf57 NM_138425.3(C12orf57): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic/Likely pathogenic rs587776954 GRCh37 Chromosome 12, 7053285: 7053285
7 TSC1 NM_000368.4(TSC1): c.2356C> T (p.Arg786Ter) single nucleotide variant Pathogenic rs118203682 GRCh37 Chromosome 9, 135778027: 135778027
8 TSC1 NM_000368.3(TSC1): c.2509_2512delAACA (p.Asn837Valfs) deletion Pathogenic rs118203707 GRCh37 Chromosome 9, 135776215: 135776218
9 PRRT2 NM_145239.2(PRRT2): c.649dupC (p.Arg217Profs) duplication Pathogenic rs587778771 GRCh37 Chromosome 16, 29825024: 29825024
10 PURA NM_005859.4(PURA): c.812_814delTCT (p.Phe271del) deletion Pathogenic rs587782991 GRCh38 Chromosome 5, 140114993: 140114995
11 PURA NM_005859.4(PURA): c.556C> T (p.Gln186Ter) single nucleotide variant Pathogenic rs587782993 GRCh38 Chromosome 5, 140114737: 140114737
12 PURA NM_005859.4(PURA): c.289A> G (p.Lys97Glu) single nucleotide variant Pathogenic rs587782994 GRCh38 Chromosome 5, 140114470: 140114470
13 PURA NM_005859.4(PURA): c.299T> C (p.Leu100Pro) single nucleotide variant Pathogenic rs587782995 GRCh37 Chromosome 5, 139494065: 139494065
14 PURA NM_005859.4(PURA): c.363C> G (p.Tyr121Ter) single nucleotide variant Pathogenic rs587782996 GRCh38 Chromosome 5, 140114544: 140114544
15 PURA NM_005859.4(PURA): c.783C> G (p.Tyr261Ter) single nucleotide variant Pathogenic rs587782997 GRCh37 Chromosome 5, 139494549: 139494549
16 PURA NM_005859.4(PURA): c.265G> C (p.Ala89Pro) single nucleotide variant Pathogenic rs587782999 GRCh37 Chromosome 5, 139494031: 139494031
17 PURA NM_005859.4(PURA): c.263_265delTCG (p.Ile88_Ala89delinsThr) deletion Pathogenic rs587783000 GRCh38 Chromosome 5, 140114444: 140114446
18 PURA NM_005859.4(PURA): c.596G> C (p.Arg199Pro) single nucleotide variant Pathogenic rs587783001 GRCh38 Chromosome 5, 140114777: 140114777
19 ATP1A3 NM_152296.4(ATP1A3): c.410C> T (p.Ser137Phe) single nucleotide variant Pathogenic rs542652468 GRCh38 Chromosome 19, 41986177: 41986177
20 subset of 12 genes:DYRK1A NC_000021.8: g.(?_38007970)_(39747620_?)del deletion Pathogenic GRCh37 Chromosome 21, 38007970: 39747620
21 DYRK1A NM_001396.3(DYRK1A): c.763C> T (p.Arg255Ter) single nucleotide variant Pathogenic rs724159948 GRCh38 Chromosome 21, 37490273: 37490273
22 DYRK1A NM_001396.4(DYRK1A): c.844dup (p.Ser282Lysfs) duplication Pathogenic rs724159954 GRCh38 Chromosome 21, 37490354: 37490354
23 DYRK1A NM_001396.4(DYRK1A): c.945dup (p.Gln316Alafs) duplication Pathogenic rs724159952 GRCh38 Chromosome 21, 37490455: 37490455
24 DYRK1A NM_001396.4(DYRK1A): c.1232dup (p.Arg413Thrfs) duplication Pathogenic rs724159956 GRCh38 Chromosome 21, 37496251: 37496251
25 DYRK1A NM_001396.3(DYRK1A): c.1309C> T (p.Arg437Ter) single nucleotide variant Pathogenic rs724159953 GRCh38 Chromosome 21, 37505352: 37505352
26 TSEN15 NM_001127394.3(TSEN15): c.226T> G (p.Trp76Gly) single nucleotide variant Pathogenic/Likely pathogenic rs730882223 GRCh38 Chromosome 1, 184054736: 184054736
27 TBCK NM_033115.4(TBCK): c.1708+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs374319146 GRCh38 Chromosome 4, 106194717: 106194717
28 DIAPH1 NM_001079812.2(DIAPH1): c.2305C> T (p.Gln769Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882242 GRCh38 Chromosome 5, 141573518: 141573518
29 ARFGEF2 NM_006420.2(ARFGEF2): c.656dupC (p.Val220Cysfs) duplication Pathogenic/Likely pathogenic rs730882200 GRCh38 Chromosome 20, 48953608: 48953608
30 KCNQ2 NM_172107.3(KCNQ2): c.793G> A (p.Ala265Thr) single nucleotide variant Pathogenic/Likely pathogenic rs794727740 GRCh37 Chromosome 20, 62073782: 62073782
31 TSHR NM_000369.2(TSHR): c.122G> C (p.Cys41Ser) single nucleotide variant Pathogenic rs121908869 GRCh37 Chromosome 14, 81422146: 81422146
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 GRCh37 Chromosome 20, 62070963: 62070965
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.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
# 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:

# 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:

# 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:

# 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
27 GO
28 GTR
29 HGMD
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36 KEGG
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41 MeSH
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54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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