MCID: SZR006
MIFTS: 69

Seizure Disorder

Categories: Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Seizure Disorder

MalaCards integrated aliases for Seizure Disorder:

Name: Seizure Disorder 53 6 3
Seizures 29 6 42 39
Seizure Disorders 6
Epilepsy 70
Seizure 29

Classifications:



External Ids:

UMLS 70 C0014544

Summaries for Seizure Disorder

NINDS : 53 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 malignant migrating partial seizures of infancy and generalized epilepsy with febrile seizures plus, type 7, and has symptoms including seizures, tremor and back pain. An important gene associated with Seizure Disorder is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and Neuroscience. The drugs Nitrazepam and Acetazolamide have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe, brain and cortex, and related phenotypes are behavior/neurological and growth/size/body region

MedlinePlus : 42 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 is a broad term used for a brain disorder that causes seizures. There are many different types of epilepsy. There are also many different kinds of seizures.

Wikipedia : 73 Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. Epileptic... more...

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 Scn1a-Related Seizure Disorders

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

(show top 50) (show all 3104)
# Related Disease Score Top Affiliating Genes
1 malignant migrating partial seizures of infancy 33.4 SCN2A SCN1A LOC102724058
2 generalized epilepsy with febrile seizures plus, type 7 33.3 SCN8A SCN1A LOC102724058
3 benign neonatal seizures 33.3 SCN8A SCN2A SCN1A KCNQ2
4 genetic epilepsy with febrile seizures plus 33.2 SCN2A SCN1A LOC102724058
5 generalized epilepsy with febrile seizures plus 33.2 SCN8A SCN2A SCN1A PRRT2 LOC102724058 KCNQ2
6 seizures, benign familial infantile, 3 33.2 SCN2A KCNQ2
7 generalized epilepsy with febrile seizures plus, type 2 33.1 SCN1A LOC102724058
8 generalized epilepsy with febrile seizures plus, type 1 33.1 SCN1A LOC102724058
9 childhood absence epilepsy 33.1 SCN8A SCN2A SCN1A PRRT2 KCNQ2 DEPDC5
10 benign familial neonatal epilepsy 33.1 SCN8A SCN2A SCN1A PRRT2 KCNQ2
11 benign familial infantile epilepsy 33.0 SCN8A SCN2A SCN1A PRRT2 KCNQ2 DEPDC5
12 epilepsy with myoclonic-atonic seizures 33.0 SCN1A CHD2
13 febrile infection-related epilepsy syndrome 32.9 SCN1A POLG
14 febrile seizures, familial, 1 32.8 SCN2A SCN1A
15 autosomal dominant nocturnal frontal lobe epilepsy 32.8 SCN8A SCN2A SCN1A KCNT2 KCNQ2 DEPDC5
16 epilepsy, myoclonic juvenile 32.8 SCN2A SCN1A KCNQ2 DEPDC5
17 developmental and epileptic encephalopathy 14 32.8 SCN8A SCN2A SCN1A MECP2 DEPDC5
18 early myoclonic encephalopathy 32.7 SCN8A SCN2A SCN1A POLG MECP2 KCNQ2
19 febrile seizures, familial, 2 32.6 SCN2A SCN1A
20 febrile seizures, familial, 5 32.6 SCN2A SCN1A
21 epilepsy with generalized tonic-clonic seizures 32.5 SCN2A SCN1A
22 unverricht-lundborg syndrome 32.5 SCN1A POLG KCNQ2 CLN6
23 convulsions, familial infantile, with paroxysmal choreoathetosis 32.5 SCN8A PRRT2
24 ohtahara syndrome 32.5 SCN8A SCN2A SCN1A LOC102724058 KCNQ2
25 partial motor epilepsy 32.4 SCN8A SCN2A SCN1A POLG KCNT2 KCNQ2
26 developmental and epileptic encephalopathy 13 32.3 SCN8A SCN2A SCN1A
27 landau-kleffner syndrome 32.3 SCN2A SCN1A MECP2 KCNQ2
28 epilepsy, nocturnal frontal lobe, 1 32.2 SCN1A KCNQ2
29 episodic ataxia 32.1 SCN8A SCN2A SCN1A PRRT2 KCNQ2 ATP1A3
30 epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp 32.1 SCN2A PRRT2
31 hemimegalencephaly 32.0 SCN1A LOC102724058
32 pyridoxamine 5-prime-phosphate oxidase deficiency 32.0 KCNQ2 ALDH7A1
33 alternating hemiplegia of childhood 32.0 SCN1A PRRT2 ATP1A3
34 paroxysmal extreme pain disorder 32.0 SCN8A SCN2A SCN1A
35 early onset absence epilepsy 31.9 SCN2A SCN1A KCNQ2 DEPDC5
36 encephalopathy due to defective mitochondrial and peroxisomal fission 1 31.8 SCN1A POLG MECP2
37 neuronal migration disorders 31.6 SCN1A LOC102724058
38 epilepsy 31.6 SCN8A SCN2A SCN1A PRRT2 POLG PIGQ
39 dystonia 31.5 PRRT2 POLG MECP2 KCNQ2 GNB1 ATP1A3
40 developmental and epileptic encephalopathy 31.5 SCN8A SCN1A LOC102724058 KCNT2 KCNQ2
41 reflex epilepsy 31.5 SCN2A SCN1A
42 disease of mental health 31.3 SCN8A SCN2A SCN1A PRRT2 POLG OTUD6B
43 myoclonic epilepsy of infancy 31.2 SCN8A SCN1A LOC102724058
44 microcephaly 31.2 SCN1A POLG MECP2 LOC102724058 GNB1 DYRK1A
45 focal epilepsy 31.1 SCN8A SCN2A SCN1A MECP2 LOC102724058 DEPDC5
46 cortical blindness 31.1 POLG GNB1 ALDH7A1
47 alacrima, achalasia, and mental retardation syndrome 31.1 SCN2A SCN1A OTUD6B MECP2 LOC102724058 LOC101927078
48 febrile seizures 31.1 SCN8A SCN2A SCN1A PRRT2 LOC102724058 KCNQ2
49 west syndrome 31.0 SCN8A SCN2A SCN1A PRRT2 MECP2 LOC102724058
50 status epilepticus 31.0 SCN1A POLG KCNQ2

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:


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

MGI Mouse Phenotypes related to Seizure Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 ALDH7A1 ATP1A3 CHD2 CLN6 DEPDC5 DYRK1A
2 growth/size/body region MP:0005378 10.13 ATP1A3 CHD2 CLN6 DEPDC5 DYRK1A GNB1
3 cardiovascular system MP:0005385 10.06 CHD2 CLN6 DYRK1A GNB1 KCNT2 MECP2
4 mortality/aging MP:0010768 10.03 ALDH7A1 ATP1A3 CHD2 CLN6 DEPDC5 DYRK1A
5 nervous system MP:0003631 9.83 ALDH7A1 ATP1A3 CLN6 DEPDC5 DYRK1A GNB1
6 respiratory system MP:0005388 9.23 ATP1A3 CHD2 GNB1 KCNQ2 MECP2 SCN1A

Drugs & Therapeutics for Seizure Disorder

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

(show top 50) (show all 480)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nitrazepam Approved Phase 4 146-22-5 4506
2
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
3
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
4
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
5
Fosphenytoin Approved, Investigational Phase 4 93390-81-9 56339
6
Labetalol Approved Phase 4 36894-69-6 3869
7
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
8
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
9
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
10
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
11
Oxcarbazepine Approved Phase 4 28721-07-5 34312
12
Tocopherol Approved, Investigational Phase 4 1406-66-2
13
Ivermectin Approved, Investigational, Vet_approved Phase 4 70288-86-7 6474909
14
Imipramine Approved Phase 4 50-49-7 3696
15
Bupropion Approved Phase 4 34841-39-9, 34911-55-2 444
16
Methohexital Approved Phase 4 151-83-7 9034
17
Lithium carbonate Approved Phase 4 554-13-2
18
Norepinephrine Approved Phase 4 51-41-2 439260
19
Nortriptyline Approved Phase 4 72-69-5 4543
20
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
21
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
22
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
23
Furosemide Approved, Vet_approved Phase 4 54-31-9 3440
24
Chlordiazepoxide Approved, Illicit, Investigational Phase 4 58-25-3 2712
25
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
26
Clevidipine Approved, Investigational Phase 4 167221-71-8
27
Hydralazine Approved Phase 4 86-54-4 3637
28
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
29
gamma-Aminobutyric acid Approved, Investigational Phase 4 56-12-2 119
30
Succinylcholine Approved Phase 4 306-40-1 5314
31
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
32
Remifentanil Approved Phase 4 132875-61-7 60815
33
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
34
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
35
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
36
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
37
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
38
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
39
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
40
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
41
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
42
Memantine Approved, Investigational Phase 4 19982-08-2 4054
43
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
44
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
45
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
46
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
47
Amitriptyline Approved Phase 4 50-48-6 2160
48
Rotigotine Approved Phase 4 99755-59-6, 92206-54-7 57537
49
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
50
Rizatriptan Approved Phase 4 145202-66-0, 144034-80-0 5078

Interventional clinical trials:

(show top 50) (show all 1750)
# Name Status NCT ID Phase Drugs
1 Hormone Profiles in Adults Treated With Valproate vs. Lamotrigine Monotherapy for Newly Diagnosed Epilepsy: A Prospective Randomised Study Unknown status NCT00137709 Phase 4 Sodium valproate;Lamotrigine
2 Study to Improve the Treatment of Epilepsy (SITE). A Randomized Study Comparing Adjustment of Treatment to Reduce Side Effects of Antiepileptic Drugs With Continuing Treatment Unchanged Unknown status NCT00133081 Phase 4 All registered antiepileptic drugs
3 Evaluation of Onfi Conversion Therapy Replacing Clonazepam in Patients With Medically Refractory Epilepsy: Efficacy, Tolerability, Dosing Equivalence, and Retention Rate Unknown status NCT01932502 Phase 4 clobazam (Onfi);Initial conversion and titration;Conversion schedule - Week 1;Conversion schedule - Week 2;Conversion schedule - Week 3
4 Prospective Open Label Evaluation of Clobazam Adjunctive Treatment of Adults With Refractory Focal Epilepsy: A Pilot Study Unknown status NCT02726919 Phase 4 Clobazam
5 A Randomised Controlled Trial of the Ketogenic Diet in the Treatment of Epilepsy in Children Under the Age of Two Years Unknown status NCT02205931 Phase 4 Antiepileptic drug therapy
6 Efficacy of Levetiracetam in Control of Neonatal Seizures Unknown status NCT03107507 Phase 4 Levetiracetam;Phenobarbital
7 Efficacy of Phenytoin in the Prophylaxis of Seizures of Patients With Pneumococcal Meningitis at Least 50 Yrs Old. A Multi-center Comparative Randomized Double-blind and Placebo-controlled Clinical Trial Unknown status NCT01478035 Phase 4 Phenytoin;placebo
8 Hyperventilation and ECT Seizure Duration: Effects on Cerebral Oxygen Saturation, and Therapeutic Outcome With Comparisons Between Etomidate and Ketamine in Patients With Major Depressive Disorder Unknown status NCT02924090 Phase 4 Etomidate;Ketamine
9 Comparing Ketogenic Diet With the Most Appropriate Antiepileptic Drug- a Randomized Study of Children With Mental Retardation and Drug Resistant Epilepsy Unknown status NCT00552526 Phase 4 Antiepileptic drug (AED)
10 The Impact of Reducing Overtreatment on Quality of Life in Children With Refractory Epilepsy Unknown status NCT00647322 Phase 4
11 Effects on the Diagnostic Accuracy of Magnetic Imaging Angiographies of the Supra-Aortic Vessels by Three Different Magnetic Resonance Contrast Agents in Patients With Headache and Dizziness or Epilepsy and Clinical Indication for an Angiography by Magnetic Imaging Unknown status NCT00132223 Phase 4 Contrast agent
12 Conversion From Multiple-Daily Dose Enteric-Coated Depakote to Once-Daily Depakote ER in Elderly Outpatients With Epilepsy or Behavioral Disturbances: Unknown status NCT00312676 Phase 4
13 Effects of Perampanel on Cognition and Electroencephalography in Patients With Epilepsy Unknown status NCT02900755 Phase 4 Perampanel
14 Immunotherapy in Intractable Cryptogenic Epilepsy Patients With Autoimmune Antibody Unknown status NCT02695797 Phase 4 Prednisolone
15 A Randomized Controlled Trial of Generic Substitution of Antiepileptic Drugs Unknown status NCT02429596 Phase 4 Experimental
16 Comparison of Oral 30 % Dextrose and iv Midazolam Sedation During MRI in Neonates Unknown status NCT02645279 Phase 4 IV midazolam
17 Open Label Study of Milnacipran in the Preventive Treatment of Episodic Migraine With and Without Aura and Chronic Migraine. Unknown status NCT01319825 Phase 4 milnacipran
18 Efficacy and Safety of Eslicarbazepine Acetate as First Add-on to Levetiracetam or Lamotrigine Monotherapy or as Later Adjunctive Treatment for Subjects With Uncontrolled Partial-onset Seizures: A Multicenter, Open-label, Non-randomized Trial Completed NCT03116828 Phase 4 Eslicarbazepine acetate;Eslicarbazepine Acetate
19 A Multi-Center, Double-Blind, Randomized, Placebo-Controlled, Parallel-Group Evaluation of Lamotrigine Adjunctive Therapy in Subjects Wtih Primary Generalized Tonic-Clonic Seizures Completed NCT00043901 Phase 4 lamotrigine
20 A Multicenter, Single-arm, Open-label, Postmarketing Safety Study to Evaluate the Risk of Seizure Among Subjects With Metastatic Castration-Resistant Prostate Cancer (mCRPC) Treated With Enzalutamide Who Are at Potential Increased Risk of Seizure Completed NCT01977651 Phase 4 Enzalutamide
21 Antiepileptic Drugs and Osteoporotic Prevention Trial Completed NCT00869622 Phase 4 Risedronate;Placebo + Calcium and Vitamin D
22 TOPAMAX� (Topiramate) Initiated as Monotherapy in Epilepsy (TIME): A Multicenter, Outpatient, Open-Label, Study to Evaluate the Dosing, Effectiveness and Safety of TOPAMAX� as Monotherapy in the Treatment of Epilepsy in Clinical Practice Completed NCT00266604 Phase 4 Topiramate
23 IV Keppra in the Emergency Department for Prevention of Early Recurrent Seizures Completed NCT00510783 Phase 4 Keppra;Fosphenytoin;Dilantin
24 A Multicentre, Randomised, Active Comparator, Parallel Group Study To Compare The Effect On Cognition Of Adjunctive Therapy With Zonisamide Versus Sodium Valproate Completed NCT00713622 Phase 4 Zonisamide;Sodium valproate
25 Multicenter, Open-label Trial Evaluating the Efficacy and Safety of Perampanel Added to Monotherapy in Patients With Partial Onset Seizures With or Without Secondary Generalization Completed NCT02726074 Phase 4 Perampanel
26 A Randomized, Open-label, Parallel Group, Multi-center, Comparative, Phase IV Trial of Levetiracetam (LEV) Versus Topiramate (TPM) as Adjunctive Therapy to Evaluate Efficacy and Safety in Subjects With Refractory Partial Onset Seizures Completed NCT01229735 Phase 4 Levetiracetam;Topiramate
27 The Comparision of Different Doses of Sevoflurane for Induction of General Anesthesia in Electroconvulsive Therapy Completed NCT01905904 Phase 4 sevorane
28 Women With Epilepsy: a Pilot Study of Pharmacokinetic and Pharmacodynamic Anti-epileptic Drug Effects in Levonorgestrel Intrauterine System Users Completed NCT02362373 Phase 4 levonorgestrel IUS
29 Comprehensive Information Imparted to Patients With Epilepsy and Comorbidity and Decreased Prevalence of Adverse Treatment Effects. The EDU-COM Study. Completed NCT01804322 Phase 4
30 A Multicenter, Open-Label Conversion of Valproate Monotherapy to Lamotrigine Monotherapy in Patients With Epilepsy Completed NCT00043914 Phase 4 lamotrigine
31 Effect of Small Changes in Plasma Valproic Acid Concentration on the Photoparoxysmal Response Completed NCT00609245 Phase 4 Valproic Acid;Placebo
32 Phenytoin and Driving Safety Completed NCT00581893 Phase 4 Phenytoin
33 Evaluation of Bioequivalence of Lamotrigine Tablets in Epileptic Patients Completed NCT01995825 Phase 4 Brand lamotrigine;Generic lamotrigine
34 A Clinical Pharmacokinetics Comparing Brand and Generic Topiramate in Epilepsy Patients : A Open-label,Randomised, Three-period Crossover Study Completed NCT02113787 Phase 4
35 IV Lacosamide: The Safety of Intravenous Lacosamide Completed NCT00832884 Phase 4 Lacosamide
36 Gabapentin as an Adjunct for Pain Management During Dilation and Evacuation: A Double-blind Randomized Controlled Trial Completed NCT03635905 Phase 4 Gabapentin;Placebo
37 The Effects on Cognitive Function of Levetiracetam (Keppra®) Compared to Carbamazepine (Tegretol®, Carmazepine®) as Monotherapy for Children With Partial Seizure; A Multicentric Randomized Controlled Study Completed NCT02208492 Phase 4 Levetiracetam;Carabamazepine
38 A Controlled Study of Ultrabrief Pulsewidth ECT (Electroconvulsive Therapy) Completed NCT00870805 Phase 4
39 A Randomized, Double-blind, Parallel-group Multi-center Comparative Flexible-dose Trial Of Pregabalin Versus Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures. Completed NCT00537940 Phase 4 Pregabalin;Gabapentin
40 Comparison Study of Efficacy and Safety of Levetiracetam Versus Valproate in Treatment of Idiopathic Generalized Tonic-clonic Seizures Completed NCT03940326 Phase 4 Levetiracetam;Valproate
41 A 24-Week Prospective, Open-Label, Multicenter Study to Evaluate the Effect on Seizure Frequency, Safety and Tolerability of Oxcarbazepine Monotherapy in Adult Patients With Partial Seizures Completed NCT00275925 Phase 4 Oxcarbazepine
42 A 24-week Prospective Open-label Multicenter Study to Evaluate the Effect on Seizure Frequency, Safety and Tolerability of Oxcarbazepine Monotherapy in Children With Partial Seizures Completed NCT00275912 Phase 4 Oxcarbazepine
43 Effect of Melatonin on Seizure Outcome, Neuronal Damage and Quality of Life in Patients With Generalized Epilepsy: A Randomized, add-on Placebo-controlled Clinical Trial Completed NCT03590197 Phase 4 Melatonin 3 mg
44 Ivermectin Treatment in Patients With Onchocerciasis-associated Epilepsy: A Randomized Clinical Trial Completed NCT03052998 Phase 4 Ivermectin
45 OAETREAT Extra Ivermectin Treatment of Persons With Onchocerciasis-associated Epilepsy: a Completed NCT03852303 Phase 4 ivermectin
46 Medication Treatment Following Neuropsychologic, Dichotic and f-MRI Tests in Depressed Outpatients With Repeat f-MRI Following Treatment Completed NCT00296777 Phase 4 Escitalopram;Bupropion;Imipramine
47 Medication and Psychotherapy Treatment Trial for Psychogenic Nonepileptic Seizures Completed NCT00835627 Phase 4 sertraline
48 A Randomised Controlled Trial of Standard Bilateral Electroconvulsive Therapy Versus High-dose Unilateral Electroconvulsive Therapy for Severe Depression Completed NCT01907217 Phase 4 Methohexitone;Suxamethonium
49 Optimization of Electroconvulsive Therapy Completed NCT00045916 Phase 4 Nortriptyline;Venlafaxine;Lithium
50 Lyrica (Pregabalin) Administered As An Add-On Therapy For Partial Seizures (LEADER) An Open-Label, Multicenter Add-On Therapy Trial Completed NCT00288639 Phase 4 Pregabalin

Search NIH Clinical Center for Seizure Disorder

Inferred drug relations via UMLS 70 / NDF-RT 51 :


Anti-epileptic Agent [EPC]
Divalproex Sodium
Ethosuximide
Ethotoin
felbamate
fosphenytoin
Fosphenytoin sodium
gabapentin
gabapentin enacarbil
lacosamide
lamotrigine
Levetiracetam
Mephenytoin
methsuximide
oxcarbazepine
Phenytoin
Phenytoin sodium
PHENYTOIN SODIUM,EXTENDED
PHENYTOIN SODIUM,PROMPT
Primidone
Sodium Valproate
tiagabine
Tiagabine hydrochloride
topiramate
Trimethadione
Valproic Acid
Vigabatrin
zonisamide

Genetic Tests for Seizure Disorder

Genetic tests related to Seizure Disorder:

# Genetic test Affiliating Genes
1 Seizures 29
2 Seizure 29

Anatomical Context for Seizure Disorder

MalaCards organs/tissues related to Seizure Disorder:

40
Temporal Lobe, Brain, Cortex, Amygdala, Thalamus, Eye, Bone

Publications for Seizure Disorder

Articles related to Seizure Disorder:

(show top 50) (show all 31909)
# Title Authors PMID Year
1
Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures. 6 61
27108799 2016
2
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 61 6
25982755 2015
3
Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. 61 6
23621294 2013
4
Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 6 61
23360469 2013
5
Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes. 6 61
22036597 2012
6
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. 6 61
20956790 2010
7
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency. 61 6
20370816 2010
8
Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization. 6 61
18483067 2008
9
Mutations in antiquitin in individuals with pyridoxine-dependent seizures. 6 61
16491085 2006
10
KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 61 6
14534157 2003
11
A deletion in SCN1B is associated with febrile seizures and early-onset absence epilepsy. 6 61
14504340 2003
12
Functional and biochemical analysis of a sodium channel beta1 subunit mutation responsible for generalized epilepsy with febrile seizures plus type 1. 6 61
12486163 2002
13
Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. 6 61
12011299 2002
14
Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family. 61 6
10643924 2000
15
Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. 6 61
9697698 1998
16
Clinical seizures and unfavorable brain MRI patterns in neonates with hypoxic ischemic encephalopathy. 61 42
33761675 2021
17
Dysregulation of REV-ERBα impairs GABAergic function and promotes epileptic seizures in preclinical models. 42 61
33619249 2021
18
A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy. 6
33473208 2021
19
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
20
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 6
30690204 2020
21
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. 6
31616000 2019
22
KCNQ2 related early-onset epileptic encephalopathies in Chinese children. 6
31152295 2019
23
PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype. 6
31148362 2019
24
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy. 6
31104773 2019
25
Quantitative neuroimaging biomarkers in a series of 20 adult patients with POLG mutations. 6
29474836 2019
26
IRF2BPL Is Associated with Neurological Phenotypes. 6
30057031 2018
27
Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies. 6
29263209 2018
28
Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel. 6
29056246 2017
29
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies. 6
28717674 2017
30
Understanding the Epilepsy in POLG Related Disease. 6
28837072 2017
31
Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy. 6
28488083 2017
32
Pathogenicity in POLG syndromes: DNA polymerase gamma pathogenicity prediction server and database. 6
28480171 2017
33
In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. 6
28027978 2017
34
Synergistic Effects of the in cis T251I and P587L Mitochondrial DNA Polymerase γ Disease Mutations. 6
28154168 2017
35
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 6
26795593 2016
36
Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy. 6
27236917 2016
37
β1-C121W Is Down But Not Out: Epilepsy-Associated Scn1b-C121W Results in a Deleterious Gain-of-Function. 6
27277800 2016
38
A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm. 6
26923739 2016
39
KCNT1 mutations in seizure disorders: the phenotypic spectrum and functional effects. 6
26740507 2016
40
The spectrum of epilepsy caused by POLG mutations. 6
26104464 2016
41
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 6
26805781 2016
42
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome. 6
26138355 2016
43
Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation. 6
26755490 2016
44
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease. 6
26539891 2015
45
Variable clinical expression in patients with mosaicism for KCNQ2 mutations. 6
25959266 2015
46
De novo KCNT1 mutations in early-onset epileptic encephalopathy. 6
26140313 2015
47
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination. 6
26224730 2015
48
Epileptic spasms are a feature of DEPDC5 mTORopathy. 6
27066554 2015
49
Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. 6
25356970 2015
50
Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes. 6
25726841 2015

Variations for Seizure Disorder

ClinVar genetic disease variations for Seizure Disorder:

6 (show top 50) (show all 2290)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 KCNQ2 NM_172107.4(KCNQ2):c.869G>T (p.Gly290Val) SNV Pathogenic 523563 rs397514582 GRCh37: 20:62071009-62071009
GRCh38: 20:63439656-63439656
2 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3723_3726del (p.Ile1240_Tyr1241insTer) Deletion Pathogenic 436650 rs1553531385 GRCh37: 2:166868772-166868775
GRCh38: 2:166012262-166012265
3 ATP6V0C NM_001694.4(ATP6V0C):c.467A>T (p.Ter156Leu) SNV Pathogenic 816939 GRCh37: 16:2569745-2569745
GRCh38: 16:2519744-2519744
4 SYN1 NM_006950.3(SYN1):c.1447C>T (p.Gln483Ter) SNV Pathogenic 933135 GRCh37: X:47433936-47433936
GRCh38: X:47574537-47574537
5 KCNQ2 NM_172107.4(KCNQ2):c.232C>T (p.Gln78Ter) SNV Pathogenic 933133 GRCh37: 20:62103585-62103585
GRCh38: 20:63472232-63472232
6 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3526G>T (p.Glu1176Ter) SNV Pathogenic 917889 GRCh37: 2:166872141-166872141
GRCh38: 2:166015631-166015631
7 WDR73 NM_032856.5(WDR73):c.42-1G>C SNV Pathogenic 812997 rs1596057578 GRCh37: 15:85196931-85196931
GRCh38: 15:84653700-84653700
8 KCNQ2 NM_172107.4(KCNQ2):c.626T>C (p.Ile209Thr) SNV Pathogenic 812512 rs1600785769 GRCh37: 20:62076076-62076076
GRCh38: 20:63444723-63444723
9 MYO5A NM_000259.3(MYO5A):c.4200C>G (p.Ser1400Arg) SNV Pathogenic 242881 rs1114167290 GRCh37: 15:52632432-52632432
GRCh38: 15:52340235-52340235
10 HACE1 NM_020771.4(HACE1):c.805C>T (p.Arg269Ter) SNV Pathogenic 221295 rs750371878 GRCh37: 6:105244541-105244541
GRCh38: 6:104796666-104796666
11 BPTF NM_182641.4(BPTF):c.5337_5338del (p.Val1780fs) Deletion Pathogenic 598947 rs1568070621 GRCh37: 17:65914862-65914863
GRCh38: 17:67918746-67918747
12 TTC21B NC_000002.11:g.166679228_166818452inv Inversion Pathogenic 635921 GRCh37: 2:166679228-166818452
GRCh38:
13 SNHG14 , UBE3A NM_130839.5(UBE3A):c.2272G>A (p.Gly758Arg) SNV Pathogenic 373923 rs1057518770 GRCh37: 15:25599683-25599683
GRCh38: 15:25354536-25354536
14 CTSF NM_003793.4(CTSF):c.649C>T (p.Arg217Ter) SNV Pathogenic 588283 rs375562245 GRCh37: 11:66333834-66333834
GRCh38: 11:66566363-66566363
15 STX1B NM_052874.5(STX1B):c.733C>T (p.Arg245Ter) SNV Pathogenic 590057 rs780843272 GRCh37: 16:31004504-31004504
GRCh38: 16:30993183-30993183
16 ALDH7A1 NM_001182.5(ALDH7A1):c.947dup (p.Ser317fs) Duplication Pathogenic 590098 rs778003597 GRCh37: 5:125894992-125894993
GRCh38: 5:126559300-126559301
17 POLG NM_002693.2(POLG):c.3104+3A>T SNV Pathogenic 587863 rs778573169 GRCh37: 15:89862456-89862456
GRCh38: 15:89319225-89319225
18 CEP128 , TSHR NM_000369.5(TSHR):c.122G>C (p.Cys41Ser) SNV Pathogenic 6442 rs121908869 GRCh37: 14:81422146-81422146
GRCh38: 14:80955802-80955802
19 SYN3 NM_003490.4(SYN3):c.1444_1445delinsTT (p.Pro482Leu) Indel Pathogenic 375384 rs1057519444 GRCh37: 22:32914195-32914196
GRCh38: 22:32518208-32518209
20 overlap with 4 genes Deletion Pathogenic 635920 GRCh37: 2:166050817-166679227
GRCh38:
21 SCN1A Deletion Pathogenic 635922 GRCh37: 2:166818453-166939516
GRCh38:
22 CDKL5 NM_001323289.2(CDKL5):c.2094del (p.Glu699fs) Deletion Pathogenic 992590 GRCh37: X:18627630-18627630
GRCh38: X:18609510-18609510
23 CDK20 NM_001039803.2(CDK20):c.564G>A (p.Trp188Ter) SNV Pathogenic 375376 rs1057519438 GRCh37: 9:90584834-90584834
GRCh38: 9:87969919-87969919
24 HIVEP1 NM_002114.4(HIVEP1):c.4089G>C (p.Met1363Ile) SNV Pathogenic 375377 rs776300630 GRCh37: 6:12124117-12124117
GRCh38: 6:12123884-12123884
25 SCN2A NM_001040142.2(SCN2A):c.4976C>T (p.Ala1659Val) SNV Pathogenic 410984 rs1060503101 GRCh37: 2:166245292-166245292
GRCh38: 2:165388782-165388782
26 DYRK1A NM_001347721.2(DYRK1A):c.918dup (p.Gln307fs) Duplication Pathogenic 162156 rs724159952 GRCh37: 21:38862753-38862754
GRCh38: 21:37490451-37490452
27 DYRK1A NM_001347721.2(DYRK1A):c.817dup (p.Ser273fs) Duplication Pathogenic 162159 rs724159954 GRCh37: 21:38862655-38862656
GRCh38: 21:37490353-37490354
28 DYRK1A NM_001347721.2(DYRK1A):c.1205dup (p.Arg404fs) Duplication Pathogenic 162161 rs724159956 GRCh37: 21:38868551-38868552
GRCh38: 21:37496249-37496250
29 overlap with 5 genes Deletion Pathogenic 223117 GRCh37: 22:51027581-51234443
GRCh38:
30 TANGO2 NM_152906.7(TANGO2):c.146-3605_451+2245del Deletion Pathogenic 224772 GRCh37: 22:20036383-20045781
GRCh38: 22:20048860-20058258
31 GNB1 NM_002074.5(GNB1):c.976G>A (p.Ala326Thr) SNV Pathogenic 224718 rs869312826 GRCh37: 1:1718817-1718817
GRCh38: 1:1787378-1787378
32 GNB1 NM_002074.5(GNB1):c.228T>G (p.Asp76Glu) SNV Pathogenic 224712 rs869312822 GRCh37: 1:1737953-1737953
GRCh38: 1:1806514-1806514
33 NALCN NM_052867.4(NALCN):c.3390G>A (p.Pro1130=) SNV Pathogenic 222073 rs869312873 GRCh37: 13:101742197-101742197
GRCh38: 13:101089846-101089846
34 CUL4B NM_003588.3(CUL4B):c.1162C>T (p.Arg388Ter) SNV Pathogenic 11339 rs121434616 GRCh37: X:119678034-119678034
GRCh38: X:120544179-120544179
35 SLC2A1 NM_006516.3(SLC2A1):c.470dup (p.Thr158fs) Duplication Pathogenic 373993 rs1057518821 GRCh37: 1:43396342-43396343
GRCh38: 1:42930671-42930672
36 DHX30 NM_138615.3(DHX30):c.1478G>A (p.Arg493His) SNV Pathogenic 375374 rs1057519436 GRCh37: 3:47888040-47888040
GRCh38: 3:47846550-47846550
37 DNAH7 NM_018897.3(DNAH7):c.10753T>C (p.Phe3585Leu) SNV Pathogenic 375378 rs1057519439 GRCh37: 2:196651859-196651859
GRCh38: 2:195787135-195787135
38 MPP4 NM_033066.3(MPP4):c.946T>C (p.Trp316Arg) SNV Pathogenic 375383 rs1057519443 GRCh37: 2:202539978-202539978
GRCh38: 2:201675255-201675255
39 HNRNPU NM_031844.3(HNRNPU):c.1714C>T (p.Arg572Ter) SNV Pathogenic 267737 rs1135401733 GRCh37: 1:245020059-245020059
GRCh38: 1:244856757-244856757
40 KCNK4-TEX40 , KCNK4 NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu) SNV Pathogenic 560221 rs1565369746 GRCh37: 11:64064979-64064979
GRCh38: 11:64297507-64297507
41 KCNK4-TEX40 , KCNK4 NM_033310.3(KCNK4):c.730G>C (p.Ala244Pro) SNV Pathogenic 560222 rs1189909394 GRCh37: 11:64065650-64065650
GRCh38: 11:64298178-64298178
42 SCN1A NM_001165963.4(SCN1A):c.777C>A (p.Ser259Arg) SNV Pathogenic 68673 rs121918735 GRCh37: 2:166908416-166908416
GRCh38: 2:166051906-166051906
43 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) SNV Pathogenic 159315 rs587784105 GRCh37: 5:176662864-176662864
GRCh38: 5:177235863-177235863
44 SCN1A , LOC102724058 NM_001165963.4(SCN1A):c.3327dup (p.Ser1110fs) Duplication Pathogenic 599005 rs1559193213 GRCh37: 2:166892659-166892660
GRCh38: 2:166036149-166036150
45 EEF1B2 NM_001959.4(EEF1B2):c.383C>A (p.Ser128Ter) SNV Pathogenic 689450 rs1576016842 GRCh37: 2:207026814-207026814
GRCh38: 2:206162090-206162090
46 FOXP1 NM_032682.6(FOXP1):c.1630C>T (p.Arg544Ter) SNV Pathogenic 626283 rs1559602356 GRCh37: 3:71021728-71021728
GRCh38: 3:70972577-70972577
47 KCNT2 NM_198503.5(KCNT2):c.143_144del (p.Leu48fs) Deletion Pathogenic 695094 rs1572630269 GRCh37: 1:196461423-196461424
GRCh38: 1:196492293-196492294
48 ZNF142 NM_001105537.4(ZNF142):c.4002del (p.Leu1335fs) Deletion Pathogenic 635279 rs1575060677 GRCh37: 2:219507237-219507237
GRCh38: 2:218642514-218642514
49 SLC2A1 NM_006516.4(SLC2A1):c.732_735GAAG[1] (p.Glu246fs) Microsatellite Pathogenic 812757 rs1570592604 GRCh37: 1:43395392-43395395
GRCh38: 1:42929721-42929724
50 KCNA2 NM_004974.4(KCNA2):c.590del (p.Gly197fs) Deletion Pathogenic 816892 rs1570753525 GRCh37: 1:111146815-111146815
GRCh38: 1:110604193-110604193

Copy number variations for Seizure Disorder from CNVD:

7
# CNVD ID Chromosome 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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.25 SCN8A SCN2A SCN1A KCNT2 ATP1A3
2 11.97 SCN8A SCN2A SCN1A MECP2 KCNQ2 DYRK1A
3
Show member pathways
11.55 SCN8A SCN2A SCN1A KCNQ2
4
Show member pathways
11.37 SCN8A SCN2A SCN1A
5 10.4 SCN8A SCN2A SCN1A KCNQ2

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 axon GO:0030424 9.73 SCN8A SCN2A SCN1A PRRT2 DYRK1A ATP1A3
2 Z disc GO:0030018 9.58 SCN8A SCN1A KCNN2
3 T-tubule GO:0030315 9.5 SCN2A SCN1A KCNN2
4 sodium channel complex GO:0034706 9.37 SCN2A SCN1A
5 axon initial segment GO:0043194 9.33 SCN8A SCN1A KCNQ2
6 voltage-gated sodium channel complex GO:0001518 9.13 SCN8A SCN2A SCN1A
7 node of Ranvier GO:0033268 8.92 SCN8A SCN2A SCN1A KCNQ2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 regulation of ion transmembrane transport GO:0034765 9.76 SCN8A SCN2A SCN1A KCNQ2
2 potassium ion transport GO:0006813 9.73 KCNT2 KCNQ2 KCNN2 ATP1A3
3 ion transmembrane transport GO:0034220 9.72 SCN8A SCN2A SCN1A KCNQ2 ATP1A3
4 potassium ion transmembrane transport GO:0071805 9.71 KCNT2 KCNQ2 KCNN2 ATP1A3
5 ion transport GO:0006811 9.7 SCN8A SCN2A SCN1A KCNT2 KCNQ2 KCNN2
6 sodium ion transmembrane transport GO:0035725 9.67 SCN8A SCN2A SCN1A
7 sodium ion transport GO:0006814 9.67 SCN8A SCN2A SCN1A ATP1A3
8 cation transmembrane transport GO:0098655 9.65 SCN8A SCN2A SCN1A
9 neuronal action potential GO:0019228 9.43 SCN8A SCN2A SCN1A
10 membrane depolarization during action potential GO:0086010 9.13 SCN8A SCN2A SCN1A
11 neuromuscular process controlling posture GO:0050884 8.8 SCN1A PRRT2 MECP2

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

# Name GO ID Score Top Affiliating Genes
1 ion channel activity GO:0005216 9.62 SCN8A SCN2A SCN1A KCNQ2
2 voltage-gated ion channel activity GO:0005244 9.46 SCN8A SCN2A SCN1A KCNQ2
3 cation channel activity GO:0005261 9.43 SCN8A SCN2A SCN1A
4 sodium channel activity GO:0005272 9.13 SCN8A SCN2A SCN1A
5 voltage-gated sodium channel activity GO:0005248 8.8 SCN8A SCN2A SCN1A

Sources for Seizure Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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