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MCID: EPL164
MIFTS: 71

Epilepsy

Categories: Genetic diseases, Neuronal diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Epilepsy

About this section

MalaCards integrated aliases for Epilepsy:

Name: Epilepsy 12 74 53 29 54 6 42 3 43 15 62 39 17 71 32
Epilepsy Syndrome 12 58
Epileptic Syndrome 12
Epilepsies 15

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 32
Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:1826
ICD9CM 34 345.9
MeSH 43 D004827
NCIt 49 C3020
SNOMED-CT 67 84757009
Orphanet 58 ORPHA166463
UMLS 71 C0014544
Sources

Summaries for Epilepsy

About this section
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 : Epilepsy, also known as epilepsy syndrome, is related to epilepsy, myoclonic juvenile and benign epilepsy with centrotemporal spikes, and has symptoms including seizures, tremor and back pain. An important gene associated with Epilepsy is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Cardiac conduction and Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. The drugs Stiripentol and Ethosuximide have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe, brain and testes, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions.

MedlinePlus : 42 Epilepsy is a brain disorder that causes people to have recurring seizures. The seizures happen when clusters of nerve cells, or neurons, in the brain send out the wrong signals. People may have strange sensations and emotions or behave strangely. They may have violent muscle spasms or lose consciousness. Epilepsy has many possible causes, including illness, brain injury, and abnormal brain development. In many cases, the cause is unknown. Doctors use brain scans and other tests to diagnose epilepsy. It is important to start treatment right away. There is no cure for epilepsy, but medicines can control seizures for most people. When medicines are not working well, surgery or implanted devices such as vagus nerve stimulators may help. Special diets can help some children with 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.

PubMed Health : 62 About epilepsy: In epilepsy, certain areas of the brain or all areas of the brain are overactive, sending too many signals. This results in seizures, sometimes also referred to as epileptic fits. Epileptic seizures can take different forms. They may cause only a few muscles to twitch, for instance, or they may cause your whole body to convulse (shake uncontrollably) and lead to loss of consciousness. Epilepsy can arise at any age. Some people have their first seizure in childhood, and others have their first seizure in older age. There are usually no physical symptoms in between seizures. But the constant fear of having another seizure may affect your work and private life. Medication can help to prevent seizures and maintain a good quality of life. Unfortunately, medication doesn't always help, though: About 3 out of 10 people still have regular seizures. This makes it particularly difficult for them to live with the condition.

Wikipedia : 74 Epilepsy is a group of neurological disorders characterized by recurrent epileptic seizures. Epileptic... more...

Sources

Related Diseases for Epilepsy

About this section

Diseases in the Epilepsy family:

Benign Familial Infantile Epilepsy Depdc5-Related Epilepsy
Kcnt1-Related Epilepsy Infectious Disease with Epilepsy
Inflammatory and Autoimmune Disease with Epilepsy Infantile Epilepsy Syndrome
Rare Epilepsy

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

(show top 50) (show all 2499)
# Related Disease Score Top Affiliating Genes
1 epilepsy, myoclonic juvenile 36.3 SLC2A1 SCN1B SCN1A NHLRC1 LGI1 GABRG2
2 benign epilepsy with centrotemporal spikes 36.1 SLC2A1 SCN1B SCN1A RELN LGI1 GABRG2
3 childhood absence epilepsy 36.0 SLC2A1 SCN8A SCN1B SCN1A LGI1 GABRG2
4 epilepsy, idiopathic generalized 36.0 SLC2A1 SCN8A SCN1B SCN1A LGI1 GABRG2
5 autosomal dominant nocturnal frontal lobe epilepsy 35.8 SCN8A SCN1B SCN1A LGI1 GABRG2 GABRA1
6 generalized epilepsy with febrile seizures plus 35.7 SCN8A SCN1B SCN1A LGI1 GABRG2 GABRA1
7 focal epilepsy 35.6 SLC2A1 SCN8A SCN1B SCN1A RELN LGI1
8 epileptic encephalopathy, early infantile, 6 35.6 SLC2A1 SCN8A SCN1B SCN1A LGI1 GABRG2
9 photosensitive epilepsy 35.4 SCN1A NHLRC1 LGI1 GABRG2 GABRA1 EFHC1
10 benign familial infantile epilepsy 35.4 SLC2A1 SCN8A SCN1B SCN1A LGI1 GABRG2
11 epilepsy, nocturnal frontal lobe, 1 35.3 SCN1B SCN1A GABRG2 CHRNB2 CHRNA4
12 myoclonic epilepsy of lafora 35.3 NHLRC1 EPM2A CSTB
13 early myoclonic encephalopathy 35.3 SCN8A SCN1B SCN1A NHLRC1 GABRG2 GABRA1
14 temporal lobe epilepsy 35.3 SCN1B SCN1A RELN LGI1
15 unverricht-lundborg syndrome 35.3 SCN1B NHLRC1 GABRG2 EPM2A EFHC1 CSTB
16 epilepsy, familial temporal lobe, 1 35.2 RELN LGI1 EFHC1 CHRNB2
17 juvenile absence epilepsy 35.2 SCN1A GABRG2 GABRA1 EFHC1
18 visual epilepsy 35.0 SLC2A1 SCN1B SCN1A NHLRC1 GABRG2 EPM2A
19 epilepsy, familial temporal lobe, 5 35.0 SCN1B SCN1A GABRG2
20 progressive myoclonus epilepsy, lafora type 35.0 NHLRC1 EPM2A
21 progressive myoclonus epilepsy 34.9 NHLRC1 EPM2A CSTB
22 epilepsy with generalized tonic-clonic seizures 34.9 SCN1B SCN1A GABRG2 EFHC1 CSTB
23 generalized epilepsy with febrile seizures plus, type 1 34.9 SCN1B SCN1A
24 reflex epilepsy 34.9 SCN1A LGI1 GABRG2 CHRNB2
25 early onset absence epilepsy 34.9 SLC2A1 SCN1B SCN1A GABRG2 GABRA1 EFHC1
26 epilepsy, nocturnal frontal lobe, 3 34.9 CHRNB2 CHRNA4
27 epilepsy, nocturnal frontal lobe, 2 34.8 CHRNB2 CHRNA4
28 benign neonatal seizures 34.8 SCN1B SCN1A GABRG2 GABRA1 EFHC1 CHRNB2
29 myoclonic epilepsy of infancy 34.8 SCN8A SCN1A GABRG2
30 myoclonus epilepsy 34.6 NHLRC1 EPM2A CSTB
31 autosomal dominant epilepsy with auditory features 34.6 RELN LGI1
32 lennox-gastaut syndrome 34.4 SLC2A1 SCN8A SCN1B SCN1A GABRG2 GABRA1
33 west syndrome 34.3 SLC2A1 SCN8A SCN1B SCN1A RELN GABRG2
34 partial motor epilepsy 34.3 SCN1A LGI1
35 early infantile epileptic encephalopathy 34.2 SLC2A1 SCN8A SCN1B SCN1A LGI1 GABRG2
36 epileptic encephalopathy, early infantile, 13 34.1 SCN8A SCN1B SCN1A
37 mental retardation, x-linked, syndromic, hedera type 34.0 LGI1 GABRA1
38 landau-kleffner syndrome 33.9 SCN8A SCN1A GABRG2
39 febrile seizures 33.9 SCN1B SCN1A GABRG2
40 electroclinical syndrome 33.9 SLC2A1 SCN8A SCN1B SCN1A NHLRC1 LGI1
41 myoclonus 33.7 SLC2A1 SCN8A NHLRC1 EPM2A CSTB
42 hyperekplexia 33.4 LGI1 GABRG2 GABRA1 CHRNA4
43 migraine with or without aura 1 33.1 SCN8A SCN1A CACNB4 ATP1A3
44 neuronal migration disorders 33.0 SCN1A RELN
45 status epilepticus 32.9 SCN1A NHLRC1 LGI1
46 familial hemiplegic migraine 32.8 SCN1A CACNB4 ATP1A3
47 autism 32.5 SCN8A SCN1A RELN GABRG2 GABRA1 CHRNA4
48 autism spectrum disorder 32.1 SCN1A RELN GABRG2 CLN8 CHRNA4
49 hemiplegia 31.9 SLC2A1 SCN1A ATP1A3
50 scn1a seizure disorders 31.7 SCN1B SCN1A

Graphical network of the top 20 diseases related to Epilepsy:



Diseases related to Epilepsy
Sources

Symptoms & Phenotypes for Epilepsy

About this section

UMLS symptoms related to Epilepsy:


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

GenomeRNAi Phenotypes related to Epilepsy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-2 10.22 GABRA1
2 Decreased viability GR00221-A-4 10.22 GABRA1
3 Decreased viability GR00381-A-1 10.22 CSTB
4 Decreased viability GR00402-S-2 10.22 ATP1A3 CACNB4 CHRNA4 CHRNB2 CLN8 CSTB
5 no effect GR00402-S-1 9.96 ATP1A3 CACNB4 CHRNA4 CHRNB2 CLN8 CSTB
6 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.23 CACNB4 CSTB EFHC1 GABRA1 NHLRC1 RELN

MGI Mouse Phenotypes related to Epilepsy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.36 ATP1A3 CACNB4 CHRNA4 CHRNB2 CLN8 CSTB
2 growth/size/body region MP:0005378 10.27 ATP1A3 CACNB4 CHRNB2 CSTB EPM2A GABRA1
3 mortality/aging MP:0010768 10.22 ATP1A3 CACNB4 CHRNA4 CHRNB2 CLN8 EPM2A
4 nervous system MP:0003631 10.13 ATP1A3 CACNB4 CHRNA4 CHRNB2 CLN8 CSTB
5 muscle MP:0005369 9.96 ATP1A3 CACNB4 CHRNB2 CSTB EFHC1 EPM2A
6 no phenotypic analysis MP:0003012 9.5 CHRNA4 CSTB GABRA1 NHLRC1 SCN1B SLC2A1
7 vision/eye MP:0005391 9.28 CACNB4 CHRNB2 CLN8 CSTB LGI1 RELN
Sources

Drugs & Therapeutics for Epilepsy

About this section

PubMed Health treatment related to Epilepsy: 62

The most suitable kind of treatment for a specific person will depend on the type of epilepsy they have and the course of their disease so far. Epilepsy is usually treated with medication known as anti-epileptic drugs (AEDs). These include various medications from different groups of drugs. If a certain medication doesn’t work when a low dose is used, the dose can be increased. If it still doesn’t work, a medication from a different group of drugs can be tried out or several medications can be used together. Seizures are often one-off events so no treatment is needed at first. People usually only start treatment if they have a second seizure . But certain people, for instance those with a brain disease, are more likely to have further seizures. In those cases it might be a good idea to start treatment after the first seizure. This will greatly depend on the person’s individual situation. It is important to discuss all the options with your doctor. People who decide to take medication usually take it for many years. Some people can try to stop taking medication after a while if they have not had any seizures for several years. Others have to take medication for the rest of their lives. If seizures can’t be prevented with medication, a surgical procedure may be considered. The options include: Brain surgery : If someone has partial seizures and it is clear which part of the brain is triggering them, that part of the brain can be surgically removed. But this is not always possible. Vagus nerve stimulation: In this procedure, a pacemaker -like device is implanted under the skin of your chest , where it produces electrical signals. It is connected to the vagus nerve in your neck and is meant to prevent the nerve cells from being too active. The treatment is overseen by a neurologist . Children and teenagers with epilepsy will see a pediatric neurologist. Some of the diagnostic tests and treatments are often carried out in a hospital. There are outpatient facilities and clinics that specialize in treatments for people with epilepsy (e.g. epilepsy centers, specialized hospital departments or doctors’ practices). These are particularly suitable if you have a specific problem, if the diagnosis is not clear, or if you keep on having seizures despite treatment. When people with epilepsy have seizures they do not usually need treatment . The most important thing that helpers can do is stay calm and prevent injury . If the seizure lasts longer than five minutes or if several seizures occur within a short space of time, the emergency services should be informed (e.g. by calling 112 in Germany and most European countries, or 911 in the U.S.). Severe epileptic seizures may require a hospital stay.

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

(show top 50) (show all 538)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Stiripentol Approved Phase 4 49763-96-4
2
Ethosuximide Approved Phase 4 77-67-8 3291
3
Felbamate Approved Phase 4 25451-15-4 3331
4
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
5
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
6
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
7
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
8
Levetiracetam Approved Phase 4 102767-28-2 441341
9
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
10
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
11
Ivermectin Approved, Investigational, Vet_approved Phase 4 70288-86-7 6474909
12
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
13
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
14
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
15
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
16
Bupropion Approved Phase 4 34911-55-2, 34841-39-9 444
17
Norepinephrine Approved Phase 4 51-41-2 439260
18
Hydralazine Approved Phase 4 86-54-4 3637
19
Clevidipine Approved, Investigational Phase 4 167221-71-8
20
Labetalol Approved Phase 4 36894-69-6 3869
21
Morphine Approved, Investigational Phase 4 57-27-2 5288826
22
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
23
Nicotine Approved Phase 4 54-11-5 942 89594
24
Guanfacine Approved, Investigational Phase 4 29110-47-2 3519
25
Clonidine Approved Phase 4 4205-90-7 2803
26
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
27
Histamine Approved, Investigational Phase 4 51-45-6 774
28
gamma-Aminobutyric acid Approved, Investigational Phase 4 56-12-2 119
29
Desogestrel Approved Phase 4 54024-22-5 40973
30
Etonogestrel Approved, Investigational Phase 4 54048-10-1 40976 6917715
31
Remifentanil Approved Phase 4 132875-61-7 60815
32
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
33
Tapentadol Approved Phase 4 175591-23-8 9838022
34
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
35
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
36
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
37
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
38
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
39
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
40 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
41
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
42
Memantine Approved, Investigational Phase 4 19982-08-2 4054
43
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
44
Rotigotine Approved Phase 4 99755-59-6, 92206-54-7 57537
45
Propranolol Approved, Investigational Phase 4 525-66-6 4946
46
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
47
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
48
Rizatriptan Approved Phase 4 144034-80-0, 145202-66-0 5078
49
Donepezil Approved Phase 4 120014-06-4 3152
50
Amitriptyline Approved Phase 4 50-48-6 2160

Interventional clinical trials:

(show top 50) (show all 1746)
# Name Status NCT ID Phase Drugs
1 Prospective Open Label Evaluation of Clobazam Adjunctive Treatment of Adults With Refractory Focal Epilepsy: A Pilot Study Unknown status NCT02726919 Phase 4 Clobazam
2 Immunotherapy in Intractable Cryptogenic Epilepsy Patients With Autoimmune Antibody Unknown status NCT02695797 Phase 4 Prednisolone
3 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)
4 The Impact of Reducing Overtreatment on Quality of Life in Children With Refractory Epilepsy Unknown status NCT00647322 Phase 4
5 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
6 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
7 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
8 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
9 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
10 Relationship Between Topiramate Use and Ocular Angle Status: A Prospective Pilot Study Unknown status NCT00153699 Phase 4 Topiramate
11 Effects of Perampanel on Cognition and Electroencephalography in Patients With Epilepsy Unknown status NCT02900755 Phase 4 Perampanel
12 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
13 Levetiracetam Treatment of Children With Subclinical Sleep-Activated Epileptiform Activity (SSEA) - a Placebo Controlled Double-blind Cross-over-study Unknown status NCT00393614 Phase 4 levetiracetam
14 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
15 Comparison of Oral 30 % Dextrose and iv Midazolam Sedation During MRI in Neonates Unknown status NCT02645279 Phase 4 IV midazolam
16 The Effect of Central Insulin on Insulin Sensitivity and Energy Metabolism Unknown status NCT01479075 Phase 4 intransal insulin;Placebo
17 A Randomized Controlled Trial of Generic Substitution of Antiepileptic Drugs Unknown status NCT02429596 Phase 4 Experimental
18 Effect of Bispectral Index (BIS) Monitoring on Faster Recovery Time and Analgesic Consumption in Abdominal Surgery Patients Unknown status NCT01470898 Phase 4
19 Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Unknown status NCT01098383 Phase 4 Acetyl-Choline Esterase Inhibitors and Choline supplements;Indistinguishable placebo tablets, matching both donepezil and choline
20 Evaluation Whether Higher Retention Rate is in Those of Combined Methadone With N-Acetyl-Cysteine Compared to Those With Methadone Alone During a Six-month Study Unknown status NCT01047956 Phase 4 Methadone; NAC;Methadone
21 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
22 9-11 Week Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel Study to Determine Effects of Adjunctive Levetiracetam on Sleep Architecture of Adults With Partial Onset Epilepsy Receiving a First Generation Anti-epileptic Drug. Completed NCT00245713 Phase 4 levetiracetam
23 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
24 A Multicenter Comparative Trial of Zonisamide and Topiramate as Initial Monotherapy in Untreated Epilepsies Completed NCT00154076 Phase 4 Zonisamide;Topiramate
25 A Phase IV, Open-label, Multi-center, Community-based Trial Studying the Safety and Efficacy of Keppra™ as Adjunctive Therapy in Adult Subjects With Uncontrolled Partial Epilepsy. Completed NCT00160654 Phase 4 Levetiracetam
26 A Phase IV, Open-label, Multi-center Trial to Evaluate the Safety and Efficacy of Keppra® After Conversion to Mono-therapy in Adult Subjects With Partial Epilepsy Completed NCT00630357 Phase 4 Levetiracetam (Keppra)
27 An Open Label, Randomized, Multicenter Clinical Trial to Compare the Efficacy and Safety of Lamotrigine / Valproate Coadministration and Carbamazepine as Initial Pharmacotherapy in Epilepsies (Phase Ⅳ) Completed NCT00807989 Phase 4 Carbamazepine;Lamotrigine/Valproate
28 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
29 An Open, Randomized, Multicenter Comparative Clinical Trial of Lamotrigine or Carbamazepine for Cognitive Function as Initial Monotherapy in Adult Untreated Epilepsies Completed NCT00896987 Phase 4 lamotrigine (Lamictal);Carbamazepine (Tegretol)
30 Pharmacovigilance Study of Keppra. SPAIN - SKATE : Safety of Keppra as Adjunctive Therapy in Epilepsy Completed NCT00643500 Phase 4 Levetiracetam
31 A Randomized, Single-dose, Parallel-group Study to Evaluate the Pharmacokinetic Profiles of Two Formulation of Pregabalin in Healthy Volunteers Under Fasting Conditions Completed NCT03712475 Phase 4 Pregabalin
32 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
33 Liceo Study: A Prospective, Observational Study On The Effectiveness Of New Antiepileptic Drugs As First Bitherapy In The Daily Clinical Practice Completed NCT00855738 Phase 4 Gabapentin, Lamotrigine, Levetiracetam, Pregabalin, Oxcarbacepine, Tiagabine, Topiramate, Zonisamide
34 A Multicenter, Open Label Study to Evaluate the Tolerability, Safety and Efficacy of Lacosamide (200mg - 400mg/Day) as add-on Therapy for Patients With Partial Onset Epilepsy Using a Flexible Dose-escalation Schedule and Individualized Maintenance Doses Completed NCT01235403 Phase 4 Lacosamide
35 A Korean Open-label, Multi-center, Community-based Trial Assessing the Efficacy and Safety of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy Completed NCT01140867 Phase 4 zonisamide
36 An Open-Label, Multicenter, Multinational Study of Lacosamide as First Add-On Anti-epileptic Drug (AED) Treatment in Subjects With Partial-Onset Seizures Completed NCT00955357 Phase 4 Lacosamide
37 A Multi-Center, Open-label, Randomized Study to Evaluate the Long Term Effectiveness of Levetiracetam as Monotherapy in Comparison With Oxcarbazepine in Subjects With Newly or Recently Diagnosed Partial Epilepsy Completed NCT01498822 Phase 4 Levetiracetam;Oxcarbazepine
38 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
39 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
40 A Multicentre, Double-blind, Randomized, Phase IV Clinical Trial Comparing the Safety, Tolerability and Efficacy of Levetiracetam Versus Lamotrigine and Carbamazepine in the Oral Antiepileptic Therapy of Newly Diagnosed Elderly Patients With Focal Epilepsy. Completed NCT00438451 Phase 4 Levetiracetam;Carbamazepine;Lamotrigine
41 Searching for "Sleep Friendly" Therapies for a Sleepy Population: A Double-Blind, Placebo-Controlled, Randomized Trial to Assess the Effects of Lacosamide on Sleep and Wake in Adults With Focal Epilepsy Completed NCT01190098 Phase 4 Lacosamide;Placebo
42 RCT of the Efficacy of the Ketogenic Diet in the Treatment of Epilepsy Completed NCT00564915 Phase 4
43 A Multicenter, Open-Label Conversion of Valproate Monotherapy to Lamotrigine Monotherapy in Patients With Epilepsy Completed NCT00043914 Phase 4 lamotrigine
44 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
45 Transcranial Direct Current Stimulation for Treatment of Childhood Pharmacoresistant Lennox-Gastaut Syndrome, A Pilot Study Completed NCT02731300 Phase 4
46 Efficacy of Levetiracetam for Language Dysfunction Associated With Benign Epilepsy With Centrotemporal Spikes Completed NCT00181116 Phase 4 Levetiracetam
47 A Multi-center Comparative Trial of Low and High Dose Zonisamide in Children as Monotherapy Completed NCT01127165 Phase 4 zonisamide low dose group;zonisamide high dose group
48 A Phase IV-Pharmacovigilance Study of Keppra Greece - S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy Completed NCT00631150 Phase 4 Levetiracetam (Keppra)
49 Trial Studying the Safety and Efficacy of Keppra® as Adjunctive Therapy in Adult Patients With Uncontrolled Partial Epilepsy Completed NCT00630968 Phase 4 Levetiracetam (Keppra)
50 Evaluation of Bioequivalence of Lamotrigine Tablets in Epileptic Patients Completed NCT01995825 Phase 4 lamotrigine

Search NIH Clinical Center for Epilepsy

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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

Cochrane evidence based reviews: epilepsy

Sources

Genetic Tests for Epilepsy

About this section

Genetic tests related to Epilepsy:

# Genetic test Affiliating Genes
1 Epilepsy 29
Sources

Anatomical Context for Epilepsy

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MalaCards organs/tissues related to Epilepsy:

40
Temporal Lobe, Brain, Testes, Cortex, Bone, Heart, Amygdala
Sources

Publications for Epilepsy

About this section

Articles related to Epilepsy:

(show top 50) (show all 31369)
# Title Authors PMID Year
1
Practical aspects of childhood epilepsy. 61 42
31712327 2019
2
Effectiveness and safety of perampanel in adults with mesial temporal epilepsy: A single-center postmarketing study in Taiwan. 61 42
31626082 2019
3
Epileptiform EEG discharges and sevoflurane in children: Protocol of a systematic review and meta-analysis. 42
31577750 2019
4
NaV1.1 channels and epilepsy. 54 61
20194124 2010
5
Epilepsy and the natural history of Rett syndrome. 54 61
20231667 2010
6
Intracellular aggregation of human stefin B: confocal and electron microscopy study. 54 61
20078424 2010
7
Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutation. 54 61
20071244 2010
8
Reelin deficiency causes granule cell dispersion in epilepsy. 54 61
19633980 2010
9
Doublecortin expression in focal cortical dysplasia in epilepsy. 54 61
19583780 2009
10
Therapeutic epilepsy research: from pharmacological rationale to focal adenosine augmentation. 54 61
19682439 2009
11
Dynamic up-regulation of prodynorphin transcription in temporal lobe epilepsy. 54 61
19437412 2009
12
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. 54 61
19734009 2009
13
The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. 54 61
19577488 2009
14
The mechanisms of medically refractory temporal lobe epilepsy. 54 61
19960958 2009
15
Metabolic epilepsies: approaches to a diagnostic challenge. 54 61
19760908 2009
16
Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations. 54 61
19666879 2009
17
Epilepsy in glioblastoma multiforme: correlation with glutamine synthetase levels. 54 61
19183851 2009
18
PET and SPECT in epilepsy: a critical review. 54 61
19236949 2009
19
Gene-wide tagging study of association between ABCB1 polymorphisms and multidrug resistance in epilepsy in Han Chinese. 54 61
19450124 2009
20
Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? 54 61
19203856 2009
21
Exogenous reelin prevents granule cell dispersion in experimental epilepsy. 54 61
19185570 2009
22
Haploinsufficiency of glutamine synthetase increases susceptibility to experimental febrile seizures. 54 61
19170755 2009
23
Nestin in the temporal neocortex of the intractable epilepsy patients. 54 61
18719994 2009
24
Cyclooxygenase in epilepsy: from perception to application. 54 61
19343233 2009
25
P-gp expression in epilepsy. 54 61
19125837 2009
26
Changes in sex steroid levels in women with epilepsy on treatment: relationship with antiepileptic therapies and seizure frequency. 54 61
19125844 2009
27
Fragile X syndrome and epilepsy. 54 61
18839028 2008
28
Epilepsy surgery and tuberous sclerosis complex: special considerations. 54 61
18759614 2008
29
Migraine and epilepsy: genetically linked? 54 61
18759542 2008
30
Association between SCN1A polymorphism and carbamazepine-resistant epilepsy. 54 61
18489610 2008
31
KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. 54 61
18625963 2008
32
GLUT1 deficiency without epilepsy: yet another case. 54 61
18403583 2008
33
Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization. 54 61
18483067 2008
34
The three stages of epilepsy in patients with CDKL5 mutations. 54 61
18266744 2008
35
P-glycoprotein--a clinical target in drug-refractory epilepsy? 54 61
18314494 2008
36
Epilepsy as part of the phenotype associated with ATP1A2 mutations. 54 61
18028407 2008
37
[Autism, epilepsy and genetics]. 54 61
18302128 2008
38
GEFS+ where focal seizures evolve from generalized spike wave: video-EEG study of two children. 54 61
17884755 2007
39
Extracellular signal-regulated protein kinase in human intractable epilepsy. 54 61
17662006 2007
40
Epilepsy surgery in tuberous sclerosis: the Dutch experience. 54 61
17412615 2007
41
Association of human herpesvirus-6B with mesial temporal lobe epilepsy. 54 61
17535102 2007
42
Tuberous sclerosis complex and epilepsy: recent developments and future challenges. 54 61
17386056 2007
43
Gene therapy in epilepsy: the focus on NPY. 54 61
17196301 2007
44
ABC transporters during epilepsy and mechanisms underlying multidrug resistance in refractory epilepsy. 54 61
17910594 2007
45
Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. 54 61
17020904 2007
46
Adenosine kinase, epilepsy and stroke: mechanisms and therapies. 54 61
17056128 2006
47
Role of genetics in the diagnosis and treatment of epilepsy. 54 61
17181426 2006
48
Impaired inactivation gate stabilization predicts increased persistent current for an epilepsy-associated SCN1A mutation. 54 61
17065438 2006
49
The multidrug transporter hypothesis of drug resistance in epilepsy: Proof-of-principle in a rat model of temporal lobe epilepsy. 54 61
16928449 2006
50
Familial occurrence of febrile seizures and epilepsy in severe myoclonic epilepsy of infancy (SMEI) patients with SCN1A mutations. 54 61
17054684 2006
Sources

Variations for Epilepsy

About this section

ClinVar genetic disease variations for Epilepsy:

6 (show top 50) (show all 205) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC2A1 NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter)SNV Pathogenic 207196 rs80359826 1:43394689-43394689 1:42929018-42929018
2 ACR , ARSA , MAPK8IP2 , RABL2B , SHANK3 deletion Pathogenic 223117 22:51027581-51234443
3 subset of 36 genes: SHANK3 deletion Pathogenic 223119 22:49033233-51193680
4 TSHR NM_000369.2(TSHR):c.122G>C (p.Cys41Ser)SNV Pathogenic 6442 rs121908869 14:81422146-81422146 14:80955802-80955802
5 ATP1A3 NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg)SNV Pathogenic 37110 rs398122887 19:42471896-42471896 19:41967744-41967744
6 OTUD6B NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter)SNV Pathogenic 375701 rs368313959 8:92090611-92090611 8:91078383-91078383
7 OTUD6B NM_016023.5(OTUD6B):c.379_383del (p.Leu127fs)deletion Pathogenic 375702 rs759317757 8:92090644-92090648 8:91078416-91078420
8 OTUD6B NM_016023.5(OTUD6B):c.83-2A>GSNV Pathogenic 375703 rs1064797102 8:92083364-92083364 8:91071136-91071136
9 CSRNP3 , GALNT3 , SCN2A , SCN3A deletion Pathogenic 635920 2:166050817-166679227
10 TTC21B NC_000002.11:g.166679228_166818452invinversion Pathogenic 635921 2:166679228-166818452
11 SCN1A deletion Pathogenic 635922 2:166818453-166939516
12 SCN8A NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg)SNV Pathogenic/Likely pathogenic 207119 rs796053216 12:52184185-52184185 12:51790401-51790401
13 CHRNA7 , FAN1 , KLF13 , MIR211 , MTMR10 , OTUD7A , TRPM1 deletion Likely pathogenic 223109 15:30941572-32509926
14 OTUD6B NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys)SNV Likely pathogenic 375704 rs1064797103 8:92090825-92090825 8:91078597-91078597
15 MT-CO3 NC_012920.1:m.9237G>ASNV Likely pathogenic 370052 rs1057516064 MT:9237-9237 MT:9237-9237
16 GRIN2B NM_000834.4(GRIN2B):c.2116A>G (p.Met706Val)SNV Likely pathogenic 374226 rs1057518988 12:13724793-13724793 12:13571859-13571859
17 WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile)SNV Likely pathogenic 440948 rs1554823375 10:1126394-1126394 10:1080454-1080454
18 ATP1A2 NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs)deletion Likely pathogenic 562228 rs1558008455 1:160105074-160105075 1:160135284-160135285
19 ATP1A2 NM_000702.4(ATP1A2):c.835del (p.Arg279fs)deletion Likely pathogenic 586989 rs1558005340 1:160097428-160097428 1:160127638-160127638
20 UBE4A NM_001204077.2(UBE4A):c.1185_1186del (p.Lys396fs)deletion Likely pathogenic 617553 rs1565532385 11:118245679-118245680 11:118374964-118374965
21 KMT2E NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs)deletion Likely pathogenic 617565 rs1562927768 7:104741923-104741927 7:105101476-105101480
22 NR4A2 NM_006186.4(NR4A2):c.327dup (p.Ser110fs)duplication Likely pathogenic 545565 rs1553456695 2:157186371-157186372 2:156329859-156329860
23 WDR37 NM_014023.4(WDR37):c.356C>T (p.Ser119Phe)SNV Likely pathogenic 633617 10:1126376-1126376 10:1080436-1080436
24 WDR37 NM_014023.4(WDR37):c.386C>G (p.Ser129Cys)SNV Likely pathogenic 633616 10:1126406-1126406 10:1080466-1080466
25 WDR37 NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)SNV Likely pathogenic 633618 10:1126409-1126409 10:1080469-1080469
26 SETD1B NM_001353345.1(SETD1B):c.1526_1527del (p.Glu509fs)deletion Likely pathogenic 692025 12:122248376-122248377 12:121810470-121810471
27 ATP1A2 NM_000702.4(ATP1A2):c.3027T>A (p.Tyr1009Ter)SNV Likely pathogenic 692197 1:160109767-160109767 1:160139977-160139977
28 PIGQ NM_004204.4(PIGQ):c.968_969del (p.Leu323fs)deletion Conflicting interpretations of pathogenicity 520669 rs747661902 16:628404-628405 16:578404-578405
29 PIGQ NM_004204.4(PIGQ):c.942+1G>ASNV Conflicting interpretations of pathogenicity 453003 rs200661329 16:626255-626255 16:576255-576255
30 IER3IP1 NM_016097.5(IER3IP1):c.*58T>CSNV Conflicting interpretations of pathogenicity 433137 rs150586939 18:44682490-44682490 18:47156119-47156119
31 CPA6 NM_020361.5(CPA6):c.931C>T (p.Arg311Ter)SNV Conflicting interpretations of pathogenicity 434821 rs139145929 8:68346383-68346383 8:67434148-67434148
32 SCN1A NM_006920.6(SCN1A):c.1410C>T (p.Ser470=)SNV Conflicting interpretations of pathogenicity 212117 rs142571794 2:166901805-166901805 2:166045295-166045295
33 SCN1A NM_006920.6(SCN1A):c.1000C>G (p.Leu334Val)SNV Conflicting interpretations of pathogenicity 206934 rs201870762 2:166905424-166905424 2:166048914-166048914
34 SCN1A NM_006920.6(SCN1A):c.3488C>G (p.Thr1163Ser)SNV Conflicting interpretations of pathogenicity 68616 rs121918799 2:166872146-166872146 2:166015636-166015636
35 SCN1A NM_006920.6(SCN1A):c.1131A>C (p.Arg377=)SNV Conflicting interpretations of pathogenicity 93626 rs114137271 2:166904176-166904176 2:166047666-166047666
36 SCN1A NM_006920.6(SCN1A):c.4698T>C (p.Asn1566=)SNV Conflicting interpretations of pathogenicity 93655 rs145296488 2:166850777-166850777 2:165994267-165994267
37 SCN1A NM_006920.6(SCN1A):c.333A>G (p.Leu111=)SNV Conflicting interpretations of pathogenicity 138971 rs201592683 2:166915130-166915130 2:166058620-166058620
38 SCN1A NM_006920.6(SCN1A):c.2143+11A>CSNV Conflicting interpretations of pathogenicity 331891 rs201604887 2:166898791-166898791 2:166042281-166042281
39 SCN1A NM_006920.6(SCN1A):c.4548+12C>TSNV Conflicting interpretations of pathogenicity 331882 rs886055042 2:166852511-166852511 2:165996001-165996001
40 SCN1A NM_006920.6(SCN1A):c.3540T>C (p.Cys1180=)SNV Conflicting interpretations of pathogenicity 331885 rs750943685 2:166870386-166870386 2:166013876-166013876
41 SCN1A NM_006920.6(SCN1A):c.2426T>C (p.Ile809Thr)SNV Uncertain significance 331888 rs886055045 2:166896063-166896063 2:166039553-166039553
42 SCN1A NM_006920.6(SCN1A):c.2011-14A>TSNV Uncertain significance 331893 rs537722606 2:166898948-166898948 2:166042438-166042438
43 MT-ND4 NC_012920.1:m.11815C>GSNV Uncertain significance 370053 rs879025367 MT:11815-11815 MT:11815-11815
44 MT-ND4 NC_012920.1:m.12013A>GSNV Uncertain significance 370056 rs1057516067 MT:12013-12013 MT:12013-12013
45 MT-ND4 NC_012920.1:m.12018C>GSNV Uncertain significance 370057 rs1057516068 MT:12018-12018 MT:12018-12018
46 MT-CYB NC_012920.1:m.15060G>ASNV Uncertain significance 370062 rs1057516072 MT:15060-15060 MT:15060-15060
47 MT-TV NC_012920.1:m.1655A>GSNV Uncertain significance 370044 rs1057516056 MT:1655-1655 MT:1655-1655
48 MT-TV NC_012920.1:m.1661A>GSNV Uncertain significance 370043 rs1057516055 MT:1661-1661 MT:1661-1661
49 MT-ND2 NC_012920.1:m.4664C>TSNV Uncertain significance 370047 rs1057516059 MT:4664-4664 MT:4664-4664
50 SCN1A NM_006920.6(SCN1A):c.3847-10G>CSNV Uncertain significance 331884 rs886055043 2:166866361-166866361 2:166009851-166009851

Copy number variations for Epilepsy from CNVD:

7 (show top 50) (show all 613)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13367 1 1 16700000 Deletion Epilepsy
2 17286 1 142400000 148000000 Deletion Epilepsy
3 17377 1 142600000 147000000 Deletion Epilepsy
4 18328 1 145000000 145900000 Deletion GJA8 Epilepsy
5 33187 1 43391045 43424847 Deletion SLC2A1 Epilepsy
6 36112 1 72040000 72150000 Deletion NEGR1 Epilepsy
7 41452 10 18271821 21110683 Deletion Epilepsy
8 43051 10 43288081 55324785 Duplication Epilepsy
9 43386 10 46384979 51265056 Duplication Epilepsy
10 43763 10 49062854 52062367 Duplication Epilepsy
11 44157