MCID: EPL164
MIFTS: 71

Epilepsy

Categories: Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Epilepsy

MalaCards integrated aliases for Epilepsy:

Name: Epilepsy 11 52 75 28 53 5 41 2 43 14 63 38 16 71 31
Epilepsy Syndrome 11 58 5
Epilepsy Due to Neuronal Migration Disorders 33
Epilepsy Due to Hippocampal Sclerosis 33
Epilepsy with Ammon's Horn Sclerosis 33
Epilepsy Due to Cortical Dysplasia 33
Post Traumatic Epilepsy 33
Symptomatic Epilepsies 33
Traumatic Epileptic 33
Epileptic Syndrome 11
Traumatic Epilepsy 33
Epilepsies 14

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Epilepsy

NINDS: 52 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 childhood absence epilepsy, and has symptoms including tremor, back pain and headache. An important gene associated with Epilepsy 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 Acetazolamide and Rituximab have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and thalamus, and related phenotypes are nervous system and growth/size/body region

PubMed Health : 63 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.

MedlinePlus: 41 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

Disease Ontology: 11 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.

CDC: 2 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: 75 Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic... more...

Related Diseases for Epilepsy

Diseases in the Epilepsy family:

Benign Familial Infantile Epilepsy Autoimmune 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 3182)
# Related Disease Score Top Affiliating Genes
1 epilepsy, myoclonic juvenile 34.1 SLC2A1 SCN8A SCN1A NHLRC1 LGI1 KCNT1
2 childhood absence epilepsy 34.0 SLC2A1 SCN8A SCN1A NHLRC1 LGI1 KCNT1
3 benign epilepsy with centrotemporal spikes 33.9 WWOX SLC2A1 SCN8A SCN1A LGI1 KCNT1
4 epilepsy, idiopathic generalized 33.8 SLC2A1 SCN8A SCN1A LGI1 KCNT1 GRIN2A
5 dravet syndrome 33.8 SLC2A1 SCN8A SCN1A LGI1 KCNT1 GRIN2B
6 early myoclonic encephalopathy 33.7 SLC2A1 SCN8A SCN1A NHLRC1 LGI1 KCNT1
7 generalized epilepsy with febrile seizures plus 33.7 SCN8A SCN1A LGI1 KCNT1 GRIN2A DEPDC5
8 autosomal dominant nocturnal frontal lobe epilepsy 33.7 SCN8A SCN1A LGI1 KCNT1 GRIN2A DEPDC5
9 focal epilepsy 33.7 SCN8A SCN1A LGI1 KCNT1 GRIN2A DEPDC5
10 epilepsy, pyridoxine-dependent 33.5 SLC2A1 SCN8A SCN1A KCNT1
11 epilepsy, familial temporal lobe, 1 33.4 SCN1A LGI1 DEPDC5
12 myoclonic epilepsy of lafora 33.4 SCN1A NHLRC1 EPM2A
13 photosensitive epilepsy 33.4 SCN1A NHLRC1 LGI1 KCNT1
14 unverricht-lundborg syndrome 33.3 SCN1A NHLRC1 EPM2A
15 epilepsy with myoclonic-atonic seizures 33.3 SLC2A1 SCN1A
16 developmental and epileptic encephalopathy 14 33.2 SCN8A SCN1A KCNT1 DEPDC5
17 benign familial infantile epilepsy 33.2 SLC2A1 SCN8A SCN1A KCNT1 DEPDC5 ATP1A3
18 epilepsy, focal, with speech disorder and with or without impaired intellectual development 33.2 GRIN2A DEPDC5
19 lennox-gastaut syndrome 33.2 SLC2A1 SCN8A SCN1A KCNT1 GRIN2B GRIN2A
20 progressive myoclonus epilepsy 33.2 SCN8A SCN1A NHLRC1 KCNT1 EPM2A CLN8
21 benign neonatal seizures 33.1 SCN8A SCN1A KCNT1
22 reflex epilepsy 33.1 SCN1A LGI1
23 epilepsy, familial temporal lobe, 7 33.1 LGI1 DEPDC5 CPA6
24 benign familial neonatal epilepsy 33.1 SCN8A SCN1A KCNT1
25 west syndrome 33.1 WWOX SLC2A1 SCN8A SCN1A PIGQ LGI1
26 status epilepticus 33.1 SCN1A NHLRC1 LGI1 GRIN2B
27 developmental and epileptic encephalopathy 1 33.0 WWOX SLC2A1 SCN8A SCN1A
28 generalized epilepsy with febrile seizures plus, type 7 33.0 SCN1A KCNT1
29 progressive myoclonus epilepsy 6 33.0 NHLRC1 EPM2A
30 autosomal dominant epilepsy with auditory features 32.9 LGI1 DEPDC5
31 partial motor epilepsy 32.9 SCN8A SCN1A LGI1 KCNT1 DEPDC5
32 epilepsy, familial temporal lobe, 5 32.9 SCN1A CPA6
33 epilepsy, familial temporal lobe, 3 32.8 LGI1 DEPDC5
34 epilepsy with generalized tonic-clonic seizures 32.8 WWOX SCN8A SCN1A
35 myoclonus 32.8 SLC2A1 SCN8A NHLRC1 EPM2A
36 progressive myoclonus epilepsy 10 32.6 NHLRC1 EPM2A
37 progressive myoclonus epilepsy 4 32.6 NHLRC1 EPM2A
38 febrile seizures, familial, 11 32.6 SCN1A CPA6
39 febrile seizures 32.6 SCN8A SCN1A CPA6
40 developmental and epileptic encephalopathy 13 32.6 SCN8A SCN1A
41 migraine with or without aura 1 32.5 SCN8A SCN1A GRIN2B GRIN2A ATP1A3
42 early onset absence epilepsy 32.5 SLC2A1 SCN1A DEPDC5
43 landau-kleffner syndrome 32.4 SCN1A GRIN2B GRIN2A
44 autism 32.4 SCN8A SCN1A NBEA GRIN2B GRIN2A DEPDC5
45 nervous system disease 32.4 WWOX SLC2A1 SCN8A SCN1A LGI1 GRIN2B
46 developmental and epileptic encephalopathy 2 32.2 SCN8A SCN1A KCNT1
47 developmental and epileptic encephalopathy 32.1 WWOX SLC2A1 SCN8A SCN1A LGI1 KCNT1
48 developmental and epileptic encephalopathy 7 32.1 SCN1A KCNT1
49 familial hemiplegic migraine 32.0 SCN8A SCN1A ATP1A3
50 early infantile epileptic encephalopathy 32.0 WWOX SLC2A1 SCN8A SCN1A PIGQ KCNT1

Graphical network of the top 20 diseases related to Epilepsy:



Diseases related to Epilepsy

Symptoms & Phenotypes for Epilepsy

UMLS symptoms related to Epilepsy:


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

MGI Mouse Phenotypes related to Epilepsy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.19 ATP1A3 CLN8 DEPDC5 EPM2A GRIN2A GRIN2B
2 growth/size/body region MP:0005378 10.03 ATP1A3 CLN8 DEPDC5 EPM2A GRIN2B LGI1
3 behavior/neurological MP:0005386 9.8 ATP1A3 CLN8 DEPDC5 EPM2A GRIN2A GRIN2B
4 mortality/aging MP:0010768 9.53 ATP1A3 CLN8 DEPDC5 EPM2A GRIN2B KCNT1

Drugs & Therapeutics for Epilepsy

PubMed Health treatment related to Epilepsy: 63

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 409)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 4 59-66-5, 1424-27-7 1986
2
Rituximab Approved Phase 4 174722-31-7
3
Copper Approved, Investigational Phase 4 7440-50-8 27099
4
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715
5
Milnacipran Approved, Investigational Phase 4 92623-85-3, 96847-54-0 11622909 65833 6917779
6
Norepinephrine Approved Phase 4 51-41-2 439260
7
Levetiracetam Approved Phase 4 102767-28-2 441341 5284583
8
Eslicarbazepine acetate Approved Phase 4 236395-14-5 179344
9
Oxcarbazepine Approved Phase 4 28721-07-5 34312
10
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
11
Ivermectin Approved, Investigational, Vet_approved Phase 4 70288-86-7 9812710 6427057
12
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
13
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
14
Tocopherol Approved, Investigational Phase 4 1406-66-2
15
Levonorgestrel Approved, Investigational Phase 4 797-63-7 13109
16
Risedronic acid Approved, Investigational Phase 4 105462-24-6 5245
17
Labetalol Approved Phase 4 36894-69-6 3869
18
Hydralazine Approved Phase 4 86-54-4 3637
19
Clevidipine Approved, Investigational Phase 4 167221-71-8 153994
20
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
21
Glycopyrronium Approved, Investigational, Vet_approved Phase 4 596-51-0, 740028-90-4 3494
22
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
23
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
24
Histamine Approved, Investigational Phase 4 51-45-6 774
25
Dexmedetomidine Approved, Experimental, Vet_approved Phase 4 86347-14-0, 113775-47-6 68602 5311068
26
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
27
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
28
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
29
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
30
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
31
Memantine Approved, Investigational Phase 4 41100-52-1, 19982-08-2 4054
32
Rotigotine Approved Phase 4 99755-59-6, 92206-54-7 57537 59227
33
Amitriptyline Approved Phase 4 50-48-6 2160
34
Rizatriptan Approved Phase 4 145202-66-0, 144034-80-0 5078
35
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
36
Duloxetine Approved Phase 4 136434-34-9, 116539-59-4 60835
37
Donepezil Approved Phase 4 120014-06-4 3152
38
Acetylsalicylic acid Approved, Vet_approved Phase 4 50-78-2 2244
39
Pramipexole Approved, Investigational Phase 4 104632-26-0, 104632-25-9, 104632-28-2 4885 119570 59868
40
Zolmitriptan Approved, Investigational Phase 4 139264-17-8 60857
41
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
42
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
43
Propranolol Approved, Investigational Phase 4 318-98-9, 525-66-6 62882 4946
44
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
45
Ezogabine Approved, Investigational Phase 4 150812-12-7 121892
46
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
47
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
48
Topiramate Approved Phase 4 97240-79-4 5284627
49
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
50
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734

Interventional clinical trials:

(show top 50) (show all 1673)
# Name Status NCT ID Phase Drugs
1 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
2 Comparison of Efficacy of Low Glycemic Index Therapy and Modified Atkins Diet Among Children With Drug Resistant Epilepsy: A Randomized Non-inferiority Trial Unknown status NCT03764956 Phase 4
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 Electroclinical Effect of Steroid in Patients With Benign Childhood Epilepsy With Centrotemporal Spikes Unknown status NCT03490487 Phase 4 conventional antiepileptic drugs;oral steroid
6 Comparative Study of Dietary and Immunological Management of Refractory Epilepsy in Children Attending Assiut Pediatric University Hospital Unknown status NCT04542629 Phase 4 RiTUXimab Injection [Rituxan]
7 Effect of Anti-epileptic Drugs on Etonogestrel-releasing Implant Pharmacokinetics in Women With Epilepsy Unknown status NCT03307863 Phase 4 Carbamazepine-Implant;Topiramate-Implant;Implant
8 Efficacy and Tolerability of Low vs. Standard Daily Doses of Antiepileptic Drugs in Newly Diagnosed, Previously Untreated Epilepsy (STANDLOW). A Multicenter, Randomized, Single-blind, Parallel-group Trial Unknown status NCT03689114 Phase 4 Low dose carbamazepine;Standard dose carbamazepine;Low dose levetiracetam;Standard dose levetiracetam;Low dose valproate;Standard dose valproate;Low dose zonisamide;Standard dose zonisamide;Low dose oxcarbazepine;Standard dose oxcarbazepine;Low dose topiramate;Standard dose topiramate;Low dose lamotrigine;Standard dose lamotrigine;Low dose gabapentin;Standard dose gabapentin
9 Prospective Open Label Evaluation of Clobazam Adjunctive Treatment of Adults With Refractory Focal Epilepsy: A Pilot Study Unknown status NCT02726919 Phase 4 Clobazam
10 International Multicenter, Double-blind, Randomized, Placebo-controlled Evaluation of the Efficacy and Safety of Lacosamide in the Treatment of Pediatric Patients With Focal Refractory Epilepsy. Unknown status NCT04144218 Phase 4 Lacosamide;Placebo oral tablet
11 Immunotherapy in Intractable Cryptogenic Epilepsy Patients With Autoimmune Antibody Unknown status NCT02695797 Phase 4 Prednisolone
12 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
13 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
14 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
15 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
16 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
17 Comparison of Oral 30 % Dextrose and iv Midazolam Sedation During MRI in Neonates Unknown status NCT02645279 Phase 4 IV midazolam
18 A Randomized Controlled Trial of Generic Substitution of Antiepileptic Drugs Unknown status NCT02429596 Phase 4 Experimental
19 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
20 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
21 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
22 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
23 Investigation of Probiotic Effect on Seizure Frequency of Adult Patients With Drug-resistant Epilepsy; A Randomized Double-blind Parallel Placebo-controlled Clinical Trial Completed NCT05160350 Phase 4 Probiotic
24 Escitalopram Treatment of Major Depression in Patients With Temporal Lobe Epilepsy. A Double-blind, Placebo-controlled Study. Completed NCT00595699 Phase 4 escitalopram;placebo
25 A Randomized, Open Label, Comparative, Multi-center Clinical Trial to Determine the Efficacy and Safety of Topiramate Comparing With Carbamazepine in Benign Rolandic Epilepsy. Completed NCT00216567 Phase 4 topamax
26 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
27 Effect of Small Changes in Plasma Valproic Acid Concentration on the Photoparoxysmal Response Completed NCT00609245 Phase 4 Valproic Acid;Placebo
28 Pharmacovigilance Study of Keppra. SPAIN - SKATE : Safety of Keppra as Adjunctive Therapy in Epilepsy Completed NCT00643500 Phase 4 Levetiracetam
29 OAETREAT Extra Ivermectin Treatment of Persons With Onchocerciasis-associated Epilepsy: a Completed NCT03852303 Phase 4 ivermectin
30 Open Flexible Dose Optimisation Trial Assessing Tolerability and Efficacy of Topiramate Monotherapy in Recently Diagnosed Patients With Epilepsy Who Are Treatment Naive or Have Failed One Anti-Epileptic Drug Treatment in Monotherapy Completed NCT01689649 Phase 4 Topiramate
31 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
32 A Multicenter, Double-blind, Placebo-controlled, Parallel Group Study of the Safety and Efficacy of Levetiracetam in the Adjunctive Treatment of Adult Female Subjects (18 to 40 Years of Age) With C1 Catamenial Epilepsy Completed NCT00630630 Phase 4 Levetiracetam
33 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)
34 Ivermectin Treatment in Patients With Onchocerciasis-associated Epilepsy: A Randomized Clinical Trial Completed NCT03052998 Phase 4 Ivermectin
35 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
36 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)
37 Trial Studying the Safety and Efficacy of Keppra® as Adjunctive Therapy in Adult Patients With Uncontrolled Partial Epilepsy Completed NCT00630968 Phase 4 Levetiracetam (Keppra)
38 Therapeutic Follow-up Observational Study and Population Kinetics Ancillary Study of Valproate Microgranules (Micropakine® SR) in Patients Aged Between 6 Months and 15 Years Suffering From Epilepsy. Completed NCT00385411 Phase 4 valproate microgranules
39 A Phase IV, Open-label, Multi-center, Community-based Trial in Asia Studying the Safety and Efficacy of Keppra™ as Adjunctive Therapy in Adult Subjects With Uncontrolled Partial Epilepsy. Completed NCT00160654 Phase 4 Levetiracetam
40 Use of Clobazam in Treating Anxiety Comorbid With Pediatric Epilepsy Completed NCT03371836 Phase 4 Clobazam
41 RCT of the Efficacy of the Ketogenic Diet in the Treatment of Epilepsy Completed NCT00564915 Phase 4
42 Efficacy of Levetiracetam for Language Dysfunction Associated With Benign Epilepsy With Centrotemporal Spikes Completed NCT00181116 Phase 4 Levetiracetam
43 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
44 A Multicenter, Open-Label Conversion of Valproate Monotherapy to Lamotrigine Monotherapy in Patients With Epilepsy Completed NCT00043914 Phase 4 lamotrigine
45 Use of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population Completed NCT00207935 Phase 4
46 Double Blind, Placebo Controlled, Crossover Study of Extended Release Methylphenidate for Treatment of ADHD in Children With Epilepsy Completed NCT00323947 Phase 4 Extended Release Methylphenidate (OROS-Methylphenidate)
47 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
48 Topiramate in the Treatment of Epilepsy: 1st Add-on vs. Mono-therapy Study in Neuro-Surgical Patients Completed NCT01627860 Phase 4 Topiramate add-on therapy;Topiramate monotherapy
49 Double-Blind, Placebo-Controlled Trial of Vitamin E as Add-on Therapy for Children With Epilepsy Completed NCT00004637 Phase 4 Vitamin E
50 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

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

Genetic Tests for Epilepsy

Genetic tests related to Epilepsy:

# Genetic test Affiliating Genes
1 Epilepsy 28

Anatomical Context for Epilepsy

Organs/tissues related to Epilepsy:

MalaCards : Brain, Temporal Lobe, Thalamus, Amygdala, Cortex, Subthalamic Nucleus, Heart

Publications for Epilepsy

Articles related to Epilepsy:

(show top 50) (show all 37494)
# Title Authors PMID Year
1
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 62 5
24463883 2014
2
A cluster-randomized trial comparing home-based primary health care and usual clinic care for epilepsy in a resource-limited country. 62 41
36213959 2022
3
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. 5
32588908 2020
4
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 5
30690204 2020
5
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. 5
31616000 2019
6
PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype. 5
31148362 2019
7
In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. 5
28027978 2017
8
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 5
25558065 2015
9
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome. 5
21984751 2012
10
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome). 5
21984749 2011
11
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. 5
19289393 2009
12
A 15q13.3 microdeletion segregating with autism. 5
19050728 2009
13
Splicing in action: assessing disease causing sequence changes. 5
16199547 2005
14
22q13 deletion syndrome. 5
11391650 2001
15
Intraoperative electrocorticography using high-frequency oscillations or spikes to tailor epilepsy surgery in the Netherlands (the HFO trial): a randomised, single-blind, adaptive non-inferiority trial. 41
36270309 2022
16
Assessment of the long-term efficacy and safety of adjunctive perampanel in adolescent patients with epilepsy: Post hoc analysis of open-label extension studies. 41
36122531 2022
17
NaV1.1 channels and epilepsy. 53 62
20194124 2010
18
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. 53 62
20156848 2010
19
Evaluation of transport of common antiepileptic drugs by human multidrug resistance-associated proteins (MRP1, 2 and 5) that are overexpressed in pharmacoresistant epilepsy. 53 62
20080116 2010
20
Mutations in GABAA receptor subunits associated with genetic epilepsies. 53 62
20308251 2010
21
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. 53 62
20351042 2010
22
Alteration in chromogranin A, obestatin and total ghrelin levels of saliva and serum in epilepsy cases. 53 62
20172008 2010
23
Augmented currents of an HCN2 variant in patients with febrile seizure syndromes. 53 62
20437590 2010
24
A nonsynonymous variation in MRP2/ABCC2 is associated with neurological adverse drug reactions of carbamazepine in patients with epilepsy. 53 62
20216337 2010
25
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. 53 62
19752159 2010
26
Intracellular aggregation of human stefin B: confocal and electron microscopy study. 53 62
20078424 2010
27
Epilepsy and the natural history of Rett syndrome. 53 62
20231667 2010
28
Expression of synaptic vesicle protein 2A in epilepsy-associated brain tumors and in the peritumoral cortex. 53 62
20167814 2010
29
Drug transporters are altered in brain, liver and kidney of rats with chronic epilepsy induced by lithium-pilocarpine. 53 62
19570321 2010
30
Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutation. 53 62
20071244 2010
31
Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy. 53 62
20133599 2010
32
Reelin deficiency causes granule cell dispersion in epilepsy. 53 62
19633980 2010
33
Doublecortin expression in focal cortical dysplasia in epilepsy. 53 62
19583780 2009
34
Localization of epileptic foci in children with intractable epilepsy secondary to multiple cortical tubers by using synthetic aperture magnetometry kurtosis. 53 62
19951036 2009
35
Therapeutic epilepsy research: from pharmacological rationale to focal adenosine augmentation. 53 62
19682439 2009
36
Advances on the genetics of mendelian idiopathic epilepsies. 53 62
19853223 2009
37
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. 53 62
19734009 2009
38
Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms. 53 62
19874387 2009
39
Dynamic up-regulation of prodynorphin transcription in temporal lobe epilepsy. 53 62
19437412 2009
40
Down-regulation synaptic vesicle protein 2A in the anterior temporal neocortex of patients with intractable epilepsy. 53 62
19757204 2009
41
Parental SCN1A mutation mosaicism in familial Dravet syndrome. 53 62
19673951 2009
42
Arrested maturation of excitatory synapses in autosomal dominant lateral temporal lobe epilepsy. 53 62
19701204 2009
43
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity. 53 62
19586930 2009
44
Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death. 53 62
20368164 2009
45
Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. 53 62
19605412 2009
46
The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. 53 62
19577488 2009
47
A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome. 53 62
19763161 2009
48
Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy. 53 62
19435586 2009
49
Positive correlation between the density of neuropeptide y positive neurons in the amygdala and parameters of self-reported anxiety and depression in mesiotemporal lobe epilepsy patients. 53 62
19482265 2009
50
The mechanisms of medically refractory temporal lobe epilepsy. 53 62
19960958 2009

Variations for Epilepsy

ClinVar genetic disease variations for Epilepsy:

5 (show top 50) (show all 563)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CEP128, TSHR NM_000369.5(TSHR):c.122G>C (p.Cys41Ser) SNV Pathogenic
6442 rs121908869 GRCh37: 14:81422146-81422146
GRCh38: 14:80955802-80955802
2 overlap with 4 genes DEL Pathogenic
635920 GRCh37: 2:166050817-166679227
GRCh38:
3 TTC21B NC_000002.11:g.166679228_166818452inv INVERS Pathogenic
635921 GRCh37: 2:166679228-166818452
GRCh38:
4 SCN1A DEL Pathogenic
635922 GRCh37: 2:166818453-166939516
GRCh38:
5 DEPDC5 NM_001242896.3(DEPDC5):c.4066del (p.Leu1356fs) DEL Pathogenic
834049 rs2093486364 GRCh37: 22:32289598-32289598
GRCh38: 22:31893612-31893612
6 NBEA NM_001385012.1(NBEA):c.4662+1G>C SNV Pathogenic
976285 rs2070957033 GRCh37: 13:35751241-35751241
GRCh38: 13:35177104-35177104
7 PIGQ NM_004204.5(PIGQ):c.91_106del (p.Val31fs) DEL Pathogenic
1369604 GRCh37: 16:624163-624178
GRCh38: 16:574163-574178
8 PIGQ NM_004204.5(PIGQ):c.551del (p.Gly184fs) DEL Pathogenic
1387773 GRCh37: 16:624623-624623
GRCh38: 16:574623-574623
9 PIGQ NM_004204.5(PIGQ):c.52_70dup (p.Val24fs) DUP Pathogenic
1416208 GRCh37: 16:624122-624123
GRCh38: 16:574122-574123
10 PIGQ NM_004204.5(PIGQ):c.1024C>T (p.Gln342Ter) SNV Pathogenic
1365801 GRCh37: 16:628460-628460
GRCh38: 16:578460-578460
11 PIGQ NM_004204.5(PIGQ):c.942+1G>C SNV Pathogenic
1457615 GRCh37: 16:626255-626255
GRCh38: 16:576255-576255
12 PIGQ NC_000016.9:g.(?_624589)_(626254_?)del DEL Pathogenic
1459251 GRCh37: 16:624589-626254
GRCh38:
13 PIGQ NM_004204.5(PIGQ):c.449del (p.Arg150fs) DEL Pathogenic
1457001 GRCh37: 16:624523-624523
GRCh38: 16:574523-574523
14 PIGQ NM_004204.5(PIGQ):c.161_174del (p.Gln54fs) DEL Pathogenic
1452468 GRCh37: 16:624235-624248
GRCh38: 16:574235-574248
15 PIGQ NM_004204.5(PIGQ):c.733_734del (p.Ser245fs) MICROSAT Pathogenic
1453534 GRCh37: 16:625879-625880
GRCh38: 16:575879-575880
16 PIGQ NC_000016.10:g.(?_578765)_(579200_?)del DEL Pathogenic
526296 GRCh37: 16:628765-629200
GRCh38: 16:578765-579200
17 PIGQ NM_004204.5(PIGQ):c.618del (p.Arg206fs) DEL Pathogenic
644371 rs1229740428 GRCh37: 16:624691-624691
GRCh38: 16:574691-574691
18 PIGQ NM_004204.5(PIGQ):c.1113G>A (p.Trp371Ter) SNV Pathogenic
642336 rs1596385588 GRCh37: 16:628828-628828
GRCh38: 16:578828-578828
19 PIGQ NM_004204.5(PIGQ):c.968_969del (p.Leu323fs) DEL Pathogenic
520669 rs747661902 GRCh37: 16:628404-628405
GRCh38: 16:578404-578405
20 PIGQ NM_004204.5(PIGQ):c.688C>T (p.Arg230Ter) SNV Pathogenic
578064 rs1206309859 GRCh37: 16:624762-624762
GRCh38: 16:574762-574762
21 PIGQ NM_004204.5(PIGQ):c.211C>T (p.Gln71Ter) SNV Pathogenic
1070292 GRCh37: 16:624285-624285
GRCh38: 16:574285-574285
22 overlap with 5 genes DEL Pathogenic
223117 GRCh37: 22:51027581-51234443
GRCh38:
23 overlap with 36 genes DEL Pathogenic
223119 GRCh37: 22:49033233-51193680
GRCh38:
24 OTUD6B NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter) SNV Pathogenic
375701 rs368313959 GRCh37: 8:92090611-92090611
GRCh38: 8:91078383-91078383
25 OTUD6B NM_016023.5(OTUD6B):c.379_383del (p.Leu127fs) DEL Pathogenic
375702 rs759317757 GRCh37: 8:92090644-92090648
GRCh38: 8:91078416-91078420
26 OTUD6B NM_016023.5(OTUD6B):c.83-2A>G SNV Pathogenic
375703 rs1064797102 GRCh37: 8:92083364-92083364
GRCh38: 8:91071136-91071136
27 overlap with 47 genes DEL Pathogenic
997809 GRCh37: 22:18889490-21463730
GRCh38:
28 overlap with 10 genes DEL Pathogenic
997817 GRCh37: 15:75596353-76103430
GRCh38:
29 overlap with 27 genes DUP Pathogenic
997818 GRCh37: 22:23699269-24992266
GRCh38:
30 overlap with 47 genes DEL Pathogenic
997822 GRCh37: 9:139764148-141066491
GRCh38:
31 PIGQ NM_004204.5(PIGQ):c.942+1G>A SNV Pathogenic
453003 rs200661329 GRCh37: 16:626255-626255
GRCh38: 16:576255-576255
32 SCN8A NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) SNV Pathogenic
253195 rs879255652 GRCh37: 12:52184209-52184209
GRCh38: 12:51790425-51790425
33 WWOX DEL Pathogenic
997824 GRCh37: 16:78149052-78420756
GRCh38:
34 overlap with 7 genes GRCh37/hg19 14q12(chr14:27450705-31529481)x3 CN GAIN Pathogenic
997966 GRCh37: 14:27450705-31529481
GRCh38:
35 PIGQ NM_004204.5(PIGQ):c.1199_1201del (p.Tyr400del) DEL Pathogenic
449630 rs766667249 GRCh37: 16:628912-628914
GRCh38: 16:578912-578914
36 ATP1A3 NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) SNV Pathogenic
37110 rs398122887 GRCh37: 19:42471896-42471896
GRCh38: 19:41967744-41967744
37 KCNT1 NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln) SNV Pathogenic
39599 rs397515407 GRCh37: 9:138657034-138657034
GRCh38: 9:135765188-135765188
38 overlap with 15 genes DEL Pathogenic
997820 GRCh37: 16:14968859-16363239
GRCh38:
39 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3 CN GAIN Pathogenic
997967 GRCh37: 22:18886915-21461017
GRCh38:
40 TANC2 NM_025185.3(TANC2):c.1589_1590delGA MICROSAT Likely Pathogenic
982236 rs2046598826 GRCh37: 17:61428609-61428610
GRCh38: 17:63351248-63351249
41 KMT2E NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) DEL Likely Pathogenic
617565 rs1562927768 GRCh37: 7:104741923-104741927
GRCh38: 7:105101476-105101480
42 SLC2A1 NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter) SNV Likely Pathogenic
207196 GRCh37: 1:43394689-43394689
GRCh38: 1:42929018-42929018
43 SCN8A NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) SNV Likely Pathogenic
207119 rs796053216 GRCh37: 12:52184185-52184185
GRCh38: 12:51790401-51790401
44 DIAPH1 NM_005219.5(DIAPH1):c.2332C>T (p.Gln778Ter) SNV Likely Pathogenic
183344 rs730882242 GRCh37: 5:140953085-140953085
GRCh38: 5:141573518-141573518
45 OTUD6B NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys) SNV Likely Pathogenic
375704 rs1064797103 GRCh37: 8:92090825-92090825
GRCh38: 8:91078597-91078597
46 MECP2 NM_001110792.2(MECP2):c.63-5800_1271del DEL Likely Pathogenic
997823 GRCh37: X:153296044-153303808
GRCh38: X:154030593-154038357
47 WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) SNV Likely Pathogenic
440948 rs1554823375 GRCh37: 10:1126394-1126394
GRCh38: 10:1080454-1080454
48 WDR37 NM_014023.4(WDR37):c.386C>G (p.Ser129Cys) SNV Likely Pathogenic
633616 rs1589088702 GRCh37: 10:1126406-1126406
GRCh38: 10:1080466-1080466
49 WDR37 NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) SNV Likely Pathogenic
633617 rs1589088690 GRCh37: 10:1126376-1126376
GRCh38: 10:1080436-1080436
50 WDR37 NM_014023.4(WDR37):c.389C>T (p.Thr130Ile) SNV Likely Pathogenic
633618 rs1589088703 GRCh37: 10:1126409-1126409
GRCh38: 10:1080469-1080469

Copy number variations for Epilepsy from CNVD:

6 (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 10 52900000 61200000 Deletion Epilepsy
12 44656 10 61200000 64800000 Duplication Epilepsy
13 44657 10 61200000 64800000 Microdeletion Epilepsy
14 64691 12 130430446 131708300 Duplication Epilepsy
15 66574 12 3100000 10000000 Deletion Epilepsy
16 67699 12 4408710 5978830 Microdeletion AKAP3 Epilepsy
17 67700 12 4408710 5978830 Microdeletion C12orf4 Epilepsy
18 67701 12 4408710 5978830 Microdeletion DYRK4 Epilepsy
19 67702 12 4408710 5978830 Microdeletion FGF6 Epilepsy
20 67703 12 4408710 5978830 Microdeletion GALNT8 Epilepsy
21 67704 12 4408710 5978830 Microdeletion KCNA1 Epilepsy
22 67705 12 4408710 5978830 Microdeletion KCNA5 Epilepsy
23 67706 12 4408710 5978830 Microdeletion KCNA6 Epilepsy
24 67707 12 4408710 5978830 Microdeletion NDUFA9 Epilepsy
25 67708 12 4408710 5978830 Microdeletion NTF3 Epilepsy
26 67709 12 4408710 5978830 Microdeletion RAD51AP1 Epilepsy
27 67710 12 4408710 5978830 Microdeletion ANO2 Epilepsy
28 67711 12 4408710 5978830 Microdeletion VWF Epilepsy
29 80132 13 84690000 85360000 Deletion SLITRK6 Epilepsy
30 81544 14 103375996 106312055 Deletion Epilepsy
31 83035 14 19100000 34100000 Duplication FOXG1 Epilepsy
32 83208 14 19508845 34063670 Gain Epilepsy
33 83228 14 19582682 29076500 Gain Epilepsy
34 83231 14 19582682 33275612 Gain Epilepsy
35 84310 14 26908812 30254928 Gain Epilepsy
36 84331 14 27474978 30603041 Gain Epilepsy
37 84363 14 28217364 34635622 Gain Epilepsy
38 84366 14 28257153 35048345 Gain Epilepsy
39 87172 14 70960000 71230000 Deletion SIPA1L1 Epilepsy
40 89268 15 17000000 31400000 Deletion-maternal Epilepsy
41 89270 15 17000000 31400000 Deletion-paternal Epilepsy
42 89276 15 17000000 31400000 Duplication Epilepsy
43 89372 15 18285782 20868229 Microdeletion POTEB Epilepsy
44 89373 15 18285782 20868229 Microdeletion Epilepsy
45 89374 15 18285782 20868229 Microdeletion Epilepsy
46 89375 15 18285782 20868229 Microdeletion Epilepsy
47 89376 15 18285782 20868229 Microdeletion Epilepsy
48 89377 15 18285782 20868229 Microdeletion Epilepsy
49 89378 15 18285782 20868229 Microdeletion Epilepsy
50 89379 15 18285782 20868229 Microdeletion Epilepsy

Expression for Epilepsy

Search GEO for disease gene expression data for Epilepsy.

Pathways for Epilepsy



Pathways directly related to Epilepsy:

# Pathway Source
1 Defective SLC35A3 causes arthrogryposis, mental retardation, and seizures (AMRS) Reactome 66

Pathways related to Epilepsy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.02 SCN8A SCN1A KCNT1 GRIN2B GRIN2A ATP1A3
2 11.99 SCN8A SCN1A GRIN2B GRIN2A
3 11.58 SLC2A1 GRIN2B GRIN2A
4 10.61 SCN8A SCN1A GRIN2B GRIN2A

GO Terms for Epilepsy

Cellular components related to Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NMDA selective glutamate receptor complex GO:0017146 8.92 GRIN2B GRIN2A

Biological processes related to Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 excitatory chemical synaptic transmission GO:0098976 9.71 GRIN2B GRIN2A
2 calcium ion transmembrane import into cytosol GO:0097553 9.67 GRIN2B GRIN2A
3 monoatomic ion transport GO:0006811 9.63 SCN8A SCN1A KCNT1 GRIN2B GRIN2A ATP1A3
4 regulation of monoatomic cation transmembrane transport GO:1904062 9.56 GRIN2B GRIN2A
5 monoatomic ion transmembrane transport GO:0034220 9.35 SCN8A SCN1A GRIN2B GRIN2A ATP1A3
6 cellular macromolecule metabolic process GO:0044260 9.32 NHLRC1 EPM2A
7 monoatomic cation transmembrane transport GO:0098655 9.1 SCN8A SCN1A GRIN2B GRIN2A

Molecular functions related to Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NMDA glutamate receptor activity GO:0004972 9.62 GRIN2B GRIN2A
2 glutamate-gated calcium ion channel activity GO:0022849 9.46 GRIN2B GRIN2A
3 monoatomic cation channel activity GO:0005261 9.43 SCN8A SCN1A GRIN2A
4 ionotropic glutamate receptor activity GO:0004970 9.37 GRIN2B GRIN2A
5 monoatomic ion channel activity GO:0005216 9.26 SCN8A SCN1A GRIN2B GRIN2A
6 ligand-gated monoatomic cation channel activity GO:0099094 8.62 GRIN2B GRIN2A

Sources for Epilepsy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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