MCID: EPL164
MIFTS: 70

Epilepsy

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Epilepsy

MalaCards integrated aliases for Epilepsy:

Name: Epilepsy 12 73 53 29 54 6 42 3 44 15 62 39 17 70 32
Epilepsy Syndrome 12 58
Epileptic Syndrome 12
Epilepsies 15

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:1826
ICD9CM 34 345.9
MeSH 44 D004827
NCIt 50 C3020
SNOMED-CT 67 267698007
Orphanet 58 ORPHA166463
UMLS 70 C0014544

Summaries for Epilepsy

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 benign epilepsy with centrotemporal spikes and epilepsy, myoclonic juvenile, and has symptoms including seizures, tremor and back pain. An important gene associated with Epilepsy is SCN8A (Sodium Voltage-Gated Channel Alpha Subunit 8), and among its related pathways/superpathways are Neuropathic Pain-Signaling in Dorsal Horn Neurons and cAMP signaling pathway. 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

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

Related Diseases for Epilepsy

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 2644)
# Related Disease Score Top Affiliating Genes
1 benign epilepsy with centrotemporal spikes 34.0 WWOX SLC2A1 SCN8A SCN1A RELN MECP2
2 epilepsy, myoclonic juvenile 34.0 SLC2A1 SCN1A LGI1 EPM2A DEPDC5 CPA6
3 dravet syndrome 33.8 SLC2A1 SCN8A SCN1A MECP2 LGI1 GRIN2B
4 focal epilepsy 33.8 SLC2A1 SCN8A SCN1A MECP2 LGI1 GRIN2B
5 epilepsy, idiopathic generalized 33.7 SLC2A1 SCN8A SCN1A LGI1 GRIN2A CACNB4
6 temporal lobe epilepsy 33.7 RELN LGI1 GRIN2B GRIN2A CPA6
7 childhood absence epilepsy 33.7 SLC2A1 SCN8A SCN1A LGI1 DEPDC5 CACNB4
8 autosomal dominant nocturnal frontal lobe epilepsy 33.6 SCN8A SCN1A LGI1 DEPDC5 CACNB4
9 early myoclonic encephalopathy 33.5 SLC2A1 SCN8A SCN1A MECP2 LGI1 EPM2A
10 generalized epilepsy with febrile seizures plus 33.4 SCN8A SCN1A LGI1 DEPDC5
11 unverricht-lundborg syndrome 33.3 SCN1A LGI1 EPM2A
12 epilepsy, focal, with speech disorder and with or without mental retardation 33.2 GRIN2B GRIN2A
13 benign neonatal seizures 33.1 SCN8A SCN1A CACNB4
14 lennox-gastaut syndrome 33.1 SLC2A1 SCN8A SCN1A MECP2 GRIN2B GRIN2A
15 west syndrome 33.1 WWOX SLC2A1 SCN8A SCN1A MECP2 LGI1
16 benign familial infantile epilepsy 33.0 SCN8A SCN1A LGI1 DEPDC5 ATP1A3
17 autosomal dominant epilepsy with auditory features 32.9 RELN LGI1 DEPDC5
18 epilepsy, familial temporal lobe, 7 32.9 RELN LGI1
19 epilepsy, familial temporal lobe, 3 32.9 LGI1 DEPDC5
20 reflex epilepsy 32.9 SCN1A LGI1
21 early infantile epileptic encephalopathy 32.9 WWOX SLC2A1 SCN8A SCN1A PIGQ MECP2
22 febrile seizures 32.9 SCN8A SCN1A CPA6
23 partial motor epilepsy 32.8 SCN8A SCN1A LGI1 DEPDC5
24 epilepsy, familial temporal lobe, 5 32.7 SCN1A CPA6
25 myoclonus 32.7 SLC2A1 SCN8A EPM2A
26 status epilepticus 32.6 SCN1A LGI1 GRIN2B
27 myoclonic epilepsy of infancy 32.6 SCN8A SCN1A
28 landau-kleffner syndrome 32.6 SCN1A MECP2 GRIN2B GRIN2A
29 early onset absence epilepsy 32.5 SLC2A1 SCN1A DEPDC5
30 febrile seizures, familial, 11 32.5 SCN1A CPA6
31 seizure disorder 32.5 WWOX TTC21B TSHR SLC2A1 SCN8A SCN1A
32 migraine with or without aura 1 32.4 SCN8A SCN1A GRIN2B CACNB4 ATP1A3
33 alacrima, achalasia, and mental retardation syndrome 32.4 WWOX SLC2A1 SCN1A OTUD6B MECP2 GRIN2B
34 autism 32.3 SCN8A SCN1A RELN NBEA MECP2 GRIN2B
35 developmental and epileptic encephalopathy 13 32.2 SCN8A SCN1A
36 autism spectrum disorder 32.1 SCN1A RELN NBEA MECP2 GRIN2B GRIN2A
37 amnestic disorder 31.7 LGI1 GRIN2B GRIN2A
38 microcephaly 31.7 WWOX SLC2A1 SCN1A MECP2 GRIN2B GRIN2A
39 hemiplegia 31.7 SLC2A1 SCN1A ATP1A3
40 dystonia 31.7 SLC2A1 RELN MECP2 GRIN2B GRIN2A ATP1A3
41 pervasive developmental disorder 31.5 SCN1A RELN MECP2 GRIN2B GRIN2A
42 disease of mental health 31.5 WWOX SLC2A1 SCN8A SCN1A RELN OTUD6B
43 rett syndrome 31.4 SCN8A SCN1A MECP2 GRIN2B
44 speech and communication disorders 31.3 MECP2 LGI1 GRIN2B GRIN2A
45 episodic ataxia 31.2 SCN8A SCN1A LGI1 CACNB4 ATP1A3
46 speech disorder 31.2 MECP2 GRIN2B GRIN2A
47 choreatic disease 31.1 SLC2A1 LGI1 GRIN2B ATP1A3
48 developmental and epileptic encephalopathy 14 31.1 SCN8A SCN1A MECP2 DEPDC5
49 migraine with aura 31.0 SLC2A1 SCN1A ATP1A3
50 alternating hemiplegia of childhood 30.9 SLC2A1 SCN1A ATP1A3

Graphical network of the top 20 diseases related to Epilepsy:



Diseases related to Epilepsy

Symptoms & Phenotypes for Epilepsy

UMLS symptoms related to Epilepsy:


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

MGI Mouse Phenotypes related to Epilepsy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.1 ATP1A3 CACNB4 DEPDC5 EPM2A GRIN2A GRIN2B
2 growth/size/body region MP:0005378 10.09 ATP1A3 CACNB4 DEPDC5 EPM2A GRIN2B LGI1
3 mortality/aging MP:0010768 9.89 ATP1A3 CACNB4 DEPDC5 EPM2A GRIN2B LGI1
4 nervous system MP:0003631 9.55 ATP1A3 CACNB4 DEPDC5 EPM2A GRIN2A GRIN2B

Drugs & Therapeutics for Epilepsy

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 390)
# 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
Norepinephrine Approved Phase 4 51-41-2 439260
6
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
7
Tocopherol Approved, Investigational Phase 4 1406-66-2
8
Labetalol Approved Phase 4 36894-69-6 3869
9
Ivermectin Approved, Investigational, Vet_approved Phase 4 70288-86-7 6474909
10
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
11
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
12
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
13
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
14
Clevidipine Approved, Investigational Phase 4 167221-71-8
15
Hydralazine Approved Phase 4 86-54-4 3637
16
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
17
Etonogestrel Approved, Investigational Phase 4 54048-10-1 6917715 40976
18
Rufinamide Approved Phase 4 106308-44-5 129228
19
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
20
gamma-Aminobutyric acid Approved, Investigational Phase 4 56-12-2 119
21
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
22
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
23
Memantine Approved, Investigational Phase 4 19982-08-2 4054
24
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
25
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
26
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
27
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
28
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
29
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
30
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
31
Amitriptyline Approved Phase 4 50-48-6 2160
32
Rotigotine Approved Phase 4 99755-59-6, 92206-54-7 57537
33
Clopidogrel Approved Phase 4 113665-84-2, 120202-66-6 60606
34
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
35
Rizatriptan Approved Phase 4 145202-66-0, 144034-80-0 5078
36
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
37
Zolmitriptan Approved, Investigational Phase 4 139264-17-8 441240 60857
38
Donepezil Approved Phase 4 120014-06-4 3152
39
Propranolol Approved, Investigational Phase 4 525-66-6 4946
40
Dopamine Approved Phase 4 62-31-7, 51-61-6 681
41
rituximab Approved Phase 4 174722-31-7 10201696
42
Zinc Approved, Investigational Phase 4 7440-66-6 32051
43
Selenium Approved, Investigational, Vet_approved Phase 4 7782-49-2
44
Methylphenidate Approved, Investigational Phase 4 113-45-1 4158
45
Copper Approved, Investigational Phase 4 7440-50-8 27099
46
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
47
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
48
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
49
Topiramate Approved Phase 4 97240-79-4 5284627
50
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554

Interventional clinical trials:

(show top 50) (show all 1415)
# 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 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)
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 The Impact of Reducing Overtreatment on Quality of Life in Children With Refractory Epilepsy Unknown status NCT00647322 Phase 4
7 Prospective Open Label Evaluation of Clobazam Adjunctive Treatment of Adults With Refractory Focal Epilepsy: A Pilot Study Unknown status NCT02726919 Phase 4 Clobazam
8 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
9 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
10 Effects of Perampanel on Cognition and Electroencephalography in Patients With Epilepsy Unknown status NCT02900755 Phase 4 Perampanel
11 Immunotherapy in Intractable Cryptogenic Epilepsy Patients With Autoimmune Antibody Unknown status NCT02695797 Phase 4 Prednisolone
12 A Randomized Controlled Trial of Generic Substitution of Antiepileptic Drugs Unknown status NCT02429596 Phase 4 Experimental
13 Comparison of Oral 30 % Dextrose and iv Midazolam Sedation During MRI in Neonates Unknown status NCT02645279 Phase 4 IV midazolam
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 Comprehensive Information Imparted to Patients With Epilepsy and Comorbidity and Decreased Prevalence of Adverse Treatment Effects. The EDU-COM Study. Completed NCT01804322 Phase 4
16 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
17 A Multicenter, Open-Label Conversion of Valproate Monotherapy to Lamotrigine Monotherapy in Patients With Epilepsy Completed NCT00043914 Phase 4 lamotrigine
18 A Clinical Pharmacokinetics Comparing Brand and Generic Topiramate in Epilepsy Patients : A Open-label,Randomised, Three-period Crossover Study Completed NCT02113787 Phase 4
19 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
20 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
21 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
22 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
23 Effect of Small Changes in Plasma Valproic Acid Concentration on the Photoparoxysmal Response Completed NCT00609245 Phase 4 Valproic Acid;Placebo
24 Evaluation of Bioequivalence of Lamotrigine Tablets in Epileptic Patients Completed NCT01995825 Phase 4 Brand lamotrigine;Generic lamotrigine
25 IV Lacosamide: The Safety of Intravenous Lacosamide Completed NCT00832884 Phase 4 Lacosamide
26 Phenytoin and Driving Safety Completed NCT00581893 Phase 4 Phenytoin
27 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
28 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
29 A Multicenter Comparative Trial of Zonisamide and Topiramate as Initial Monotherapy in Untreated Epilepsies Completed NCT00154076 Phase 4 Zonisamide;Topiramate
30 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)
31 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
32 RNS® System Long-term Treatment (LTT) Clinical Investigation Completed NCT00572195 Phase 4
33 Methylphenidate Treatment of Attentional and Cognitive Deficits in Epilepsy Completed NCT02178995 Phase 4 Methylphenidate
34 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
35 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
36 PROSPECTIVE RANDOMIZED 12-WEEK CONTROLLED STUDY OF VISUAL FIELD CHANGE IN SUBJECTS WITH PARTIAL SEIZURES RECEIVING PREGABALIN OR PLACEBO Completed NCT00351611 Phase 4 Lyrica (pregabalin);placebo
37 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
38 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
39 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
40 Escitalopram Treatment of Major Depression in Patients With Temporal Lobe Epilepsy. A Double-blind, Placebo-controlled Study. Completed NCT00595699 Phase 4 escitalopram;placebo
41 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
42 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
43 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
44 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
45 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
46 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
47 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)
48 Pharmacovigilance Study of Keppra. SPAIN - SKATE : Safety of Keppra as Adjunctive Therapy in Epilepsy Completed NCT00643500 Phase 4 Levetiracetam
49 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
50 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

Search NIH Clinical Center for Epilepsy

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

Cochrane evidence based reviews: epilepsy

Genetic Tests for Epilepsy

Genetic tests related to Epilepsy:

# Genetic test Affiliating Genes
1 Epilepsy 29

Anatomical Context for Epilepsy

MalaCards organs/tissues related to Epilepsy:

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

Publications for Epilepsy

Articles related to Epilepsy:

(show top 50) (show all 31376)
# Title Authors PMID Year
1
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. 6 61
24463883 2014
2
Prevalence and influencing factors of depression of caregivers in children with epilepsy in southwestern China: a cross-sectional study. 42 61
33725809 2021
3
Chinese herbal compounds containing scorpion in the treatment of epilepsy: A protocol for systematic review and meta-analysis. 61 42
33725915 2021
4
Older adults with epilepsy: memory complaints and objective neuropsychological performance. 61 42
33759980 2021
5
Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations. 6
30690204 2020
6
Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders. 6
31616000 2019
7
PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype. 6
31148362 2019
8
In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes. 6
28027978 2017
9
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families. 6
25558065 2015
10
Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome. 6
21984751 2012
11
Association between deletion size and important phenotypes expands the genomic region of interest in Phelan-McDermid syndrome (22q13 deletion syndrome). 6
21984749 2011
12
Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders. 6
19289393 2009
13
A 15q13.3 microdeletion segregating with autism. 6
19050728 2009
14
Splicing in action: assessing disease causing sequence changes. 6
16199547 2005
15
22q13 deletion syndrome. 6
11391650 2001
16
NaV1.1 channels and epilepsy. 61 54
20194124 2010
17
Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy. 61 54
20156848 2010
18
Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects. 61 54
20351042 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. 54 61
20080116 2010
20
Alteration in chromogranin A, obestatin and total ghrelin levels of saliva and serum in epilepsy cases. 61 54
20172008 2010
21
A nonsynonymous variation in MRP2/ABCC2 is associated with neurological adverse drug reactions of carbamazepine in patients with epilepsy. 61 54
20216337 2010
22
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. 61 54
19752159 2010
23
Expression of synaptic vesicle protein 2A in epilepsy-associated brain tumors and in the peritumoral cortex. 54 61
20167814 2010
24
Intracellular aggregation of human stefin B: confocal and electron microscopy study. 54 61
20078424 2010
25
Epilepsy and the natural history of Rett syndrome. 54 61
20231667 2010
26
Sporadic hemiplegic migraine and epilepsy associated with CACNA1A gene mutation. 61 54
20071244 2010
27
Drug transporters are altered in brain, liver and kidney of rats with chronic epilepsy induced by lithium-pilocarpine. 54 61
19570321 2010
28
Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy. 54 61
20133599 2010
29
Reelin deficiency causes granule cell dispersion in epilepsy. 61 54
19633980 2010
30
Doublecortin expression in focal cortical dysplasia in epilepsy. 54 61
19583780 2009
31
Localization of epileptic foci in children with intractable epilepsy secondary to multiple cortical tubers by using synthetic aperture magnetometry kurtosis. 61 54
19951036 2009
32
Therapeutic epilepsy research: from pharmacological rationale to focal adenosine augmentation. 54 61
19682439 2009
33
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. 54 61
19874387 2009
34
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy. 54 61
19734009 2009
35
Dynamic up-regulation of prodynorphin transcription in temporal lobe epilepsy. 61 54
19437412 2009
36
Down-regulation synaptic vesicle protein 2A in the anterior temporal neocortex of patients with intractable epilepsy. 54 61
19757204 2009
37
Arrested maturation of excitatory synapses in autosomal dominant lateral temporal lobe epilepsy. 54 61
19701204 2009
38
Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death. 54 61
20368164 2009
39
Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. 54 61
19605412 2009
40
The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. 61 54
19577488 2009
41
Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity. 61 54
19586930 2009
42
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. 61 54
19482265 2009
43
Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy. 61 54
19435586 2009
44
The mechanisms of medically refractory temporal lobe epilepsy. 61 54
19960958 2009
45
Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes. 61 54
19464834 2009
46
Metabolic epilepsies: approaches to a diagnostic challenge. 61 54
19760908 2009
47
Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations. 61 54
19666879 2009
48
The Val66Met polymorphism in the BDNF gene is associated with epilepsy in fragile X syndrome. 61 54
19394799 2009
49
Epilepsy in glioblastoma multiforme: correlation with glutamine synthetase levels. 61 54
19183851 2009
50
Autoantibodies to glutamic acid decarboxylase (GAD) in focal and generalized epilepsy: A study on 233 patients. 54 61
19428124 2009

Variations for Epilepsy

ClinVar genetic disease variations for Epilepsy:

6 (show top 50) (show all 321)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TTC21B NC_000002.11:g.166679228_166818452inv Inversion Pathogenic 635921 GRCh37: 2:166679228-166818452
GRCh38:
2 CEP128 , TSHR NM_000369.5(TSHR):c.122G>C (p.Cys41Ser) SNV Pathogenic 6442 rs121908869 GRCh37: 14:81422146-81422146
GRCh38: 14:80955802-80955802
3 overlap with 4 genes Deletion Pathogenic 635920 GRCh37: 2:166050817-166679227
GRCh38:
4 SCN1A Deletion Pathogenic 635922 GRCh37: 2:166818453-166939516
GRCh38:
5 overlap with 5 genes Deletion Pathogenic 223117 GRCh37: 22:51027581-51234443
GRCh38:
6 PIGQ NM_004204.5(PIGQ):c.618del (p.Arg206fs) Deletion Pathogenic 644371 rs1229740428 GRCh37: 16:624691-624691
GRCh38: 16:574691-574691
7 PIGQ NM_004204.5(PIGQ):c.968_969del (p.Leu323fs) Deletion Pathogenic 520669 rs747661902 GRCh37: 16:628404-628405
GRCh38: 16:578404-578405
8 NBEA NM_015678.5(NBEA):c.4662+1G>C SNV Pathogenic 976285 GRCh37: 13:35751241-35751241
GRCh38: 13:35177104-35177104
9 overlap with 36 genes Deletion Pathogenic 223119 GRCh37: 22:49033233-51193680
GRCh38:
10 OTUD6B NM_016023.5(OTUD6B):c.379_383del (p.Leu127fs) Deletion Pathogenic 375702 rs759317757 GRCh37: 8:92090644-92090648
GRCh38: 8:91078416-91078420
11 OTUD6B NM_016023.5(OTUD6B):c.83-2A>G SNV Pathogenic 375703 rs1064797102 GRCh37: 8:92083364-92083364
GRCh38: 8:91071136-91071136
12 DEPDC5 NM_001242896.3(DEPDC5):c.4066del (p.Leu1356fs) Deletion Pathogenic 834049 GRCh37: 22:32289598-32289598
GRCh38: 22:31893612-31893612
13 SCN8A NM_001330260.2(SCN8A):c.4447G>A (p.Glu1483Lys) SNV Pathogenic 253195 rs879255652 GRCh37: 12:52184209-52184209
GRCh38: 12:51790425-51790425
14 overlap with 47 genes Deletion Pathogenic 997809 GRCh37: 22:18889490-21463730
GRCh38:
15 overlap with 10 genes Deletion Pathogenic 997817 GRCh37: 15:75596353-76103430
GRCh38:
16 overlap with 27 genes Duplication Pathogenic 997818 GRCh37: 22:23699269-24992266
GRCh38:
17 overlap with 15 genes Deletion Pathogenic 997820 GRCh37: 16:14968859-16363239
GRCh38:
18 overlap with 47 genes Deletion Pathogenic 997822 GRCh37: 9:139764148-141066491
GRCh38:
19 overlap with 7 genes GRCh37/hg19 14q12(chr14:27450705-31529481)x3 copy number gain Pathogenic 997966 GRCh37: 14:27450705-31529481
GRCh38:
20 overlap with 47 genes GRCh37/hg19 22q11.21(chr22:18886915-21461017)x3 copy number gain Pathogenic 997967 GRCh37: 22:18886915-21461017
GRCh38:
21 WWOX Deletion Pathogenic 997824 GRCh37: 16:78149052-78420756
GRCh38:
22 ATP1A3 NM_152296.5(ATP1A3):c.2839G>A (p.Gly947Arg) SNV Pathogenic 37110 rs398122887 GRCh37: 19:42471896-42471896
GRCh38: 19:41967744-41967744
23 OTUD6B NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter) SNV Pathogenic 375701 rs368313959 GRCh37: 8:92090611-92090611
GRCh38: 8:91078383-91078383
24 KMT2E NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs) Deletion Likely pathogenic 617565 rs1562927768 GRCh37: 7:104741923-104741927
GRCh38: 7:105101476-105101480
25 WDR37 NM_014023.4(WDR37):c.374C>T (p.Thr125Ile) SNV Likely pathogenic 440948 rs1554823375 GRCh37: 10:1126394-1126394
GRCh38: 10:1080454-1080454
26 GRIN2A NM_000833.3:c.(?_-310-1)_(414+1_415-1)del Deletion Likely pathogenic 998168 GRCh37:
GRCh38:
27 SLC2A1 NM_006516.3(SLC2A1):c.988C>T (p.Arg330Ter) SNV Likely pathogenic 207196 GRCh37: 1:43394689-43394689
GRCh38: 1:42929018-42929018
28 MECP2 NM_001110792.2(MECP2):c.63-5800_1271del Deletion Likely pathogenic 997823 GRCh37: X:153296044-153303808
GRCh38: X:154030593-154038357
29 ARFGEF1-DT , CPA6 NM_020361.5(CPA6):c.931C>T (p.Arg311Ter) SNV Likely pathogenic 434821 rs139145929 GRCh37: 8:68346383-68346383
GRCh38: 8:67434148-67434148
30 PIGQ NM_004204.4(PIGQ):c.942+1G>A SNV Likely pathogenic 453003 rs200661329 GRCh37: 16:626255-626255
GRCh38: 16:576255-576255
31 SCN8A NM_001330260.2(SCN8A):c.4423G>A (p.Gly1475Arg) SNV Likely pathogenic 207119 rs796053216 GRCh37: 12:52184185-52184185
GRCh38: 12:51790401-51790401
32 ATP1A2 NM_000702.4(ATP1A2):c.835del (p.Arg279fs) Deletion Likely pathogenic 586989 rs1558005340 GRCh37: 1:160097428-160097428
GRCh38: 1:160127638-160127638
33 OTUD6B NM_016023.5(OTUD6B):c.557A>G (p.Tyr186Cys) SNV Likely pathogenic 375704 rs1064797103 GRCh37: 8:92090825-92090825
GRCh38: 8:91078597-91078597
34 ATP1A2 NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs) Deletion Likely pathogenic 562228 rs1558008455 GRCh37: 1:160105074-160105075
GRCh38: 1:160135284-160135285
35 MT-CYB NC_012920.1:m.15060G>A SNV Likely pathogenic 370062 rs1057516072 GRCh37: MT:15060-15060
GRCh38: MT:15060-15060
36 WDR37 NM_014023.4(WDR37):c.386C>G (p.Ser129Cys) SNV Likely pathogenic 633616 rs1589088702 GRCh37: 10:1126406-1126406
GRCh38: 10:1080466-1080466
37 WDR37 NM_014023.4(WDR37):c.356C>T (p.Ser119Phe) SNV Likely pathogenic 633617 rs1589088690 GRCh37: 10:1126376-1126376
GRCh38: 10:1080436-1080436
38 WDR37 NM_014023.4(WDR37):c.389C>T (p.Thr130Ile) SNV Likely pathogenic 633618 rs1589088703 GRCh37: 10:1126409-1126409
GRCh38: 10:1080469-1080469
39 TANC2 NM_025185.4(TANC2):c.3828del (p.Glu1277fs) Deletion Likely pathogenic 982237 GRCh37: 17:61492948-61492948
GRCh38: 17:63415587-63415587
40 UBE4A NM_001204077.2(UBE4A):c.1185_1186del (p.Lys396fs) Deletion Likely pathogenic 617553 rs1565532385 GRCh37: 11:118245679-118245680
GRCh38: 11:118374964-118374965
41 TANC2 NC_000017.11:g.63351253_63351254del Microsatellite Likely pathogenic 982236 GRCh37: 17:61428609-61428610
GRCh38: 17:63351248-63351249
42 overlap with 7 genes Deletion Likely pathogenic 223109 GRCh37: 15:30941572-32509926
GRCh38:
43 MT-CO3 NC_012920.1:m.9237G>A SNV Likely pathogenic 370052 rs1057516064 GRCh37: MT:9237-9237
GRCh38: MT:9237-9237
44 SETD1B NM_001353345.1(SETD1B):c.1526_1527del (p.Glu509fs) Deletion Likely pathogenic 692025 rs1592977444 GRCh37: 12:122248376-122248377
GRCh38: 12:121810470-121810471
45 ATP1A2 NM_000702.4(ATP1A2):c.3027T>A (p.Tyr1009Ter) SNV Likely pathogenic 692197 rs1570998206 GRCh37: 1:160109767-160109767
GRCh38: 1:160139977-160139977
46 NR4A2 NM_006186.4(NR4A2):c.327dup (p.Ser110fs) Duplication Likely pathogenic 545565 rs1553456695 GRCh37: 2:157186371-157186372
GRCh38: 2:156329859-156329860
47 GRIN2B NM_000834.4(GRIN2B):c.2116A>G (p.Met706Val) SNV Likely pathogenic 374226 rs1057518988 GRCh37: 12:13724793-13724793
GRCh38: 12:13571859-13571859
48 CACNA1C NM_000719.7(CACNA1C):c.1841T>C (p.Leu614Pro) SNV Uncertain significance 374232 rs1057518994 GRCh37: 12:2676906-2676906
GRCh38: 12:2567740-2567740
49 NRXN2 NM_015080.4(NRXN2):c.551T>G (p.Leu184Arg) SNV Uncertain significance 374235 rs1057518997 GRCh37: 11:64480621-64480621
GRCh38: 11:64713149-64713149
50 DLG3 NM_021120.4(DLG3):c.1469G>A (p.Ser490Asn) SNV Uncertain significance 374247 rs1057519008 GRCh37: X:69699063-69699063
GRCh38: X:70479213-70479213

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 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 related to Epilepsy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.14 SCN8A SCN1A GRIN2B GRIN2A ATP1A3
2 11.89 TSHR GRIN2B GRIN2A ATP1A3
3 11.89 SCN8A SCN1A MECP2 GRIN2B GRIN2A
4
Show member pathways
11.37 SCN8A SCN1A CACNB4
5 10.69 GRIN2B GRIN2A
6 10.26 RELN 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 plasma membrane GO:0005886 10.15 WWOX TSHR SLC2A1 SCN8A SCN1A RELN
2 Z disc GO:0030018 9.58 SLC2A1 SCN8A SCN1A
3 axon initial segment GO:0043194 9.32 SCN8A SCN1A
4 voltage-gated sodium channel complex GO:0001518 9.26 SCN8A SCN1A
5 synapse GO:0045202 9.17 SLC2A1 MECP2 LGI1 GRIN2B GRIN2A CACNB4
6 node of Ranvier GO:0033268 9.16 SCN8A SCN1A
7 NMDA selective glutamate receptor complex GO:0017146 8.96 GRIN2B GRIN2A

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 ion transmembrane transport GO:0034220 9.87 SCN8A SCN1A GRIN2A ATP1A3
2 brain development GO:0007420 9.83 RELN MECP2 GRIN2B GRIN2A
3 chemical synaptic transmission GO:0007268 9.8 MECP2 GRIN2B GRIN2A CACNB4
4 protein localization GO:0008104 9.65 NBEA MECP2 CEP128
5 cation transmembrane transport GO:0098655 9.63 SCN8A SCN1A GRIN2A
6 ion transport GO:0006811 9.63 SCN8A SCN1A GRIN2B GRIN2A CACNB4 ATP1A3
7 ventricular system development GO:0021591 9.58 TTC21B MECP2
8 learning GO:0007612 9.58 RELN MECP2 GRIN2A
9 membrane depolarization during action potential GO:0086010 9.56 SCN8A SCN1A
10 glutamate receptor signaling pathway GO:0007215 9.55 GRIN2B GRIN2A
11 startle response GO:0001964 9.54 MECP2 GRIN2A
12 excitatory postsynaptic potential GO:0060079 9.54 MECP2 GRIN2B GRIN2A
13 neuromuscular process controlling posture GO:0050884 9.51 SCN1A MECP2
14 excitatory chemical synaptic transmission GO:0098976 9.43 GRIN2B GRIN2A
15 regulation of synaptic plasticity GO:0048167 9.43 MECP2 GRIN2B GRIN2A
16 calcium ion transmembrane import into cytosol GO:0097553 9.32 GRIN2B GRIN2A
17 regulation of NMDA receptor activity GO:2000310 9.13 RELN GRIN2B GRIN2A
18 long-term synaptic potentiation GO:0060291 8.92 RELN MECP2 GRIN2B GRIN2A

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

# Name GO ID Score Top Affiliating Genes
1 amyloid-beta binding GO:0001540 9.5 GRIN2B GRIN2A ATP1A3
2 ion channel activity GO:0005216 9.46 SCN8A SCN1A GRIN2B GRIN2A