Aliases & Classifications for Focal Epilepsy

MalaCards integrated aliases for Focal Epilepsy:

Name: Focal Epilepsy 12 29 6 15
Partial Epilepsy 12 15 17
Epilepsies, Partial 43 71
Localisation-Related Epilepsy 12


External Ids:

Disease Ontology 12 DOID:2234
MeSH 43 D004828
NCIt 49 C122812
SNOMED-CT 67 230381009
UMLS 71 C0014547

Summaries for Focal Epilepsy

Disease Ontology : 12 An epilepsy syndrome that is characterised by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response.

MalaCards based summary : Focal Epilepsy, also known as partial epilepsy, is related to epilepsy, familial focal, with variable foci 1 and malignant migrating partial seizures of infancy, and has symptoms including seizures An important gene associated with Focal Epilepsy is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Developmental Biology and Transmission across Chemical Synapses. The drugs Methylprednisolone and Prednisolone phosphate have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and cortex, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Focal Epilepsy

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

(show top 50) (show all 436)
# Related Disease Score Top Affiliating Genes
1 epilepsy, familial focal, with variable foci 1 34.7 NPRL3 NPRL2 DEPDC5
2 malignant migrating partial seizures of infancy 33.9 SCN2A SCN1A KCNT1
3 epilepsy, familial temporal lobe, 1 33.5 LGI1 CHRNB2 CHRNA2
4 epilepsy, focal, with speech disorder and with or without mental retardation 33.3 SPTAN1 GRIN2B GRIN2A
5 partial motor epilepsy 33.3 SCN2A SCN1A LGI1 KCNT1 DEPDC5 CDKL5
6 landau-kleffner syndrome 33.2 SCN2A SCN1A KCNT1 GRIN2B GRIN2A GABRG2
7 epilepsy, nocturnal frontal lobe, 2 32.8 CHRNB2 CHRNA4
8 epilepsy, nocturnal frontal lobe, 1 32.8 SCN1A GABRG2 CHRNB2 CHRNA4 CHRNA2
9 epilepsy, nocturnal frontal lobe, 3 32.8 CHRNB2 CHRNA4
10 epilepsy 32.2 TSPO SPTAN1 SCN8A SCN2A SCN1A NPRL3
11 seizure disorder 32.2 SCN2A SCN1A
12 temporal lobe epilepsy 32.1 TSPO SCN1A LGI1 GRIN2B GRIN2A
13 visual epilepsy 32.1 SPTAN1 SCN8A SCN2A SCN1A GABRG2 DEPDC5
14 febrile seizures 31.7 SCN8A SCN2A SCN1A GABRG2 CHRNB2
15 status epilepticus 31.6 TSPO SCN1A LGI1 GRIN2B
16 encephalopathy 31.6 SPTAN1 SCN1A CDKL5
17 early myoclonic encephalopathy 31.3 SCN8A SCN2A SCN1A KCNT1 GABRG2 CHRNA4
18 benign epilepsy with centrotemporal spikes 31.2 SPTAN1 SCN2A SCN1A NPRL3 NPRL2 LGI1
19 epilepsy, myoclonic juvenile 31.2 SCN2A SCN1A LGI1 GABRG2 DEPDC5 CHRNB2
20 genetic epilepsy with febrile seizures plus 31.1 SCN2A SCN1A
21 autosomal dominant epilepsy with auditory features 31.1 LGI1 DEPDC5 CNTNAP2
22 autosomal dominant nocturnal frontal lobe epilepsy 31.1 SCN2A SCN1A NPRL3 NPRL2 LGI1 KCNT1
23 lennox-gastaut syndrome 31.1 SCN8A SCN2A SCN1A KCNT1 GRIN2B GRIN2A
24 migraine with or without aura 1 31.0 SCN8A SCN2A SCN1A GRIN2B CACNA1H
25 epilepsy, idiopathic generalized 31.0 TSPO SCN8A SCN2A SCN1A LGI1 KCNT1
26 speech and communication disorders 30.9 SCN8A LGI1 GRIN2B GRIN2A CNTNAP2
27 generalized epilepsy with febrile seizures plus 30.9 SCN8A SCN2A SCN1A LGI1 KCNT1 GABRG2
28 hemimegalencephaly 30.9 SCN1A MTOR
29 west syndrome 30.8 SPTAN1 SCN8A SCN2A SCN1A KCNT1 GRIN2B
30 reflex epilepsy 30.8 SCN1A LGI1 GABRG2 CHRNB2 CHRNA4 CHRNA2
31 electroclinical syndrome 30.8 SCN8A SCN2A SCN1A KCNT1 GRIN2A GABRG2
32 amnestic disorder 30.8 TSPO LGI1 GRIN2B CNTNAP2
33 attention deficit-hyperactivity disorder 30.8 TSPO SCN8A GRIN2B GRIN2A CNTNAP2 CHRNA4
34 epileptic encephalopathy, early infantile, 6 30.8 SCN8A SCN2A SCN1A LGI1 KCNT1 GRIN2B
35 autism spectrum disorder 30.8 SCN2A SCN1A GRIN2B GRIN2A GABRG2 CNTNAP2
36 low-grade astrocytoma 30.7 SCN8A SCN2A SCN1A
37 sturge-weber syndrome 30.7 SCN1A GABRG2 CDKL5
38 autoimmune encephalitis 30.6 LGI1 CNTNAP2
39 epilepsy, familial temporal lobe, 3 30.6 LGI1 DEPDC5
40 limbic encephalitis 30.6 LGI1 GRIN2B
41 angelman syndrome 30.6 TSPO MTOR GABRG2 CDKL5
42 obsessive-compulsive disorder 30.6 GRIN2B GRIN2A GABRG2 CNTNAP2
43 pervasive developmental disorder 30.5 SCN8A SCN2A SCN1A MTOR GRIN2B GRIN2A
44 episodic ataxia 30.5 SCN8A SCN2A SCN1A LGI1 CNTNAP2
45 generalized epilepsy with febrile seizures plus, type 2 30.5 SCN1A GABRG2
46 hyperekplexia 30.5 LGI1 GABRG2 CNTNAP2
47 benign familial infantile epilepsy 30.4 SCN8A SCN2A SCN1A LGI1 KCNT1 GABRG2
49 childhood absence epilepsy 30.3 TSPO SCN8A SCN2A SCN1A LGI1 KCNT1
50 early infantile epileptic encephalopathy 30.3 SPTAN1 SCN8A SCN2A SCN1A LGI1 KCNT1

Graphical network of the top 20 diseases related to Focal Epilepsy:

Diseases related to Focal Epilepsy

Symptoms & Phenotypes for Focal Epilepsy

UMLS symptoms related to Focal Epilepsy:


MGI Mouse Phenotypes related to Focal Epilepsy:

# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.22 CACNA1H CDKL5 CHRNA4 CHRNB2 CNTNAP2 DEPDC5
2 growth/size/body region MP:0005378 10.13 CACNA1H CHRNB2 CNTNAP2 DEPDC5 GABRG2 GRIN2B
3 mortality/aging MP:0010768 9.97 CHRNA4 CHRNB2 DEPDC5 GABRG2 GRIN2B LGI1
4 nervous system MP:0003631 9.89 CACNA1H CDKL5 CHRNA2 CHRNA4 CHRNB2 CNTNAP2
5 normal MP:0002873 9.23 CHRNA2 CHRNB2 GABRG2 KCNT1 MTOR SCN1A

Drugs & Therapeutics for Focal Epilepsy

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

(show top 50) (show all 106)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
4 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
Levetiracetam Approved Phase 4 102767-28-2 441341
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
Topiramate Approved Phase 4 97240-79-4 5284627
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
Lacosamide Approved Phase 4 175481-36-4, 860352-01-8 219078
Phenobarbital Approved, Investigational Phase 4 50-06-6 4763
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
Vigabatrin Approved Phase 4 68506-86-5, 60643-86-9 5665
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
Probenecid Approved, Investigational Phase 4 57-66-9 4911
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
21 Gastrointestinal Agents Phase 4
22 Anesthetics Phase 4
23 Hypnotics and Sedatives Phase 4
24 Anesthetics, General Phase 4
25 Antiemetics Phase 4
26 GABA Modulators Phase 4
27 Anesthetics, Intravenous Phase 4
28 GABA Agonists Phase 4
29 Antineoplastic Agents, Hormonal Phase 4
30 Methylprednisolone Acetate Phase 4
31 glucocorticoids Phase 4
32 Hormone Antagonists Phase 4
33 Excitatory Amino Acid Antagonists Phase 4
34 Hypoglycemic Agents Phase 4
35 Analgesics, Non-Narcotic Phase 4
36 Anticonvulsants Phase 4
37 Neurotransmitter Agents Phase 4
38 Sodium Channel Blockers Phase 4
39 Hormones Phase 4
40 Psychotropic Drugs Phase 4
41 Anti-Anxiety Agents Phase 4
42 Diuretics, Potassium Sparing Phase 4
43 Analgesics Phase 4
44 Calcium, Dietary Phase 4
45 calcium channel blockers Phase 4
46 Antirheumatic Agents Phase 4
Calcium Nutraceutical Phase 4 7440-70-2 271
tannic acid Approved Phase 3 1401-55-4
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
Naloxone Approved, Vet_approved Phase 3 465-65-6 5284596

Interventional clinical trials:

(show top 50) (show all 256)
# 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 Electroclinical Effect of Diazepam and Steroid in Patients With Benign Childhood Epilepsy With Centrotemporal Spikes Unknown status NCT03490487 Phase 4 conventional antiepileptic drugs;oral steroid;Diazepam
3 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
4 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
5 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
6 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)
7 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
8 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
9 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
10 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
11 Efficacy and Safety of Rapid Titration Protocols of Lacosamide: An Exploratory Study Completed NCT03607851 Phase 4 Lacosamide - conventional titration;Lacosamide - rapid titration 1;Lacosamide - rapid titration 2
12 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
13 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
14 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
15 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
16 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
17 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
18 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
19 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
20 Pharmacovigilance Study of Keppra. SPAIN - SKATE : Safety of Keppra as Adjunctive Therapy in Epilepsy Completed NCT00643500 Phase 4 Levetiracetam
21 A Multicentre, Randomised, Active Comparator, Parallel Group Study To Compare The Effect On Cognition Of Adjunctive Therapy With Zonisamide Versus Sodium Valproate Completed NCT00713622 Phase 4 Zonisamide;Sodium valproate
22 Trial Studying the Safety and Efficacy of Keppra® as Adjunctive Therapy in Adult Patients With Uncontrolled Partial Epilepsy Completed NCT00630968 Phase 4 Levetiracetam (Keppra)
23 Phase IV Study of Cognitive and Behavioral Effects of Lacosamide as Adjunctive Therapy in Patients With Partial Epilepsy Completed NCT01175954 Phase 4 Lacosamide;Lacosamide
24 Transcranial Direct Current Stimulation for Treatment of Childhood Pharmacoresistant Lennox-Gastaut Syndrome, A Pilot Study Completed NCT02731300 Phase 4
26 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 Not yet recruiting 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
27 An Open Prospective Randomised Long-Term Effectiveness Study, Comparing Best Medical Practice With or Without Adjunctive VNS Therapy in Patients 16 Years and Older With Pharmaco-resistant Partial Epilepsy Terminated NCT00522418 Phase 4 Best Medical Practive
28 Pregabalin In Partial Seizures (PREPS): An Open-Label, Multicenter Add On Therapy Trial. A Phase IV Open-Label Trial Using 150,300, 600 mg/Day Of Pregabalin Terminated NCT00407797 Phase 4 Pregabalin
29 An Open Label, Randomized Study Prospectively Examining the Effect on Anxiety in Partial Epilepsy Patients Treated With Pregabalin Terminated NCT01128712 Phase 4 Pregabalin;Pregabalin
30 "Rational Polytherapy" Using Perampanel Dual Therapy Anticonvulsant Combination Treatments of Adults With Refractory Focal Epilepsy : a Pilot Study. Terminated NCT02727101 Phase 4 perampanel
31 Post Marketing Study; Randomized, Parallel-Group Comparison of Treatment With Pharmacotherapy or Adjunctive Vagus Nerve Stimulation Therapy for Pharmacoresistant Partial Seizures: A Large Simple Effectiveness Trial Terminated NCT00215215 Phase 4
32 Sabril for Treatment of Adult Refractory Partial Seizures Symptomatic of Tuberous Sclerosis: An Open Label, Phase IV Prospective Safety and Tolerability Study Terminated NCT01266291 Phase 4 vigabatrin
33 Evaluating Transporter Protein Inhibitors in Patients With Epilepsy Terminated NCT00610532 Phase 4 phenytoin;phenytoin and probenecid
34 A Randomized, Double-Blind, Placebo-Controlled, Crossover Study to Evaluate the Effect of Perampanel on Objective and Subjective Sleep in Subjects With Insomnia and Partial Onset Seizures Withdrawn NCT02220972 Phase 4 Perampanel;Placebo
35 Pregabalin BID Open-Label Add-On Trial: A Follow-Up Study To Determine Long-Term Safety and Efficacy in Patients With Partial Seizures Completed NCT00143143 Phase 3 Pregabalin
36 Multicenter, Open-Label Extension Study to Evaluate the Long-Term Safety and Tolerability of OXC XR as Adjunctive Therapy in Subjects With Refractory Partial Epilepsy Completed NCT00908349 Phase 3 Oxcarbazepine XR
37 A Korean Open-label, Multi-center, Community-based Trial Assessing the Efficacy and Safety of Levetiracetam as Adjunctive Therapy in Adult Subjects With Uncontrolled Partial Epilepsy for Bridging Purpose With a Similar Study on Caucasian Epileptic Subjects Completed NCT00160628 Phase 3 Levetiracetam
38 A Randomized, Comparative, Double-Blind, Parallel-Group, Multicenter, Monotherapy, Study Of Pregabalin (Lyrica) And Lamotrigine (Lamictal) In Patients With Newly Diagnosed Partial Seizures Completed NCT00280059 Phase 3 Pregabalin;Lamotrigine
39 A Double-blind, Placebo-controlled, Randomized Study: 16-week Evaluation of the Efficacy and Safety of Levetiracetam (LEV) as add-on Therapy in Adults and Adolescents Older Than 16 Years Suffering From Partial Seizures. Completed NCT00152373 Phase 3 Levetiracetam
40 Follow-up Study of L059 (Levetiracetam) in Epileptic Patients With Partial Onset Seizures by Open Label Method Completed NCT00160615 Phase 3 Levetiracetam
41 A Multi-Center, Open-Label, Long-Term, Follow-Up Study Of The Safety And Efficacy Of Levetiracetam (Ucb L059) In Children With Epilepsy Completed NCT00150709 Phase 3 Levetiracetam (Keppra)
42 Efficacy and Safety of BIA 2-093 as Adjunctive Therapy for Refractory Partial Seizures in a Double-blind, Randomised, Placebo-controlled, Parallel-group, Multicentre Clinical Trial Completed NCT00957047 Phase 3 eslicarbazepine acetate;placebo;ESL - Part II
43 A Multicenter, Double-Blind, Randomized Conversion to Monotherapy Comparison of Two Doses of Lamotrigine for the Treatment of Partial Seizures Completed NCT00355082 Phase 3 lamotrigine, 300 mg/day;lamotrigine, 250 mg/day
44 Double-Blind, Randomized, Historical Control Study of the Safety and Efficacy of Eslicarbazepine Acetate Monotherapy in Subjects With Partial Epilepsy Not Well Controlled by Current Antiepileptic Drugs Completed NCT00866775 Phase 3 Eslicarbazepine acetate;Eslicarbazepine acetate
45 Double-Blind, Randomized, Historical Control Study of the Safety and Efficacy of Eslicarbazepine Acetate Monotherapy in Subjects With Partial Epilepsy Not Well Controlled by Current Antiepileptic Drugs Completed NCT01091662 Phase 3 Eslicarbazepine acetate 1600 mg;Eslicarbazepine acetate 1200 mg
46 A Phase 3, Randomized, Double-blind, Parallel, Placebo-controlled, Multicenter Study, With Optional Open-label Continuation, Of The Efficacy And Safety Of Vanquix(tm) Auto-injector (Diazepam Injection) For The Management Of Selected, Refractory, Patients With Epilepsy Who Require Intermittent Medical Intervention To Control Episodes Of Acute Repetitive Seizures Completed NCT00319501 Phase 3 Placebo;Vanquix Auto-Injector (Diazepam Injection)
47 Prospective Pilot Study on Metabolism and Weight Changes in Subjects With Diagnosed Partial Onset Epilepsy, With or Without Secondarily Generalized Seizures and Treated With Topiramate. Completed NCT00236886 Phase 3 topiramate
48 A Randomized, Multi-centre, Double-blind Study, to Compare the Efficacy and Safety of Zonisamide and Carbamazepine as Monotherapy, in Newly Diagnosed Partial Epilepsy Completed NCT00477295 Phase 3 Zonisamide;Carbamazepine
49 Efficacy and Safety of BIA 2-093 as Adjunctive Therapy for Refractory Partial Seizures in a Double-blind, Randomized, Placebo-controlled, Parallel-group, Multicenter Clinical Trial Completed NCT00957372 Phase 3 eslicarbazepine acetate;placebo (Part I);ESL - Open-label Extension (Part II)
50 Topiramate (RWJ 17021-000) Clinical Trial In Children With Partial Onset Seizures Completed NCT00236743 Phase 3 topiramate

Search NIH Clinical Center for Focal Epilepsy

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

Clorazepate Dipotassium
gabapentin enacarbil
Phenobarbital Sodium
Tiagabine hydrochloride

Cochrane evidence based reviews: epilepsies, partial

Genetic Tests for Focal Epilepsy

Genetic tests related to Focal Epilepsy:

# Genetic test Affiliating Genes
1 Focal Epilepsy 29

Anatomical Context for Focal Epilepsy

MalaCards organs/tissues related to Focal Epilepsy:

Brain, Temporal Lobe, Cortex, Testes, Amygdala, Thalamus, Heart

Publications for Focal Epilepsy

Articles related to Focal Epilepsy:

(show top 50) (show all 6086)
# Title Authors PMID Year
Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy. 54 61
20133599 2010
The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. 61 54
19577488 2009
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. 54 61
19191227 2009
A novel inherited mutation in the voltage sensor region of SCN1A is associated with Panayiotopoulos syndrome in siblings and generalized epilepsy with febrile seizures plus. 61 54
19339291 2009
Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus. 54 61
18632234 2009
Cortical glucose metabolism correlates negatively with delta-slowing and spike-frequency in epilepsy associated with tuberous sclerosis. 61 54
17948886 2008
Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. 61 54
18711109 2008
Expression profile of Lgi1 gene in mouse brain during development. 61 54
18563303 2008
Evaluation of epileptogenic networks in children with tuberous sclerosis complex using EEG-fMRI. 54 61
18177362 2008
Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy. 61 54
18355961 2008
Focal epilepsy resulting from a de novo SCN1A mutation. 61 54
18330841 2007
A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures. 61 54
17562837 2007
The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface. 54 61
17067999 2006
Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. 54 61
16990550 2006
mGlu1 and mGlu5 receptor antagonists lack anticonvulsant efficacy in rodent models of difficult-to-treat partial epilepsy. 61 54
16563443 2006
Increased expression of LGI1 gene triggers growth inhibition and apoptosis of neuroblastoma cells. 54 61
16518856 2006
Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures. 61 54
16256272 2006
[Episodic ataxias]. 61 54
16100538 2005
ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. 61 54
15857855 2005
Seizure-related short-term plasticity of benzodiazepine receptors in partial epilepsy: a [11C]flumazenil-PET study. 54 61
15758035 2005
Genetics of idiopathic epilepsies. 54 61
15816978 2005
A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. 61 54
15349881 2004
LGI1 mutations in temporal lobe epilepsies. 54 61
15079010 2004
LGI1 mutations in autosomal dominant partial epilepsy with auditory features. 61 54
15079011 2004
Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions. 54 61
12887442 2003
Correlation between GABA(A) receptor density and vagus nerve stimulation in individuals with drug-resistant partial epilepsy. 61 54
12948617 2003
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. 61 54
12771268 2003
Is central benzodiazepine receptor imaging useful for the identification of epileptogenic foci in localization-related epilepsies? 61 54
12552355 2003
alpha-[11C]-Methyl-L-tryptophan PET identifies the epileptogenic tuber and correlates with interictal spike frequency. 54 61
12536053 2003
Epilepsy surgery outcome in children with focal epilepsy due to tuberous sclerosis complex. 54 61
12536368 2002
Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) and IGE. 54 61
11121188 2000
[Benzodiazepine receptor imaging in the brain: recent developments and clinical validity]. 61 54
10390953 1999
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. 61 54
10355668 1999
The localizing value of ictal SPECT in children with tuberous sclerosis complex and refractory partial epilepsy. 61 54
10937131 1999
Idiopathic epilepsies with a monogenic mode of inheritance. 54 61
10446744 1999
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. 54 61
9758605 1998
Asymmetries of benzodiazepine receptor binding potential in the inferior medial temporal lobe and cerebellum detected with 123I-iomazenil SPECT in comparison with 99mTc-HMPAO SPECT in patients with partial epilepsy. 61 54
9795703 1998
Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies. 54 61
9259383 1997
Benzodiazepine receptors in focal epilepsy with cortical dysgenesis: an 11C-flumazenil PET study. 54 61
8773600 1996
Localized cerebellar reductions in benzodiazepine receptor density in human partial epilepsy. 54 61
8929173 1996
L-deprenyl (selegiline) exerts anticonvulsant effects against different seizure types in mice. 54 61
8667204 1996
Evaluation of focal epilepsy: a SPECT scanning comparison of 123-I-iomazenil versus HM-PAO. 61 54
1317662 1992
Benzodiazepine receptors and cerebral blood flow in partial epilepsy. 61 54
1646108 1991
Methylprednisolone pulse therapy in 31 patients with refractory epilepsy: A single-center retrospective analysis. 61
32388139 2020
Phenotypic characterization of COL4A1-related West syndrome. 61
32446163 2020
Functional imaging of the piriform cortex in focal epilepsy. 61
32278645 2020
Cortical excitability measured with transcranial magnetic stimulation in children with epilepsy before and after antiepileptic drugs. 61
32064586 2020
Electroencephalogram alterations associated with psychiatric disorders in temporal lobe epilepsy with mesial sclerosis: A systematic review. 61
32470667 2020
Direct visual targeting versus preset coordinates for ANT-DBS in epilepsy. 61
32078161 2020
Effects of resective epilepsy surgery on the social determinants of health. 61
32302783 2020

Variations for Focal Epilepsy

ClinVar genetic disease variations for Focal Epilepsy:

6 (show all 13) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CDKL5 NM_001323289.2(CDKL5):c.2641C>T (p.Gln881Ter)SNV Pathogenic 375523 rs1057519541 X:18646635-18646635 X:18628515-18628515
2 SCN1A NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys)SNV Pathogenic/Likely pathogenic 68553 rs121917993 2:166850722-166850722 2:165994212-165994212
3 SPTAN1 NM_001130438.3(SPTAN1):c.6899_6907ACCAGCTGG[1] (p.2300_2302DQL[1])short repeat Pathogenic/Likely pathogenic 207380 rs587784440 9:131394540-131394548 9:128632261-128632269
4 NID1 NM_002508.3(NID1):c.3385+1G>ASNV Likely pathogenic 183319 rs730882225 1:236143795-236143795 1:235980495-235980495
5 SCN1A NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His)SNV Likely pathogenic 68559 rs121917994 2:166848815-166848815 2:165992305-165992305
6 MECP2 NM_001110792.2(MECP2):c.951G>T (p.Lys317Asn)SNV Likely pathogenic 375525 rs1057519543 X:153296364-153296364 X:154030913-154030913
7 SNAP25 NM_130811.3(SNAP25):c.142G>T (p.Val48Phe)SNV Likely pathogenic 208672 rs797044873 20:10265399-10265399 20:10284751-10284751
8 SCN2A NM_001040142.2(SCN2A):c.571T>G (p.Trp191Gly)SNV Likely pathogenic 375507 rs1057519525 2:166165270-166165270 2:165308760-165308760
9 KCNT1 NM_020822.3(KCNT1):c.2882G>A (p.Arg961His)SNV Conflicting interpretations of pathogenicity 129360 rs200694691 9:138675910-138675910 9:135784064-135784064
10 SCN8A NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)SNV Conflicting interpretations of pathogenicity 130252 rs587780455 12:52200900-52200900 12:51807116-51807116
11 GRIN2A NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)SNV Conflicting interpretations of pathogenicity 205679 rs145063086 16:9857574-9857574 16:9763717-9763717
12 SCN1A NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser)SNV Uncertain significance 68550 rs121917992 2:166850880-166850880 2:165994370-165994370
13 CACNA1H NM_021098.3(CACNA1H):c.1546C>T (p.His516Tyr)SNV Uncertain significance 375538 rs1057519554 16:1251996-1251996 16:1201996-1201996

Expression for Focal Epilepsy

Search GEO for disease gene expression data for Focal Epilepsy.

Pathways for Focal Epilepsy

Pathways related to Focal Epilepsy according to GeneCards Suite gene sharing:

(show all 12)
# Super pathways Score Top Affiliating Genes
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GO Terms for Focal Epilepsy

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10.38 TSPO SCN8A SCN2A SCN1A KCNT1 GRIN2B
2 membrane GO:0016020 10.36 TSPO SPTAN1 SCN8A SCN2A SCN1A NPRL3
3 integral component of plasma membrane GO:0005887 10.08 SCN2A GRIN2B GRIN2A GABRG2 CHRNB2 CHRNA4
4 synapse GO:0045202 9.97 LGI1 GRIN2B GRIN2A GABRG2 CHRNB2 CHRNA4
5 axon GO:0030424 9.92 SCN8A SCN2A SCN1A GABRG2 CNTNAP2
6 lysosome GO:0005764 9.91 NPRL3 NPRL2 MTOR GRIN2B DEPDC5
7 lysosomal membrane GO:0005765 9.89 NPRL3 NPRL2 MTOR DEPDC5
8 glutamatergic synapse GO:0098978 9.89 SCN2A MTOR LGI1 GRIN2A CDKL5
9 neuron projection GO:0043005 9.87 GRIN2B GRIN2A GABRG2 CHRNB2 CHRNA4 CHRNA2
10 integral component of presynaptic membrane GO:0099056 9.72 SCN2A CHRNB2 CHRNA4
11 acetylcholine-gated channel complex GO:0005892 9.63 CHRNB2 CHRNA4 CHRNA2
12 postsynaptic membrane GO:0045211 9.63 GRIN2B GRIN2A GABRG2 CHRNB2 CHRNA4 CHRNA2
13 node of Ranvier GO:0033268 9.61 SCN8A SCN2A SCN1A
14 cell junction GO:0030054 9.61 SCN8A LGI1 GRIN2B GRIN2A GABRG2 CNTNAP2
15 axon initial segment GO:0043194 9.58 SCN8A SCN1A
16 dopaminergic synapse GO:0098691 9.58 CHRNB2 CHRNA4
17 NMDA selective glutamate receptor complex GO:0017146 9.56 GRIN2B GRIN2A
18 sodium channel complex GO:0034706 9.54 SCN2A SCN1A
19 GATOR1 complex GO:1990130 9.43 NPRL3 NPRL2 DEPDC5
20 voltage-gated sodium channel complex GO:0001518 8.92 SCN8A SCN2A SCN1A CACNA1H

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.94 MTOR GRIN2B GRIN2A CNTNAP2
2 chemical synaptic transmission GO:0007268 9.91 GRIN2B GRIN2A GABRG2 CHRNB2 CHRNA4 CHRNA2
3 regulation of ion transmembrane transport GO:0034765 9.88 SCN8A SCN2A SCN1A CACNA1H
4 calcium ion transport GO:0006816 9.86 GRIN2A CHRNB2 CHRNA4 CACNA1H
5 response to ethanol GO:0045471 9.83 GRIN2B GRIN2A CHRNB2
6 memory GO:0007613 9.81 SCN2A GRIN2A CHRNB2
7 learning GO:0007612 9.8 GRIN2A CNTNAP2 CHRNB2
8 sodium ion transmembrane transport GO:0035725 9.8 SCN8A SCN2A SCN1A CACNA1H
9 nervous system process GO:0050877 9.78 GABRG2 CHRNB2 CHRNA4 CHRNA2
10 sensory perception of pain GO:0019233 9.77 GRIN2A CHRNB2 CHRNA4
11 social behavior GO:0035176 9.77 MTOR CNTNAP2 CHRNB2
12 excitatory postsynaptic potential GO:0060079 9.77 GRIN2B GRIN2A CHRNB2 CHRNA4 CHRNA2
13 visual learning GO:0008542 9.76 MTOR GRIN2A CHRNB2
14 cellular response to amino acid starvation GO:0034198 9.76 NPRL3 NPRL2 MTOR DEPDC5
15 response to nicotine GO:0035094 9.74 CHRNB2 CHRNA4 CHRNA2
16 neuromuscular synaptic transmission GO:0007274 9.72 CHRNB2 CHRNA4 CHRNA2
17 negative regulation of TOR signaling GO:0032007 9.71 NPRL3 NPRL2 DEPDC5
18 neuronal action potential GO:0019228 9.71 SCN8A SCN2A SCN1A CACNA1H
19 synaptic transmission, cholinergic GO:0007271 9.7 CHRNB2 CHRNA4 CHRNA2
20 regulation of membrane potential GO:0042391 9.7 SCN1A GRIN2A GABRG2 CHRNB2 CHRNA4 CHRNA2
21 action potential GO:0001508 9.69 SCN1A CHRNB2 CHRNA4
22 positive regulation of glial cell proliferation GO:0060252 9.66 TSPO MTOR
23 glutamate receptor signaling pathway GO:0007215 9.65 GRIN2B GRIN2A
24 regulation of autophagosome assembly GO:2000785 9.65 NPRL3 NPRL2
25 regulation of postsynaptic membrane potential GO:0060078 9.65 GRIN2A GABRG2 CHRNB2 CHRNA4 CHRNA2
26 acetylcholine receptor signaling pathway GO:0095500 9.63 CHRNB2 CHRNA4
27 excitatory chemical synaptic transmission GO:0098976 9.63 GRIN2B GRIN2A
28 TORC1 signaling GO:0038202 9.62 NPRL3 MTOR
29 membrane depolarization during action potential GO:0086010 9.62 SCN8A SCN2A SCN1A CACNA1H
30 calcium ion transmembrane import into cytosol GO:0097553 9.61 GRIN2B GRIN2A
31 behavioral response to nicotine GO:0035095 9.61 CHRNB2 CHRNA4
32 ion transmembrane transport GO:0034220 9.61 SCN8A SCN2A SCN1A GRIN2A GABRG2 CHRNB2
33 ion transport GO:0006811 9.4 TSPO SCN8A SCN2A SCN1A KCNT1 GRIN2B

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.81 SCN8A SCN2A SCN1A CACNA1H
2 neurotransmitter receptor activity GO:0030594 9.78 GABRG2 CHRNB2 CHRNA4 CHRNA2
3 sodium channel activity GO:0005272 9.67 SCN8A SCN2A SCN1A
4 extracellular ligand-gated ion channel activity GO:0005230 9.67 GABRG2 CHRNB2 CHRNA4 CHRNA2
5 acetylcholine binding GO:0042166 9.63 CHRNB2 CHRNA4 CHRNA2
6 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.62 GRIN2B GRIN2A GABRG2 CHRNB2
7 acetylcholine-gated cation-selective channel activity GO:0022848 9.61 CHRNB2 CHRNA4 CHRNA2
8 acetylcholine receptor activity GO:0015464 9.58 CHRNB2 CHRNA4 CHRNA2
9 ionotropic glutamate receptor activity GO:0004970 9.56 GRIN2B GRIN2A
10 ligand-gated ion channel activity GO:0015276 9.56 GRIN2B GRIN2A CHRNB2 CHRNA4
11 benzodiazepine receptor activity GO:0008503 9.55 TSPO GABRG2
12 NMDA glutamate receptor activity GO:0004972 9.54 GRIN2B GRIN2A
13 glutamate-gated calcium ion channel activity GO:0022849 9.52 GRIN2B GRIN2A
14 voltage-gated sodium channel activity GO:0005248 9.46 SCN8A SCN2A SCN1A CACNA1H
15 cation channel activity GO:0005261 9.35 SCN8A SCN2A SCN1A GRIN2A CACNA1H
16 ion channel activity GO:0005216 9.32 SCN8A SCN2A SCN1A GRIN2B GRIN2A GABRG2

Sources for Focal Epilepsy

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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