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MCID: FCL014
MIFTS: 53

Focal Epilepsy

Categories: Neuronal diseases
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Aliases & Classifications for Focal Epilepsy

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MalaCards integrated aliases for Focal Epilepsy:

Name: Focal Epilepsy 11 28 5 14
Partial Epilepsy 11 14 16
Epilepsies, Partial 43 71
Localisation-Related Epilepsy 11

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 11 DOID:2234
MeSH 43 D004828
NCIt 49 C122812
SNOMED-CT 68 230381009
UMLS 71 C0014547
Sources

Summaries for Focal Epilepsy

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Disease Ontology: 11 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 epilepsy, familial temporal lobe, 1, and has symptoms including seizures An important gene associated with Focal Epilepsy is CDKL5 (Cyclin Dependent Kinase Like 5), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Gabapentin and Oxcarbazepine have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and thalamus, and related phenotypes are nervous system and behavior/neurological
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Related Diseases for Focal Epilepsy

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

(show top 50) (show all 510)
# Related Disease Score Top Affiliating Genes
1 epilepsy, familial focal, with variable foci 1 33.2 NPRL2 DEPDC5
2 epilepsy, familial temporal lobe, 1 32.8 SCN1A LGI1 GABRG2 DEPDC5 CHRNB2 CHRNA4
3 pitt-hopkins-like syndrome 1 32.6 MECP2 CDKL5
4 epilepsy, focal, with speech disorder and with or without impaired intellectual development 32.3 GRIN2A DEPDC5
5 epilepsy, nocturnal frontal lobe, 2 32.1 CHRNB2 CHRNA4
6 developmental and epileptic encephalopathy 1 32.1 SCN8A SCN1A CDKL5
7 febrile seizures, familial, 11 32.0 SCN1A GABRG2 GABRD
8 epilepsy 31.4 TSPO TSC1 SCN8A SCN2A SCN1A NPRL2
9 status epilepticus 31.2 TSPO SCN1A LGI1
10 febrile seizures 31.1 SCN8A SCN2A SCN1A GABRG2 GABRD
11 encephalopathy 30.9 SPTAN1 SCN1A MECP2 CDKL5
12 hemimegalencephaly 30.8 SCN1A DEPDC5
13 anxiety 30.6 TSPO MECP2 GRIN2A GABRG2
14 continuous spike-wave during slow sleep syndrome 30.5 GRIN2A DEPDC5
15 autosomal dominant epilepsy with auditory features 30.5 LGI1 DEPDC5
16 brugada syndrome 30.5 SCN8A SCN2A SCN1A KCNT1
17 amnestic disorder 30.4 TSPO LGI1 GRIN2A
18 episodic kinesigenic dyskinesia 1 30.4 SNAP25 SCN2A CHRNA4
19 juvenile absence epilepsy 30.4 SCN1A GABRG2 GABRD CHRNA4
20 early myoclonic encephalopathy 30.4 SCN8A SCN2A SCN1A MECP2 LGI1 KCNT1
21 landau-kleffner syndrome 30.3 SCN2A SCN1A GRIN2A GABRG2 CDKL5
22 ohtahara syndrome 30.3 SPTAN1 SNAP25 SCN8A SCN2A SCN1A CDKL5
23 lennox-gastaut syndrome 30.3 SCN8A SCN2A SCN1A MECP2 KCNT1 GRIN2A
24 migraine with or without aura 1 30.3 SNAP25 SCN8A SCN2A SCN1A GRIN2A
25 attention deficit-hyperactivity disorder 30.3 SNAP25 SCN8A SCN2A SCN1A MECP2 GRIN2A
26 benign epilepsy with centrotemporal spikes 30.3 SPTAN1 SCN8A SCN2A SCN1A NPRL2 MECP2
27 sturge-weber syndrome 30.2 SCN1A DEPDC5 CDKL5
28 epilepsy, idiopathic generalized 30.2 TSPO SCN8A SCN2A SCN1A LGI1 KCNT1
29 autism spectrum disorder 30.2 TSPO TSC1 SNAP25 SCN2A SCN1A MECP2
30 reflex epilepsy 30.2 SCN2A SCN1A LGI1 GABRG2 CHRNB2 CHRNA4
31 epilepsy, myoclonic juvenile 30.2 SCN8A SCN2A SCN1A LGI1 KCNT1 GABRG2
32 benign neonatal seizures 30.2 SCN8A SCN2A SCN1A KCNT1 CHRNB2 CHRNA4
33 progressive familial heart block, type ia 30.2 SCN8A SCN1A
34 benign familial neonatal epilepsy 30.2 SCN8A SCN2A SCN1A KCNT1 GABRG2 CHRNA4
35 developmental and epileptic encephalopathy 14 30.1 SCN8A SCN2A SCN1A MECP2 KCNT1 DEPDC5
36 dravet syndrome 30.1 SCN8A SCN2A SCN1A MECP2 LGI1 KCNT1
37 angelman syndrome 30.1 TSPO MECP2 GABRG2 GABRD CDKL5
38 fragile x syndrome 30.1 TSC1 MECP2 GRIN2A GABRG2 GABRD
39 childhood absence epilepsy 30.0 TSPO SCN8A SCN2A SCN1A MECP2 LGI1
40 episodic ataxia 30.0 SNAP25 SCN8A SCN2A SCN1A LGI1
41 pervasive developmental disorder 30.0 TSC1 SCN2A SCN1A MECP2 GRIN2A CDKL5
42 early infantile epileptic encephalopathy 30.0 SPTAN1 SNAP25 SCN8A SCN2A SCN1A MECP2
43 west syndrome 30.0 TSC1 SPTAN1 SNAP25 SCN8A SCN2A SCN1A
44 epilepsy with generalized tonic-clonic seizures 30.0 SNAP25 SCN8A SCN2A SCN1A GABRG2 GABRD
45 generalized epilepsy with febrile seizures plus 29.9 SCN8A SCN2A SCN1A LGI1 KCNT1 GRIN2A
46 photosensitive epilepsy 29.9 SCN2A SCN1A LGI1 KCNT1 GABRG2 GABRD
47 developmental and epileptic encephalopathy 29.8 SPTAN1 SNAP25 SCN8A SCN2A SCN1A MECP2
48 autosomal dominant nocturnal frontal lobe epilepsy 29.7 SCN8A SCN2A SCN1A NPRL2 LGI1 KCNT1
49 autism 29.7 TSPO TSC1 SNAP25 SCN8A SCN2A SCN1A
50 benign familial infantile epilepsy 29.7 SNAP25 SCN8A SCN2A SCN1A KCNT1 GABRG2

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



Diseases related to Focal Epilepsy
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Symptoms & Phenotypes for Focal Epilepsy

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UMLS symptoms related to Focal Epilepsy:


seizures

MGI Mouse Phenotypes related to Focal Epilepsy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.32 CDKL5 CHRNA2 CHRNA4 CHRNB2 DEPDC5 GABRD
2 behavior/neurological MP:0005386 10.19 CDKL5 CHRNA4 CHRNB2 DEPDC5 GABRD GABRG2
3 growth/size/body region MP:0005378 10.13 CHRNB2 DEPDC5 GABRG2 LGI1 MECP2 NPRL2
4 normal MP:0002873 10.06 CHRNA2 CHRNB2 GABRG2 KCNT1 MECP2 SCN1A
5 respiratory system MP:0005388 9.7 CHRNB2 MECP2 SCN1A SCN2A SCN8A SNAP25
6 vision/eye MP:0005391 9.65 CDKL5 CHRNB2 KCNT1 LGI1 MECP2 NID1
7 mortality/aging MP:0010768 9.5 CHRNA4 CHRNB2 DEPDC5 GABRD GABRG2 KCNT1
Sources

Drugs & Therapeutics for Focal Epilepsy

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

(show top 50) (show all 97)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
2
Oxcarbazepine Approved Phase 4 28721-07-5 34312
3
Stiripentol Approved Phase 4 49763-96-4 5311454
4
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
5
Levetiracetam Approved Phase 4 102767-28-2 441341 5284583
6
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
7
Pregabalin Approved, Investigational Phase 4 148553-50-8 5486971
8
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
9
Topiramate Approved Phase 4 97240-79-4 5284627
10
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
11
Eslicarbazepine acetate Approved Phase 4 236395-14-5 179344
12
Lacosamide Approved Phase 4 175481-36-4 21634109 219078
13
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
14
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
15
Phenobarbital Approved, Investigational Phase 4 50-06-6 4763
16 GABA Agonists Phase 4
17 Excitatory Amino Acid Antagonists Phase 4
18 Hypoglycemic Agents Phase 4
19 GABA Modulators Phase 4
20 Antiemetics Phase 4
21 Anesthetics, Intravenous Phase 4
22 Anesthetics, General Phase 4
23 Anesthetics Phase 4
24 Hypnotics and Sedatives Phase 4
25 Gastrointestinal Agents Phase 4
26 Hormones Phase 4
27 Anti-Anxiety Agents Phase 4
28 Psychotropic Drugs Phase 4
29 Calcium, Dietary Phase 4
30 calcium channel blockers Phase 4
31 Analgesics Phase 4
32
Calcium Nutraceutical Phase 4 7440-70-2 271
33
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
34
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
35
Cenobamate Approved, Investigational Phase 3 913088-80-9 11962412
36
Carbamazepine Approved, Investigational Phase 3 298-46-4 2554
37
Aspartic acid Approved, Nutraceutical Phase 3 56-84-8 5960
38 Pharmaceutical Solutions Phase 3
39 N-Methylaspartate Phase 3
40 Antipsychotic Agents Phase 3
41 Sodium Channel Blockers Phase 3
42 Neurotransmitter Agents Phase 3
43 Anticonvulsants Phase 3
44 Nootropic Agents Phase 3
45 Diuretics, Potassium Sparing Phase 3
46
D-Leucine Experimental, Investigational, Nutraceutical Phase 3 328-38-1, 61-90-5 439524 6106
47
Brivaracetam Approved, Investigational Phase 2 357336-20-0 9834332 9837243
48
Natalizumab Approved, Investigational Phase 2 189261-10-7
49
Ganaxolone Approved, Investigational Phase 2 38398-32-2 22023730 6918305
50
Nifedipine Approved Phase 2 21829-25-4 4485

Interventional clinical trials:

(show top 50) (show all 230)
# 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 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
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 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
5 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
6 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
7 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
8 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)
9 Trial Studying the Safety and Efficacy of Keppra® as Adjunctive Therapy in Adult Patients With Uncontrolled Partial Epilepsy Completed NCT00630968 Phase 4 Levetiracetam (Keppra)
10 A Phase IV, Open-label, Multi-center, Community-based Trial in Asia Studying the Safety and Efficacy of Keppraâ„¢ as Adjunctive Therapy in Adult Subjects With Uncontrolled Partial Epilepsy. Completed NCT00160654 Phase 4 Levetiracetam
11 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
12 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
13 Phase IV Study of Cognitive and Behavioral Effects of Lacosamide as Adjunctive Therapy in Patients With Partial Epilepsy Completed NCT01175954 Phase 4 Lacosamide
14 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
15 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
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 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
18 Pharmacovigilance Study of Keppra. SPAIN - SKATE : Safety of Keppra as Adjunctive Therapy in Epilepsy Completed NCT00643500 Phase 4 Levetiracetam
19 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
20 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
21 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
22 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
23 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
24 A Phase IV, Prospective, Open-Label, Parallel Study Evaluating the Effect of an Adjunctive Anti-Seizure Medication Using a Glutamatergic Modulator in Patients With Focal Epilepsy and High-Grade Glioma Recruiting NCT04650204 Phase 4 Anticonvulsant Agent;Perampanel
25 Study of the Interest of the Combination of Stiripentol (Diacomit®) and Carbamazepine in the Treatment of Patients With Pharmacoresistant Focal Epilepsies Recruiting NCT05419180 Phase 4 Stiripentol
26 Exploratory Open-Label Study of Effects on Responsive Neurostimulator Activity After Intranasal Administration of Single Dose of Valtoco® to People With Epilepsy Not yet recruiting NCT05273398 Phase 4 nasal diazepam
27 "Rational Polytherapy" Using Perampanel Dual Therapy Anticonvulsant Combination Treatments of Adults With Refractory Focal Epilepsy : a Pilot Study. Terminated NCT02727101 Phase 4 perampanel
28 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
29 An Open Label, Randomized Study Prospectively Examining the Effect on Anxiety in Partial Epilepsy Patients Treated With Pregabalin Terminated NCT01128712 Phase 4 Pregabalin
30 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
31 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
32 A Double-blind, Phase III, Multicenter, Randomized, Placebo-controlled Study to Evaluate the Efficacy and Safety of Levetiracetam as Adjunctive Therapy, in Partial Seizures Control Associated With Refractory Focal Epilepsy Completed NCT01392768 Phase 3 Levetiracetam;Placebo
33 Clinical and Medico-economical Assessment of Deep Brain Stimulation of the Anterior Nucleus of the Thalamus for the Treatment of Pharmacoresistant Partial Epilepsy Completed NCT02076698 Phase 3 Usual treatment
34 Efficacy and Safety of Eslicarbazepine Acetate (BIA 2-093) as Adjunctive Therapy for Refractory Partial Seizures in a Double-blind, Randomised, Placebo-controlled, Parallel-group, Multicentre Clinical Trial. Completed NCT00957684 Phase 3 eslicarbazepine acetate;placebo
35 Efficacy and Safety of Eslicarbazepine Acetate (BIA 2-093) as Adjunctive Therapy for Refractory Partial Seizures in a Double-blind, Randomised, Placebo-controlled, Parallel-group, Multicentre Trial Completed NCT00988429 Phase 3 800 mg QD Eslicarbazepine acetate;1200 mg QD Eslicarbazepine acetate;Placebo
36 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)
37 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
38 An Open Label, Multicenter, Safety and Pharmacokinetic Study of YKP3089 as Adjunctive Therapy in Subjects With Partial Onset Seizures Completed NCT02535091 Phase 3 YKP3089
39 Efficacy and Safety Study of Eslicarbazepine Acetate (BIA 2 093) as Adjunctive Therapy for Refractory Partial Seizures in Children Completed NCT00988156 Phase 3 Eslicarbazepine acetate (BIA 2-093);Eslicarbazepine acetate
40 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
41 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
42 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
43 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
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 NCT01091662 Phase 3 Eslicarbazepine acetate 1600 mg;Eslicarbazepine acetate 1200 mg
45 Pregabalin BID Add-on Trial: a Randomized, Double-Blind, Placebo-Controlled Parallel-Group Single-Center Sleep EEG Study in Patients With Partial Seizures and Sleep Disturbance Part B: a Randomized, Double-Blind, Placebo-Controlled Parallel-Group Study of Pregabalin Add-on Treatment Completed NCT00643136 Phase 3 Pregabalin;Placebo
46 Phase III Study to Evaluate the Efficacy and Safety of OXC XR as Adjunctive Therapy in Subjects With Refractory Partial Seizures Completed NCT00772603 Phase 3 Placebo;2400mg SPN-804;1200mg SPN-804
47 A 12-month Open-label Extension Study Evaluating The Safety And Tolerability Of Flexible Doses Of Pregabalin In Pediatric Patients With Partial Onset Seizures Completed NCT00448916 Phase 3 Pregabalin
48 A Multicenter, Rater-blind, Randomized, Age-stratified, Parallel-group Study Comparing Two Doses of Oxcarbazepine as Adjunctive Therapy in Pediatric Patients With Inadequately-controlled Partial Seizures. Completed NCT00050934 Phase 3 oxcarbazepine
49 A Multicenter, Open-label Trial to Investigate the Safety and Tolerability of Intravenous SPM 927 as Replacement for Oral SPM 927 in Subjects With Partial Seizures With or Without Secondary Generalization. Completed NCT00151879 Phase 2, Phase 3 SPM 927
50 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

Search NIH Clinical Center for Focal Epilepsy

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


clorazepate
Clorazepate Dipotassium
ezogabine
gabapentin
gabapentin enacarbil
lamotrigine
Levetiracetam
Lorazepam
Oxazepam
oxcarbazepine
Phenobarbital
Phenobarbital Sodium
Prazepam
tiagabine
Tiagabine hydrochloride
topiramate
zonisamide

Cochrane evidence based reviews: epilepsies, partial

Sources

Genetic Tests for Focal Epilepsy

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Genetic tests related to Focal Epilepsy:

# Genetic test Affiliating Genes
1 Focal Epilepsy 28
Sources

Anatomical Context for Focal Epilepsy

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Organs/tissues related to Focal Epilepsy:

MalaCards : Brain, Temporal Lobe, Thalamus, Cortex, Amygdala, Parietal Lobe, Occipital Lobe
Sources

Publications for Focal Epilepsy

About this section

Articles related to Focal Epilepsy:

(show top 50) (show all 7113)
# Title Authors PMID Year
1
Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy. 53 62
20133599 2010
2
The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. 53 62
19577488 2009
3
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. 53 62
19191227 2009
4
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. 53 62
19339291 2009
5
Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus. 53 62
18632234 2009
6
Cortical glucose metabolism correlates negatively with delta-slowing and spike-frequency in epilepsy associated with tuberous sclerosis. 53 62
17948886 2008
7
Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. 53 62
18711109 2008
8
Expression profile of Lgi1 gene in mouse brain during development. 53 62
18563303 2008
9
Evaluation of epileptogenic networks in children with tuberous sclerosis complex using EEG-fMRI. 53 62
18177362 2008
10
Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy. 53 62
18355961 2008
11
Focal epilepsy resulting from a de novo SCN1A mutation. 53 62
18330841 2007
12
A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures. 53 62
17562837 2007
13
The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface. 53 62
17067999 2006
14
Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. 53 62
16990550 2006
15
Increased expression of LGI1 gene triggers growth inhibition and apoptosis of neuroblastoma cells. 53 62
16518856 2006
16
mGlu1 and mGlu5 receptor antagonists lack anticonvulsant efficacy in rodent models of difficult-to-treat partial epilepsy. 53 62
16563443 2006
17
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. 53 62
16256272 2006
18
[Episodic ataxias]. 53 62
16100538 2005
19
ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. 53 62
15857855 2005
20
Seizure-related short-term plasticity of benzodiazepine receptors in partial epilepsy: a [11C]flumazenil-PET study. 53 62
15758035 2005
21
Genetics of idiopathic epilepsies. 53 62
15816978 2005
22
A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. 53 62
15349881 2004
23
LGI1 mutations in temporal lobe epilepsies. 53 62
15079010 2004
24
LGI1 mutations in autosomal dominant partial epilepsy with auditory features. 53 62
15079011 2004
25
Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions. 53 62
12887442 2003
26
Correlation between GABA(A) receptor density and vagus nerve stimulation in individuals with drug-resistant partial epilepsy. 53 62
12948617 2003
27
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. 53 62
12771268 2003
28
Is central benzodiazepine receptor imaging useful for the identification of epileptogenic foci in localization-related epilepsies? 53 62
12552355 2003
29
alpha-[11C]-Methyl-L-tryptophan PET identifies the epileptogenic tuber and correlates with interictal spike frequency. 53 62
12536053 2003
30
Epilepsy surgery outcome in children with focal epilepsy due to tuberous sclerosis complex. 53 62
12536368 2002
31
Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) and IGE. 53 62
11121188 2000
32
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. 53 62
10355668 1999
33
[Benzodiazepine receptor imaging in the brain: recent developments and clinical validity]. 53 62
10390953 1999
34
The localizing value of ictal SPECT in children with tuberous sclerosis complex and refractory partial epilepsy. 53 62
10937131 1999
35
Idiopathic epilepsies with a monogenic mode of inheritance. 53 62
10446744 1999
36
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. 53 62
9758605 1998
37
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. 53 62
9795703 1998
38
Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies. 53 62
9259383 1997
39
Benzodiazepine receptors in focal epilepsy with cortical dysgenesis: an 11C-flumazenil PET study. 53 62
8773600 1996
40
Localized cerebellar reductions in benzodiazepine receptor density in human partial epilepsy. 53 62
8929173 1996
41
L-deprenyl (selegiline) exerts anticonvulsant effects against different seizure types in mice. 53 62
8667204 1996
42
Evaluation of focal epilepsy: a SPECT scanning comparison of 123-I-iomazenil versus HM-PAO. 53 62
1317662 1992
43
Benzodiazepine receptors and cerebral blood flow in partial epilepsy. 53 62
1646108 1991
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MicroRNAs as potential biomarkers in temporal lobe epilepsy and mesial temporal lobe epilepsy. 62
36204827 2023
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Deep brain stimulation of the anterior nuclei of the thalamus in focal epilepsy. 62
36193600 2022
46
Yield and risk associated with prolonged presurgical video-EEG monitoring: a systematic review 62
36039766 2022
47
"Generalized-to-focal" epilepsy: stereotactic EEG and high-frequency oscillation patterns 62
36190316 2022
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Brivaracetam as Early Add-On Treatment in Patients with Focal Seizures: A Retrospective, Multicenter, Real-World Study. 62
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Efficacy and safety of adjunctive padsevonil in adults with drug-resistant focal epilepsy: Results from two double-blind, randomized, placebo-controlled trials. 62
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Centromedian thalamic deep brain stimulation for drug-resistant epilepsy: single-center experience. 62
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Sources

Variations for Focal Epilepsy

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ClinVar genetic disease variations for Focal Epilepsy:

5 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDKL5 NM_001323289.2(CDKL5):c.2641C>T (p.Gln881Ter) SNV Pathogenic
 375523 rs1057519541 GRCh37: X:18646635-18646635
GRCh38: X:18628515-18628515
2 SCN8A NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) SNV Likely Pathogenic
 130252 rs587780455 GRCh37: 12:52200900-52200900
GRCh38: 12:51807116-51807116
3 MECP2 NM_001110792.2(MECP2):c.951G>T (p.Lys317Asn) SNV Likely Pathogenic
 375525 rs1057519543 GRCh37: X:153296364-153296364
GRCh38: X:154030913-154030913
4 SCN2A NM_001040142.2(SCN2A):c.571T>G (p.Trp191Gly) SNV Likely Pathogenic
 375507 rs1057519525 GRCh37: 2:166165270-166165270
GRCh38: 2:165308760-165308760
5 SNAP25 NM_130811.4(SNAP25):c.142G>T (p.Val48Phe) SNV Likely Pathogenic
 208672 rs797044873 GRCh37: 20:10265399-10265399
GRCh38: 20:10284751-10284751
6 SPTAN1 NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[1] (p.2300DQL[1]) MICROSAT Likely Pathogenic
 207380 rs587784440 GRCh37: 9:131394540-131394548
GRCh38: 9:128632261-128632269
7 NID1 NM_002508.3(NID1):c.3385+1G>A SNV Likely Pathogenic
 183319 rs730882225 GRCh37: 1:236143795-236143795
GRCh38: 1:235980495-235980495
8 GRIN2A NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) SNV Uncertain Significance
 205679 rs145063086 GRCh37: 16:9857574-9857574
GRCh38: 16:9763717-9763717
9 KCNT1 NM_020822.3(KCNT1):c.2882G>A (p.Arg961His) SNV Uncertain Significance
 129360 rs200694691 GRCh37: 9:138675910-138675910
GRCh38: 9:135784064-135784064
10 CACNA1H NM_021098.3(CACNA1H):c.1546C>T (p.His516Tyr) SNV Uncertain Significance
 375538 rs1057519554 GRCh37: 16:1251996-1251996
GRCh38: 16:1201996-1201996
11 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His) SNV Not Provided
 68559 rs121917994 GRCh37: 2:166848815-166848815
GRCh38: 2:165992305-165992305
12 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.4786C>T (p.Arg1596Cys) SNV Not Provided
 68553 rs121917993 GRCh37: 2:166850722-166850722
GRCh38: 2:165994212-165994212
13 SCN1A, LOC102724058 NM_001165963.4(SCN1A):c.4628T>C (p.Phe1543Ser) SNV Not Provided
 68550 rs121917992 GRCh37: 2:166850880-166850880
GRCh38: 2:165994370-165994370
Sources

Expression for Focal Epilepsy

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Search GEO for disease gene expression data for Focal Epilepsy.
Sources

Pathways for Focal Epilepsy

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

(show all 13)
# Super pathways Score Top Affiliating Genes
1
Transmission across Chemical Synapses 66
Show member pathways
 12.92 SNAP25 GRIN2A GABRG2 CHRNB2 CHRNA4 CHRNA2
2
Neuropathic Pain-Signaling in Dorsal Horn Neurons 64
Show member pathways
 12.39 SCN8A SCN2A SCN1A KCNT1 GRIN2A
3
Neuroscience 3
12.27 SNAP25 SCN8A SCN2A SCN1A MECP2 GRIN2A
4
L1CAM interactions 66
Show member pathways
 12.01 SPTAN1 SCN8A SCN2A SCN1A
5
Sudden infant death syndrome (SIDS) susceptibility pathways 74
11.87 CHRNA4 CHRNB2 MECP2 SNAP25
6
Fragile X syndrome 74
Show member pathways
 11.65 TSC1 MECP2 GRIN2A GABRG2 GABRD
7
Postsynaptic nicotinic acetylcholine receptors 66
Show member pathways
 11.5 CHRNB2 CHRNA4 CHRNA2
8
Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics 60
Show member pathways
 11.47 SNAP25 CHRNB2 CHRNA4
9
Phase 0 - rapid depolarisation 66
11.03 SCN8A SCN2A SCN1A
10
Rett syndrome causing genes 74
10.85 SCN8A SCN2A SCN1A MECP2 GRIN2A GABRD
11
Benzodiazepine Pathway, Pharmacodynamics 60
Show member pathways
 10.78 TSPO GABRG2
12
Interaction between L1 and Ankyrins 66
10.75 SPTAN1 SCN8A SCN2A SCN1A
13
Synaptic Neurotransmission: GABAergic Inhibition 65
10.74 GABRG2 GABRD
Sources

GO Terms for Focal Epilepsy

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.74 CHRNA2 CHRNA4 CHRNB2 DEPDC5 GABRD GABRG2
2 membrane GO:0016021 10.74 CHRNA2 CHRNA4 CHRNB2 DEPDC5 GABRD GABRG2
3 plasma membrane GO:0005886 10.57 SCN2A GRIN2A GABRG2 GABRD CHRNB2 CHRNA4
4 plasma membrane GO:0005887 10.57 SCN2A GRIN2A GABRG2 GABRD CHRNB2 CHRNA4
5 axon GO:0030424 10.24 SNAP25 SCN8A SCN2A SCN1A GABRG2 GABRD
6 glutamatergic synapse GO:0098978 10.21 SNAP25 SCN2A LGI1 GRIN2A GABRG2 CDKL5
7 postsynapse GO:0098794 10.08 GABRG2 GRIN2A MECP2 SNAP25
8 neuron projection GO:0043005 9.97 SNAP25 GRIN2A GABRG2 GABRD CHRNB2 CHRNA4
9 presynaptic membrane GO:0042734 9.95 CHRNB2 GRIN2A SCN2A SNAP25
10 voltage-gated sodium channel complex GO:0001518 9.88 SCN1A SCN2A SCN8A
11 cellular anatomical entity GO:0110165 9.85 NID1 GRIN2A CHRNB2 CHRNA4 CHRNA2
12 node of Ranvier GO:0033268 9.85 SCN8A SCN2A SCN1A
13 GATOR1 complex GO:1990130 9.83 NPRL2 DEPDC5
14 acetylcholine-gated channel complex GO:0005892 9.8 CHRNB2 CHRNA4 CHRNA2
15 sodium channel complex GO:0034706 9.73 SCN2A SCN1A
16 anchoring junction GO:0070161 9.73 CHRNA2 CHRNA4 CHRNB2 GABRD GABRG2 GRIN2A
17 postsynaptic membrane GO:0045211 9.65 GRIN2A GABRG2 GABRD CHRNB2 CHRNA4 CHRNA2
18 synapse GO:0045202 9.47 SNAP25 MECP2 LGI1 GRIN2A GABRG2 GABRD

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 10.24 CHRNA2 CHRNA4 CHRNB2 GABRD GABRG2 GRIN2A
2 nervous system process GO:0050877 10.1 GABRG2 GABRD CHRNB2 CHRNA4 CHRNA2
3 regulation of membrane potential GO:0042391 10.1 SCN1A GRIN2A GABRG2 GABRD CHRNB2 CHRNA4
4 long-term synaptic potentiation GO:0060291 10.09 SNAP25 MECP2 GRIN2A
5 sensory perception of pain GO:0019233 10.08 MECP2 GRIN2A CHRNB2 CHRNA4
6 myelination GO:0042552 10.07 TSC1 SCN8A SCN2A
7 memory GO:0007613 10.07 SCN2A MECP2 GRIN2A CHRNB2
8 visual learning GO:0008542 10.05 MECP2 GRIN2A CHRNB2
9 response to nicotine GO:0035094 10.04 CHRNB2 CHRNA4 CHRNA2
10 neuronal action potential GO:0019228 10.03 SCN8A SCN2A SCN1A
11 negative regulation of TOR signaling GO:0032007 10.02 DEPDC5 NPRL2 TSC1
12 synaptic transmission, cholinergic GO:0007271 10.01 CHRNB2 CHRNA4 CHRNA2
13 associative learning GO:0008306 10 TSC1 SNAP25 MECP2 CHRNB2
14 excitatory postsynaptic potential GO:0060079 10 MECP2 GRIN2A GABRG2 GABRD CHRNB2 CHRNA4
15 membrane depolarization during action potential GO:0086010 9.97 SCN1A SCN2A SCN8A
16 chloride transport GO:0006821 9.91 TSPO GABRG2 GABRD
17 monoatomic cation transmembrane transport GO:0098655 9.91 SCN8A SCN2A SCN1A GRIN2A
18 response to acetylcholine GO:1905144 9.91 CHRNA2 CHRNB2 TSPO
19 learning GO:0007612 9.9 MECP2 GRIN2A CHRNB2
20 behavioral response to nicotine GO:0035095 9.88 CHRNA4 CHRNB2
21 regulation of postsynaptic membrane potential GO:0060078 9.8 CHRNA2 CHRNA4 CHRNB2 GABRD GABRG2 GRIN2A
22 monoatomic ion transmembrane transport GO:0034220 9.8 CHRNA2 CHRNA4 CHRNB2 GABRD GABRG2 GRIN2A
23 monoatomic ion transport GO:0006811 9.47 TSPO SCN8A SCN2A SCN1A KCNT1 GRIN2A

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 neurotransmitter receptor activity GO:0030594 10.02 GABRG2 GABRD CHRNB2 CHRNA4 CHRNA2
2 ligand-gated monoatomic ion channel activity GO:0015276 10 GRIN2A CHRNB2 CHRNA4
3 voltage-gated sodium channel activity GO:0005248 9.97 SCN1A SCN2A SCN8A
4 transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.96 GABRG2 GABRD CHRNB2 CHRNA4 CHRNA2
5 transmembrane signaling receptor activity GO:0004888 9.91 GABRG2 GABRD CHRNB2 CHRNA4 CHRNA2
6 acetylcholine-gated monoatomic cation-selective channel activity GO:0022848 9.91 CHRNB2 CHRNA4 CHRNA2
7 acetylcholine receptor activity GO:0015464 9.88 CHRNB2 CHRNA4 CHRNA2
8 acetylcholine binding GO:0042166 9.85 CHRNB2 CHRNA4
9 excitatory extracellular ligand-gated monoatomic ion channel activity GO:0005231 9.85 CHRNA2 CHRNA4 CHRNB2 GABRD GABRG2
10 benzodiazepine receptor activity GO:0008503 9.84 TSPO GABRG2
11 quaternary ammonium group binding GO:0050997 9.76 CHRNB2 CHRNA2
12 monoatomic cation channel activity GO:0005261 9.67 GRIN2A SCN1A SCN2A SCN8A
13 sodium channel activity GO:0005272 9.65 SCN8A SCN2A SCN1A
14 extracellular ligand-gated monoatomic ion channel activity GO:0005230 9.35 GABRG2 GABRD CHRNB2 CHRNA4 CHRNA2
15 monoatomic ion channel activity GO:0005216 9.28 SCN8A SCN2A SCN1A GRIN2A GABRG2 GABRD
Sources

Sources for Focal Epilepsy

About this section
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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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