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 44 72
Localisation-Related Epilepsy 12


External Ids:

Disease Ontology 12 DOID:2234
MeSH 44 D004828
NCIt 50 C122812
SNOMED-CT 68 29753000 67139004
UMLS 72 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 Transmission across Chemical Synapses and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Gabapentin and Carbamazepine 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 391)
# Related Disease Score Top Affiliating Genes
1 epilepsy, familial focal, with variable foci 1 34.5 NPRL3 NPRL2 DEPDC5
2 malignant migrating partial seizures of infancy 34.0 SCN2A SCN1A KCNT1
3 epilepsy, focal, with speech disorder and with or without mental retardation 33.3 GRIN2B GRIN2A
4 epilepsy, nocturnal frontal lobe, 3 32.9 CHRNB2 CHRNA4
5 epilepsy, nocturnal frontal lobe, 1 32.5 SCN1A GABRG2 CHRNB2 CHRNA4 CHRNA2
6 seizure disorder 32.2 SCN2A SCN1A CDKL5
7 visual epilepsy 32.0 SCN2A SCN1A CDKL5
8 encephalopathy 31.6 SPTAN1 SCN1A CDKL5
9 febrile seizures 31.5 SCN1A GABRG2 CHRNB2 CHRNA4
10 early myoclonic encephalopathy 31.3 SCN1A GABRG2 CDKL5
11 status epilepticus 31.3 SCN1A LGI1 GRIN2B
12 autosomal dominant nocturnal frontal lobe epilepsy 31.2 KCNT1 DEPDC5 CHRNB2 CHRNA4 CHRNA2
13 benign epilepsy with centrotemporal spikes 31.0 SPTAN1 SCN2A KCNT1 GRIN2A GABRG2 DEPDC5
14 autosomal dominant epilepsy with auditory features 31.0 LGI1 DEPDC5
15 generalized epilepsy with febrile seizures plus 30.9 SCN8A SCN2A SCN1A GABRG2
16 encephalitis 30.8 TSPO LGI1 IL1B
17 speech and communication disorders 30.6 LGI1 GRIN2A CNTNAP2
18 benign familial infantile epilepsy 30.6 SCN8A SCN2A CHRNA2
19 seizures, benign familial infantile, 3 30.5 SCN2A SCN1A GABRG2 CHRNA4
20 epileptic encephalopathy, early infantile, 6 30.5 SCN8A SCN2A SCN1A KCNT1 GABRG2 CDKL5
21 disease of mental health 30.4 GRIN2B GRIN2A CHRNA4
22 west syndrome 30.4 SPTAN1 SCN8A SCN2A SCN1A KCNT1 GRIN2B
23 epilepsy, familial temporal lobe, 3 30.4 SCN2A LGI1 DEPDC5
24 epilepsy, idiopathic generalized 30.4 TSPO SCN2A SCN1A LGI1 GABRG2 CHRNB2
25 early infantile epileptic encephalopathy 30.3 SPTAN1 SCN8A SCN2A SCN1A KCNT1 CDKL5
26 attention deficit-hyperactivity disorder 30.2 GRIN2B GRIN2A CNTNAP2 CHRNA4
27 angelman syndrome 30.2 TSPO GABRG2 CDKL5
28 epilepsy 30.2 SCN8A SCN2A SCN1A NPRL3 NPRL2 LGI1
29 autoimmune encephalitis 30.2 LGI1 CNTNAP2
30 autosomal dominant partial epilepsy with auditory features 12.6
31 pitt-hopkins-like syndrome 1 12.4
32 benign infantile focal epilepsy with midline spikes and waves during sleep 12.4
33 benign partial epilepsy with secondarily generalized seizures in infancy 12.3
34 focal epilepsy-intellectual disability-cerebro-cerebellar malformation 12.3
35 benign partial epilepsy of infancy with complex partial seizures 12.2
36 myoclonus epilepsy partial seizure 12.2
37 centralopathic epilepsy 12.0
38 epilepsy-aphasia spectrum 11.7
39 epilepsy, familial temporal lobe, 1 11.6
40 landau-kleffner syndrome 11.5
41 partial motor epilepsy 11.5
42 epilepsy, familial focal, with variable foci 2 11.5
43 epilepsy, familial focal, with variable foci 3 11.5
44 rolandic epilepsy, mental retardation, and speech dyspraxia, x-linked 11.4
45 partial sensory epilepsy 11.3
46 epilepsy, nocturnal frontal lobe, 4 11.3
47 epilepsy, nocturnal frontal lobe, 5 11.3
48 seizures, benign familial infantile, 1 11.1
49 epilepsy, nocturnal frontal lobe, 2 11.1
50 deep brain stimulation for movement disorders 11.1

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 10.31 CDKL5 CHRNA4 CHRNB2 CNTNAP2 DEPDC5 GABRG2
2 growth/size/body region MP:0005378 10.24 CHRNB2 CNTNAP2 DEPDC5 GABRG2 GRIN2B IL1B
3 homeostasis/metabolism MP:0005376 10.1 CHRNA2 CHRNA4 CHRNB2 DEPDC5 GABRG2 GRIN2B
4 mortality/aging MP:0010768 10 CHRNA4 CHRNB2 DEPDC5 GABRG2 GRIN2B IL1B
5 cardiovascular system MP:0005385 9.95 IL1B MTOR NPRL3 SCN1A SCN8A SPTAN1
6 nervous system MP:0003631 9.89 CDKL5 CHRNA2 CHRNA4 CHRNB2 CNTNAP2 DEPDC5
7 integument MP:0010771 9.86 CHRNA4 CHRNB2 CNTNAP2 GRIN2A IL1B KCNT1
8 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 130)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
Topiramate Approved Phase 4 97240-79-4 5284627
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
Levetiracetam Approved, Investigational Phase 4 102767-28-2 441341
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
Lacosamide Approved Phase 4 175481-36-4, 860352-01-8 219078
Phenobarbital Approved, Investigational Phase 4 50-06-6 4763
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
Vigabatrin Approved Phase 4 60643-86-9, 68506-86-5 5665
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
Probenecid Approved, Investigational Phase 4 57-66-9 4911
Calcium Approved, Nutraceutical Phase 4 7440-70-2 271
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
23 GABA Agonists Phase 4
24 GABA-A Receptor Agonists Phase 4
25 Neurotransmitter Uptake Inhibitors Phase 4
26 Antimanic Agents Phase 4
27 Hypoglycemic Agents Phase 4
28 Autonomic Agents Phase 4
29 Analgesics, Non-Narcotic Phase 4
30 Anesthetics, Intravenous Phase 4
31 Antiemetics Phase 4
32 Gastrointestinal Agents Phase 4
33 Adjuvants, Anesthesia Phase 4
34 Neuromuscular Agents Phase 4
35 Anesthetics Phase 4
36 Anesthetics, General Phase 4
37 Prednisolone acetate Phase 4
38 Methylprednisolone Acetate Phase 4
39 Neurotransmitter Agents Phase 4
40 Analgesics Phase 4
41 Central Nervous System Depressants Phase 4
42 Hormones Phase 4
43 Tranquilizing Agents Phase 4
44 Anti-Anxiety Agents Phase 4
45 GABA Agents Phase 4
46 Peripheral Nervous System Agents Phase 4
47 Diuretics, Potassium Sparing Phase 4
48 Sodium Channel Blockers Phase 4
49 Nootropic Agents Phase 4
50 Excitatory Amino Acid Antagonists Phase 4

Interventional clinical trials:

(show top 50) (show all 242)
# 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 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
3 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
4 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
5 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)
6 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
7 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
8 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
9 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
10 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
11 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
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 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
14 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
15 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
16 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
17 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
18 Pharmacovigilance Study of Keppra. SPAIN - SKATE : Safety of Keppra as Adjunctive Therapy in Epilepsy Completed NCT00643500 Phase 4 Levetiracetam
19 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
20 Trial Studying the Safety and Efficacy of Keppra® as Adjunctive Therapy in Adult Patients With Uncontrolled Partial Epilepsy Completed NCT00630968 Phase 4 Levetiracetam (Keppra)
21 Phase IV Study of Cognitive and Behavioral Effects of Lacosamide as Adjunctive Therapy in Patients With Partial Epilepsy Completed NCT01175954 Phase 4 Lacosamide;Lacosamide
22 Transcranial Direct Current Stimulation for Treatment of Childhood Pharmacoresistant Lennox-Gastaut Syndrome, A Pilot Study Completed NCT02731300 Phase 4
24 Efficacy and Safety of Rapid Titration Protocols of Lacosamide: An Exploratory Study Not yet recruiting NCT03607851 Phase 4 Lacosamide - conventional titration;Lacosamide - rapid titration 1;Lacosamide - rapid titration 2
25 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
26 Electroclinical Effect of Diazepam and Steroid in Patients With Benign Childhood Epilepsy With Centrotemporal Spikes Not yet recruiting NCT03490487 Phase 4 conventional antiepileptic drugs;oral steroid;Diazepam
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 Efficacy of Naloxone in Reducing Postictal Central Respiratory Dysfunction in Patients With Epilepsy Unknown status NCT02332447 Phase 3 naloxone;Placebo
36 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
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 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
39 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
40 Follow-up Study of L059 (Levetiracetam) in Epileptic Patients With Partial Onset Seizures by Open Label Method Completed NCT00160615 Phase 3 Levetiracetam
41 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
42 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
43 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
44 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
45 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)
46 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
47 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
48 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)
49 Topiramate (RWJ 17021-000) Clinical Trial In Children With Partial Onset Seizures Completed NCT00236743 Phase 3 topiramate
50 A Multicenter, Open-label Extension Trial to Assess the Long-term Safety and Tolerability of Lacosamide as Adjunctive Therapy in Subjects With Partial-onset Seizures Completed NCT00655486 Phase 3 lacosamide

Search NIH Clinical Center for Focal Epilepsy

Inferred drug relations via UMLS 72 / NDF-RT 51 :

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, Heart, Thalamus

Publications for Focal Epilepsy

Articles related to Focal Epilepsy:

(show top 50) (show all 5811)
# Title Authors PMID Year
Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy. 9 38
20133599 2010
The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. 9 38
19577488 2009
LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. 9 38
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. 9 38
19339291 2009
Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus. 9 38
18632234 2009
Cortical glucose metabolism correlates negatively with delta-slowing and spike-frequency in epilepsy associated with tuberous sclerosis. 9 38
17948886 2008
Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. 9 38
18711109 2008
Expression profile of Lgi1 gene in mouse brain during development. 9 38
18563303 2008
Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy. 9 38
18355961 2008
Evaluation of epileptogenic networks in children with tuberous sclerosis complex using EEG-fMRI. 9 38
18177362 2008
Focal epilepsy resulting from a de novo SCN1A mutation. 9 38
18330841 2007
A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures. 9 38
17562837 2007
The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface. 9 38
17067999 2006
Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. 9 38
16990550 2006
mGlu1 and mGlu5 receptor antagonists lack anticonvulsant efficacy in rodent models of difficult-to-treat partial epilepsy. 9 38
16563443 2006
Increased expression of LGI1 gene triggers growth inhibition and apoptosis of neuroblastoma cells. 9 38
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. 9 38
16256272 2006
[Episodic ataxias]. 9 38
16100538 2005
Seizure-related short-term plasticity of benzodiazepine receptors in partial epilepsy: a [11C]flumazenil-PET study. 9 38
15758035 2005
ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. 9 38
15857855 2005
Genetics of idiopathic epilepsies. 9 38
15816978 2005
A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. 9 38
15349881 2004
LGI1 mutations in temporal lobe epilepsies. 9 38
15079010 2004
LGI1 mutations in autosomal dominant partial epilepsy with auditory features. 9 38
15079011 2004
Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions. 9 38
12887442 2003
Correlation between GABA(A) receptor density and vagus nerve stimulation in individuals with drug-resistant partial epilepsy. 9 38
12948617 2003
Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. 9 38
12771268 2003
Is central benzodiazepine receptor imaging useful for the identification of epileptogenic foci in localization-related epilepsies? 9 38
12552355 2003
alpha-[11C]-Methyl-L-tryptophan PET identifies the epileptogenic tuber and correlates with interictal spike frequency. 9 38
12536053 2003
Epilepsy surgery outcome in children with focal epilepsy due to tuberous sclerosis complex. 9 38
12536368 2002
Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) and IGE. 9 38
11121188 2000
[Benzodiazepine receptor imaging in the brain: recent developments and clinical validity]. 9 38
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. 9 38
10355668 1999
The localizing value of ictal SPECT in children with tuberous sclerosis complex and refractory partial epilepsy. 9 38
10937131 1999
Idiopathic epilepsies with a monogenic mode of inheritance. 9 38
10446744 1999
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. 9 38
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. 9 38
9795703 1998
Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies. 9 38
9259383 1997
Benzodiazepine receptors in focal epilepsy with cortical dysgenesis: an 11C-flumazenil PET study. 9 38
8773600 1996
Localized cerebellar reductions in benzodiazepine receptor density in human partial epilepsy. 9 38
8929173 1996
L-deprenyl (selegiline) exerts anticonvulsant effects against different seizure types in mice. 9 38
8667204 1996
Evaluation of focal epilepsy: a SPECT scanning comparison of 123-I-iomazenil versus HM-PAO. 9 38
1317662 1992
Benzodiazepine receptors and cerebral blood flow in partial epilepsy. 9 38
1646108 1991
7T GRE-MRI signal compartments are sensitive to dysplastic tissue in focal epilepsy. 38
31075420 2019
Insights into sleep-related hyper-motor epilepsy: an Egyptian case series. 38
31084342 2019
Simultaneous Frame-assisted Stereotactic Placement of Subdural Grid Electrodes and Intracerebral Depth Electrodes. 38
31083743 2019
The intracranial correlate of the 14&6/sec positive spikes normal scalp EEG variant. 38
31302567 2019
CT perfusion measurement of postictal hypoperfusion: localization of the seizure onset zone and patterns of spread. 38
31152191 2019
Improved synthetic T1-weighted images for cerebral tissue segmentation in neurological diseases. 38
31075421 2019
The role of the dorsal anterior insula in ecstatic sensation revealed by direct electrical brain stimulation. 38
31196836 2019

Variations for Focal Epilepsy

ClinVar genetic disease variations for Focal Epilepsy:

6 (show all 12)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CDKL5 NM_003159.2(CDKL5): c.2641C> T (p.Gln881Ter) single nucleotide variant Pathogenic rs1057519541 X:18646635-18646635 X:18628515-18628515
2 SCN1A NM_006920.6(SCN1A): c.4753C> T (p.Arg1585Cys) single nucleotide variant Pathogenic 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 rs587784440 9:131394551-131394559 9:128632272-128632280
4 MECP2 NM_004992.3(MECP2): c.915G> T (p.Lys305Asn) single nucleotide variant Likely pathogenic rs1057519543 X:153296364-153296364 X:154030913-154030913
5 NID1 NM_002508.3(NID1): c.3385+1G> A single nucleotide variant Likely pathogenic rs730882225 1:236143795-236143795 1:235980495-235980495
6 SCN2A NM_001040142.2(SCN2A): c.571T> G (p.Trp191Gly) single nucleotide variant Likely pathogenic rs1057519525 2:166165270-166165270 2:165308760-165308760
7 KCNT1 NM_020822.3(KCNT1): c.2882G> A (p.Arg961His) single nucleotide variant Conflicting interpretations of pathogenicity rs200694691 9:138675910-138675910 9:135784064-135784064
8 SCN8A NM_014191.4(SCN8A): c.5630A> G (p.Asn1877Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587780455 12:52200900-52200900 12:51807116-51807116
9 GRIN2A NM_000833.5(GRIN2A): c.3827C> G (p.Ala1276Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs145063086 16:9857574-9857574 16:9763717-9763717
10 CACNA1H NM_021098.3(CACNA1H): c.1546C> T (p.His516Tyr) single nucleotide variant Uncertain significance rs1057519554 16:1251996-1251996 16:1201996-1201996
11 SCN1A NM_006920.6(SCN1A): c.4595T> C (p.Phe1532Ser) single nucleotide variant Uncertain significance rs121917992 2:166850880-166850880 2:165994370-165994370
12 SCN1A NM_006920.6(SCN1A): c.4937G> A (p.Arg1646His) single nucleotide variant not provided rs121917994 2:166848815-166848815 2:165992305-165992305

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 11)
# Super pathways Score Top Affiliating Genes
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8 10.82 GRIN2B GRIN2A
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GO Terms for Focal Epilepsy

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.93 GRIN2B GRIN2A GABRG2 CHRNB2 CHRNA4 CHRNA2
2 cell junction GO:0030054 9.92 LGI1 GRIN2B GRIN2A GABRG2 CNTNAP2 CHRNB2
3 axon GO:0030424 9.91 SCN8A SCN2A SCN1A GABRG2 CNTNAP2
4 lysosome GO:0005764 9.89 NPRL3 NPRL2 MTOR IL1B DEPDC5
5 lysosomal membrane GO:0005765 9.88 NPRL3 NPRL2 MTOR DEPDC5
6 glutamatergic synapse GO:0098978 9.88 SCN2A MTOR LGI1 GRIN2A CDKL5
7 integral component of presynaptic membrane GO:0099056 9.71 SCN2A CHRNB2 CHRNA4
8 postsynaptic membrane GO:0045211 9.63 GRIN2B GRIN2A GABRG2 CHRNB2 CHRNA4 CHRNA2
9 acetylcholine-gated channel complex GO:0005892 9.61 CHRNB2 CHRNA4 CHRNA2
10 axon initial segment GO:0043194 9.58 SCN8A SCN1A
11 node of Ranvier GO:0033268 9.58 SCN8A SCN2A SCN1A
12 dopaminergic synapse GO:0098691 9.56 CHRNB2 CHRNA4
13 NMDA selective glutamate receptor complex GO:0017146 9.55 GRIN2B GRIN2A
14 voltage-gated sodium channel complex GO:0001518 9.54 SCN8A SCN2A SCN1A
15 sodium channel complex GO:0034706 9.52 SCN2A SCN1A
16 synapse GO:0045202 9.23 LGI1 GRIN2B GRIN2A GABRG2 CHRNB2 CHRNA4
17 GATOR1 complex GO:1990130 9.13 NPRL3 NPRL2 DEPDC5
18 membrane GO:0016020 10.19 TSPO SPTAN1 SCN8A SCN2A SCN1A NPRL3
19 integral component of plasma membrane GO:0005887 10.11 SCN2A GRIN2B GRIN2A GABRG2 CHRNB2 CHRNA4

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.95 NPRL3 NPRL2 DEPDC5 CDKL5
2 brain development GO:0007420 9.93 MTOR GRIN2B GRIN2A CNTNAP2
3 chemical synaptic transmission GO:0007268 9.85 GRIN2B GRIN2A GABRG2 CHRNB2 CHRNA4 CHRNA2
4 MAPK cascade GO:0000165 9.79 SPTAN1 IL1B GRIN2B
5 sodium ion transmembrane transport GO:0035725 9.78 SCN8A SCN2A SCN1A
6 learning GO:0007612 9.76 GRIN2A CNTNAP2 CHRNB2
7 ion transmembrane transport GO:0034220 9.76 SCN8A SCN2A SCN1A GRIN2A GABRG2 CHRNB2
8 sensory perception of pain GO:0019233 9.73 GRIN2A CHRNB2 CHRNA4
9 nervous system process GO:0050877 9.73 GABRG2 CHRNB2 CHRNA4 CHRNA2
10 visual learning GO:0008542 9.72 MTOR GRIN2A CHRNB2
11 excitatory postsynaptic potential GO:0060079 9.72 GRIN2B GRIN2A CHRNB2 CHRNA4 CHRNA2
12 negative regulation of TOR signaling GO:0032007 9.71 NPRL3 NPRL2 DEPDC5
13 cellular response to amino acid starvation GO:0034198 9.71 NPRL3 NPRL2 MTOR DEPDC5
14 response to ethanol GO:0045471 9.7 GRIN2B GRIN2A CHRNB2
15 neuronal action potential GO:0019228 9.69 SCN8A SCN2A SCN1A
16 positive regulation of glial cell proliferation GO:0060252 9.67 TSPO MTOR IL1B
17 cardiac muscle tissue development GO:0048738 9.65 NPRL3 MTOR
18 membrane depolarization during action potential GO:0086010 9.65 SCN8A SCN2A SCN1A
19 regulation of postsynaptic membrane potential GO:0060078 9.65 GRIN2A GABRG2 CHRNB2 CHRNA4 CHRNA2
20 action potential GO:0001508 9.64 CHRNB2 CHRNA4
21 glutamate receptor signaling pathway GO:0007215 9.64 GRIN2B GRIN2A
22 regulation of autophagosome assembly GO:2000785 9.63 NPRL3 NPRL2
23 social behavior GO:0035176 9.63 MTOR CNTNAP2 CHRNB2
24 memory GO:0007613 9.62 GRIN2A CHRNB2
25 acetylcholine receptor signaling pathway GO:0095500 9.62 CHRNB2 CHRNA4
26 TORC1 signaling GO:0038202 9.6 NPRL3 MTOR
27 excitatory chemical synaptic transmission GO:0098976 9.59 GRIN2B GRIN2A
28 calcium ion transmembrane import into cytosol GO:0097553 9.58 GRIN2B GRIN2A
29 behavioral response to nicotine GO:0035095 9.57 CHRNB2 CHRNA4
30 regulation of membrane potential GO:0042391 9.5 SCN1A KCNT1 GRIN2A GABRG2 CHRNB2 CHRNA4
31 ion transport GO:0006811 9.36 TSPO SCN8A SCN2A SCN1A KCNT1 GRIN2B

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.7 SCN8A SCN2A SCN1A
2 sodium channel activity GO:0005272 9.58 SCN8A SCN2A SCN1A
3 voltage-gated sodium channel activity GO:0005248 9.54 SCN8A SCN2A SCN1A
4 ionotropic glutamate receptor activity GO:0004970 9.51 GRIN2B GRIN2A
5 acetylcholine-gated cation-selective channel activity GO:0022848 9.5 CHRNB2 CHRNA4 CHRNA2
6 benzodiazepine receptor activity GO:0008503 9.49 TSPO GABRG2
7 NMDA glutamate receptor activity GO:0004972 9.48 GRIN2B GRIN2A
8 glutamate-gated calcium ion channel activity GO:0022849 9.46 GRIN2B GRIN2A
9 ligand-gated ion channel activity GO:0015276 9.43 CHRNB2 CHRNA4
10 acetylcholine binding GO:0042166 9.43 CHRNB2 CHRNA4 CHRNA2
11 acetylcholine receptor activity GO:0015464 9.33 CHRNB2 CHRNA4 CHRNA2
12 ion channel activity GO:0005216 9.28 SCN8A SCN2A SCN1A GRIN2B GRIN2A GABRG2
13 extracellular ligand-gated ion channel activity GO:0005230 9.26 GABRG2 CHRNB2 CHRNA4 CHRNA2

Sources for Focal Epilepsy

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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