Focal Epilepsy disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: FCL014 MIFTS: 54	Focal Epilepsy Categories: Neuronal diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs Expand all tables

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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

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:2234

MeSH ⁴³ D004828

NCIt ⁴⁹ C122812

SNOMED-CT ⁶⁷ 230381009

EFO ¹⁷ EFO_0004263

UMLS ⁷¹ C0014547

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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

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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
48	autism	30.4	TSPO SCN8A SCN2A SCN1A MTOR GRIN2B
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:

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Symptoms & Phenotypes for Focal Epilepsy

UMLS symptoms related to Focal Epilepsy:

seizures

MGI Mouse Phenotypes related to Focal Epilepsy:

⁴⁵

#	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

Sources

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

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

Gastrointestinal Agents

Phase 4

Anesthetics

Phase 4

Hypnotics and Sedatives

Phase 4

Anesthetics, General

Phase 4

Antiemetics

Phase 4

GABA Modulators

Phase 4

Anesthetics, Intravenous

Phase 4

GABA Agonists

Phase 4

Antineoplastic Agents, Hormonal

Phase 4

Methylprednisolone Acetate

Phase 4

glucocorticoids

Phase 4

Hormone Antagonists

Phase 4

Excitatory Amino Acid Antagonists

Phase 4

Hypoglycemic Agents

Phase 4

Analgesics, Non-Narcotic

Phase 4

Anticonvulsants

Phase 4

Neurotransmitter Agents

Phase 4

Sodium Channel Blockers

Phase 4

Hormones

Phase 4

Psychotropic Drugs

Phase 4

Anti-Anxiety Agents

Phase 4

Diuretics, Potassium Sparing

Phase 4

Analgesics

Phase 4

Calcium, Dietary

Phase 4

calcium channel blockers

Phase 4

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
25	PROSPECTIVE RANDOMIZED 12-WEEK CONTROLLED STUDY OF VISUAL FIELD CHANGE IN SUBJECTS WITH PARTIAL SEIZURES RECEIVING PREGABALIN OR PLACEBO	Recruiting	NCT00351611	Phase 4	Lyrica (pregabalin);placebo
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

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

Genetic tests related to Focal Epilepsy:

#	Genetic test	Affiliating Genes
1	Focal Epilepsy ²⁹

Sources

Anatomical Context for Focal Epilepsy

MalaCards organs/tissues related to Focal Epilepsy:

⁴⁰

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

Sources

Publications for Focal Epilepsy

Articles related to Focal Epilepsy:

(show top 50) (show all 6086)

#	Title	Authors	PMID	Year
1	Disruption of LGI1-linked synaptic complex causes abnormal synaptic transmission and epilepsy. ⁵⁴ ⁶¹	Fukata Y...Fukata M	20133599	2010
2	The 1674+11C>T polymorphism of CHRNA4 is associated with juvenile myoclonic epilepsy. ⁶¹ ⁵⁴	Rozycka A...Trzeciak WH	19577488	2009
3	LGI1 mutations in autosomal dominant and sporadic lateral temporal epilepsy. ⁵⁴ ⁶¹	Nobile C...Striano P	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. ⁶¹ ⁵⁴	Livingston JH...Zuberi SM	19339291	2009
5	Novel de novo splice-site mutation of SCN1A in a patient with partial epilepsy with febrile seizures plus. ⁵⁴ ⁶¹	Kumakura A...Hirose S	18632234	2009
6	Cortical glucose metabolism correlates negatively with delta-slowing and spike-frequency in epilepsy associated with tuberous sclerosis. ⁶¹ ⁵⁴	Nishida M...Chugani HT	17948886	2008
7	Penetrance of LGI1 mutations in autosomal dominant partial epilepsy with auditory features. ⁶¹ ⁵⁴	Rosanoff MJ...Ottman R	18711109	2008
8	Expression profile of Lgi1 gene in mouse brain during development. ⁶¹ ⁵⁴	Ribeiro PA...Lopes-Cendes I	18563303	2008
9	Evaluation of epileptogenic networks in children with tuberous sclerosis complex using EEG-fMRI. ⁵⁴ ⁶¹	Jacobs J...Siniatchkin M	18177362	2008
10	Analysis of LGI1 promoter sequence, PDYN and GABBR1 polymorphisms in sporadic and familial lateral temporal lobe epilepsy. ⁶¹ ⁵⁴	Bovo G...Nobile C	18355961	2008
11	Focal epilepsy resulting from a de novo SCN1A mutation. ⁶¹ ⁵⁴	Okumura A...Watanabe K	18330841	2007
12	A de novo LGI1 mutation causing idiopathic partial epilepsy with telephone-induced seizures. ⁶¹ ⁵⁴	Michelucci R...Nobile C	17562837	2007
13	The epilepsy gene LGI1 encodes a secreted glycoprotein that binds to the cell surface. ⁵⁴ ⁶¹	Sirerol-Piquer MS...Perez-Tur J	17067999	2006
14	Epilepsy-related ligand/receptor complex LGI1 and ADAM22 regulate synaptic transmission. ⁵⁴ ⁶¹	Fukata Y...Fukata M	16990550	2006
15	mGlu1 and mGlu5 receptor antagonists lack anticonvulsant efficacy in rodent models of difficult-to-treat partial epilepsy. ⁶¹ ⁵⁴	Loscher W...Potschka H	16563443	2006
16	Increased expression of LGI1 gene triggers growth inhibition and apoptosis of neuroblastoma cells. ⁵⁴ ⁶¹	Gabellini N...Palu G	16518856	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. ⁶¹ ⁵⁴	Ma S...Hedera P	16256272	2006
18	[Episodic ataxias]. ⁶¹ ⁵⁴	Herrmann A...Russell MB	16100538	2005
19	ADPEAF mutations reduce levels of secreted LGI1, a putative tumor suppressor protein linked to epilepsy. ⁶¹ ⁵⁴	Senechal KR...Noebels JL	15857855	2005
20	Seizure-related short-term plasticity of benzodiazepine receptors in partial epilepsy: a [11C]flumazenil-PET study. ⁵⁴ ⁶¹	Bouvard S...Ryvlin P	15758035	2005
21	Genetics of idiopathic epilepsies. ⁵⁴ ⁶¹	Hirose S...Epilepsy Genetic Study Group, Japan	15816978	2005
22	A de novo LGI1 mutation in sporadic partial epilepsy with auditory features. ⁶¹ ⁵⁴	Bisulli F...Nobile C	15349881	2004
23	LGI1 mutations in temporal lobe epilepsies. ⁵⁴ ⁶¹	Berkovic SF...Mulley JC	15079010	2004
24	LGI1 mutations in autosomal dominant partial epilepsy with auditory features. ⁶¹ ⁵⁴	Ottman R...Hauser WA	15079011	2004
25	Association of the neuronal nicotinic acetylcholine receptor subunit alpha4 polymorphisms with febrile convulsions. ⁵⁴ ⁶¹	Chou IC...Tsai FJ	12887442	2003
26	Correlation between GABA(A) receptor density and vagus nerve stimulation in individuals with drug-resistant partial epilepsy. ⁶¹ ⁵⁴	Marrosu F...Piga M	12948617	2003
27	Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. ⁶¹ ⁵⁴	Fertig E...Hisama FM	12771268	2003
28	Is central benzodiazepine receptor imaging useful for the identification of epileptogenic foci in localization-related epilepsies? ⁶¹ ⁵⁴	Goethals I...Dierckx R	12552355	2003
29	alpha-[11C]-Methyl-L-tryptophan PET identifies the epileptogenic tuber and correlates with interictal spike frequency. ⁵⁴ ⁶¹	Fedi M...Diksic M	12536053	2003
30	Epilepsy surgery outcome in children with focal epilepsy due to tuberous sclerosis complex. ⁵⁴ ⁶¹	Karenfort M...Tuxhorn I	12536368	2002
31	Failure to replicate association between the gene for the neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) and IGE. ⁵⁴ ⁶¹	Chioza B...Makoff AJ	11121188	2000
32	[Benzodiazepine receptor imaging in the brain: recent developments and clinical validity]. ⁶¹ ⁵⁴	Morimoto K	10390953	1999
33	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	Zuberi SM...Hanna MG	10355668	1999
34	The localizing value of ictal SPECT in children with tuberous sclerosis complex and refractory partial epilepsy. ⁶¹ ⁵⁴	Koh S...Duchowny M	10937131	1999
35	Idiopathic epilepsies with a monogenic mode of inheritance. ⁵⁴ ⁶¹	Steinlein OK	10446744	1999
36	Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. ⁵⁴ ⁶¹	Phillips HA...Mulley JC	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. ⁶¹ ⁵⁴	Kuji I...Tonami N	9795703	1998
38	Possible association of a silent polymorphism in the neuronal nicotinic acetylcholine receptor subunit alpha4 with common idiopathic generalized epilepsies. ⁵⁴ ⁶¹	Steinlein O...Propping P	9259383	1997
39	Benzodiazepine receptors in focal epilepsy with cortical dysgenesis: an 11C-flumazenil PET study. ⁵⁴ ⁶¹	Richardson MP...Duncan JS	8773600	1996
40	Localized cerebellar reductions in benzodiazepine receptor density in human partial epilepsy. ⁵⁴ ⁶¹	Savic I...Thorell JO	8929173	1996
41	L-deprenyl (selegiline) exerts anticonvulsant effects against different seizure types in mice. ⁵⁴ ⁶¹	Loscher W...Lehmann H	8667204	1996
42	Evaluation of focal epilepsy: a SPECT scanning comparison of 123-I-iomazenil versus HM-PAO. ⁶¹ ⁵⁴	Cordes M...Felix R	1317662	1992
43	Benzodiazepine receptors and cerebral blood flow in partial epilepsy. ⁶¹ ⁵⁴	Bartenstein P...Beer HF	1646108	1991
44	Methylprednisolone pulse therapy in 31 patients with refractory epilepsy: A single-center retrospective analysis. ⁶¹	Kimizu T...Shigematsu H	32388139	2020
45	Phenotypic characterization of COL4A1-related West syndrome. ⁶¹	Wang QH...Zhang TT	32446163	2020
46	Functional imaging of the piriform cortex in focal epilepsy. ⁶¹	Koepp M...Galovic M	32278645	2020
47	Cortical excitability measured with transcranial magnetic stimulation in children with epilepsy before and after antiepileptic drugs. ⁶¹	Andreasson AC...Hallbook T	32064586	2020
48	Electroencephalogram alterations associated with psychiatric disorders in temporal lobe epilepsy with mesial sclerosis: A systematic review. ⁶¹	de Barros Lourenco FH...de Araujo Filho GM	32470667	2020
49	Direct visual targeting versus preset coordinates for ANT-DBS in epilepsy. ⁶¹	Nome T...Dietrichs E	32078161	2020
50	Effects of resective epilepsy surgery on the social determinants of health. ⁶¹	Ortega JB...Anschel DJ	32302783	2020

Sources

Genes for Focal Epilepsy

Genes related to Focal Epilepsy (3 elite genes):

(show top 50) (show all 84)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SCN1A	Sodium Voltage-Gated Channel Alpha Subunit 1	Protein Coding	433.28	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications Variants (show sections)	18632234 18330841 19339291
2	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	413.22	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
3	SPTAN1	Spectrin Alpha, Non-Erythrocytic 1	Protein Coding	411.43	Pathogenic/Likely pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
4	DEPDC5	DEP Domain Containing 5, GATOR1 Subcomplex Subunit	Protein Coding	37.65	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Variants (show sections)
5	GRIN2A	Glutamate Ionotropic Receptor NMDA Type Subunit 2A	Protein Coding	31.88	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Variants (show sections)
6	CHRNA4	Cholinergic Receptor Nicotinic Alpha 4 Subunit	Protein Coding	24.31	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Disorders (show sections)	10446744 9758605 11121188 (more) 9259383 12887442 19577488
7	KCNT1	Potassium Sodium-Activated Channel Subfamily T Member 1	Protein Coding	23.84	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
8	GABRG2	Gamma-Aminobutyric Acid Type A Receptor Subunit Gamma2	Protein Coding	20.37	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	16256272
9	TSPO	Translocator Protein	Protein Coding	19.81	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴ GeneCards inferred via : Publications (show sections)	10390953 1317662 8956845 (more) 9795703 1646108 8773600 12552355 12948617 9397014 11270234 15758035 8929173
10	LGI1	Leucine Rich Glioma Inactivated 1	Protein Coding	18.64	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	15079011 18711109 12771268 (more) 15816978 15857855 15349881 17562837 17067999 15009222 19191227 16990550 18563303 16518856 20133599 15079010 18355961
11	CHRNB2	Cholinergic Receptor Nicotinic Beta 2 Subunit	Protein Coding	15.42	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
12	CHRNA2	Cholinergic Receptor Nicotinic Alpha 2 Subunit	Protein Coding	14.98	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
13	SCN2A	Sodium Voltage-Gated Channel Alpha Subunit 2	Protein Coding	14.12	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
14	SCN8A	Sodium Voltage-Gated Channel Alpha Subunit 8	Protein Coding	14.01	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
15	CNTNAP2	Contactin Associated Protein 2	Protein Coding	13.75	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
16	NPRL2	NPR2 Like, GATOR1 Complex Subunit	Protein Coding	13.46	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
17	NPRL3	NPR3 Like, GATOR1 Complex Subunit	Protein Coding	13.44	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
18	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	13.34	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
19	CACNA1H	Calcium Voltage-Gated Channel Subunit Alpha1 H	Protein Coding	13.28	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
20	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	13.11	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
21	TBC1D24	TBC1 Domain Family Member 24	Protein Coding	12.93	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
22	IL1B	Interleukin 1 Beta	Protein Coding	12.84	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
23	SCN3A	Sodium Voltage-Gated Channel Alpha Subunit 3	Protein Coding	12.79	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
24	MECP2	Methyl-CpG Binding Protein 2	Protein Coding	12.71	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
25	TSC1	TSC Complex Subunit 1	Protein Coding	12.7	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	17948886 10937131 12536368 (more) 18177362 12536053
26	TSC2	TSC Complex Subunit 2	Protein Coding	12.67	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
27	SNAP25	Synaptosome Associated Protein 25	Protein Coding	12.42	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
28	GABRD	Gamma-Aminobutyric Acid Type A Receptor Subunit Delta	Protein Coding	12.4	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
29	KCNA1	Potassium Voltage-Gated Channel Subfamily A Member 1	Protein Coding	12.38	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	16100538 10355668
30	CPA6	Carboxypeptidase A6	Protein Coding	12.36	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
31	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	12.17	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
32	IL6	Interleukin 6	Protein Coding	11.93	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
33	IL1R1	Interleukin 1 Receptor Type 1	Protein Coding	11.74	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
34	MAPT	Microtubule Associated Protein Tau	Protein Coding	11.45	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
35	GABRA5	Gamma-Aminobutyric Acid Type A Receptor Subunit Alpha5	Protein Coding	11.22	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
36	IL1RN	Interleukin 1 Receptor Antagonist	Protein Coding	10.92	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
37	RBFOX1	RNA Binding Fox-1 Homolog 1	Protein Coding	10.83	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
38	SHBG	Sex Hormone Binding Globulin	Protein Coding	10.44	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
39	PRL	Prolactin	Protein Coding	10.36	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
40	MIR132	MicroRNA 132	RNA Gene	10.18	DISEASES inferred ¹⁵ ¹⁵
41	ENTPD2	Ectonucleoside Triphosphate Diphosphohydrolase 2	Protein Coding	10.12	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
42	PDYN	Prodynorphin	Protein Coding	9.95	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	1686215
43	MIR124-1	MicroRNA 124-1	RNA Gene	9.64	DISEASES inferred ¹⁵ ¹⁵
44	GRM5	Glutamate Metabotropic Receptor 5	Protein Coding	9.52	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁴	16563443 17979788
45	KANSL1	KAT8 Regulatory NSL Complex Subunit 1	Protein Coding	9.25	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
46	MIR212	MicroRNA 212	RNA Gene	8.8	DISEASES inferred ¹⁵ ¹⁵
47	MIR9-1	MicroRNA 9-1	RNA Gene	8.54	DISEASES inferred ¹⁵ ¹⁵
48	MIR187	MicroRNA 187	RNA Gene	8.45	DISEASES inferred ¹⁵ ¹⁵
49	MIR23A	MicroRNA 23a	RNA Gene	8.2	DISEASES inferred ¹⁵ ¹⁵
50	MIR21	MicroRNA 21	RNA Gene	8.2	DISEASES inferred ¹⁵ ¹⁵

Sources

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>A	SNV	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

Sources

Expression for Focal Epilepsy

Search GEO for disease gene expression data for Focal Epilepsy.

Sources

Pathways for Focal Epilepsy

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

(show all 12)

#	Super pathways	Score	Top Affiliating Genes
1	Developmental Biology ⁶⁵ Show member pathways Axon guidance ⁶⁵	13.25	SPTAN1 SCN8A SCN2A SCN1A LGI1 GRIN2B
2	Transmission across Chemical Synapses ⁶⁵ Show member pathways Neuronal System ⁶⁵ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁵	12.73	GRIN2B GRIN2A GABRG2 CHRNB2 CHRNA4 CHRNA2
3	Circadian entrainment ³⁶ Show member pathways Cholinergic synapse ³⁶ Dopaminergic synapse ³⁶ Glutamatergic synapse ³⁶ Synaptic Neurotransmission: Glutamatergic Excitation ⁶⁴	12.47	SCN1A GRIN2B GRIN2A CHRNB2 CHRNA4 CACNA1H
4	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶³ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶³ Cholera Infection ⁶³	12.32	SCN8A SCN2A SCN1A KCNT1 GRIN2B GRIN2A
5	mTOR signaling pathway (KEGG) ³⁶ Show member pathways mTOR Signaling ⁶⁴	12.26	NPRL3 NPRL2 MTOR DEPDC5
6	Neuroscience ⁴	12.17	SCN8A SCN2A SCN1A GRIN2B GRIN2A CNTNAP2
7	L1CAM interactions ⁶⁵ Show member pathways CHL1 interactions ⁶⁵ Neurofascin interactions ⁶⁵ NrCAM interactions ⁶⁵	11.77	SPTAN1 SCN8A SCN2A SCN1A
8	Postsynaptic nicotinic acetylcholine receptors ⁶⁵ Show member pathways Acetylcholine Binding And Downstream Events ⁶⁵ Activation of Nicotinic Acetylcholine Receptors ⁶⁵ Highly calcium permeable nicotinic acetylcholine receptors ⁶⁵ Highly calcium permeable postsynaptic nicotinic acetylcholine receptors ⁶⁵ Highly sodium permeable acetylcholine nicotinic receptors ⁶⁵ Presynaptic nicotinic acetylcholine receptors ⁶⁵	11.56	CHRNB2 CHRNA4 CHRNA2
9	Phase 0 - rapid depolarisation ⁶⁵ Show member pathways Phase 2 - plateau phase ⁶⁵	11.51	SCN8A SCN2A SCN1A
10	Benzodiazepine Pathway, Pharmacodynamics ⁶⁰ Show member pathways Reuptake of GABA ⁶⁵	10.77	TSPO GABRG2
11	Interaction between L1 and Ankyrins ⁶⁵	10.73	SPTAN1 SCN8A SCN2A SCN1A
12	Nicotine addiction ³⁶	10.62	GRIN2B GRIN2A GABRG2 CHRNB2 CHRNA4

Sources

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

Sources for Focal Epilepsy

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Focal Epilepsy

Aliases & Classifications for Focal Epilepsy

MalaCards integrated aliases for Focal Epilepsy:

Classifications:

External Ids:

Summaries for Focal Epilepsy

Related Diseases for Focal Epilepsy

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

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

Symptoms & Phenotypes for Focal Epilepsy

UMLS symptoms related to Focal Epilepsy:

MGI Mouse Phenotypes related to Focal Epilepsy:

Drugs & Therapeutics for Focal Epilepsy

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

Interventional clinical trials:

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

Cochrane evidence based reviews: epilepsies, partial

Genetic Tests for Focal Epilepsy

Genetic tests related to Focal Epilepsy:

Anatomical Context for Focal Epilepsy

MalaCards organs/tissues related to Focal Epilepsy:

Publications for Focal Epilepsy

Articles related to Focal Epilepsy:

Genes for Focal Epilepsy

Genes related to Focal Epilepsy (3 elite genes):

Variations for Focal Epilepsy

ClinVar genetic disease variations for Focal Epilepsy:

Expression for Focal Epilepsy

Pathways for Focal Epilepsy

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

GO Terms for Focal Epilepsy

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

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

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

Sources for Focal Epilepsy

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