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

MCID: FCL014 MIFTS: 55	Focal Epilepsy Categories: Neuronal diseases
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Aliases & Classifications for Focal Epilepsy

MalaCards integrated aliases for Focal Epilepsy:

Name: Focal Epilepsy ¹² ²⁹ ²⁹ ⁶ ¹⁵

Epilepsies, Partial ⁴⁴ ⁷³

Localisation-Related Epilepsy ¹²

Partial Epilepsy ¹²

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:2234

MeSH ⁴⁴ D004828

NCIt ⁵⁰ C122812

SNOMED-CT ⁶⁸ 155041001 155044009 193007004 more

UMLS ⁷³ 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 epilepsies, partial, is related to epilepsy, nocturnal frontal lobe, 3 and epilepsy, focal, with speech disorder and with or without mental retardation, 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 Clobazam and Eslicarbazepine acetate 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 126)

#	Related Disease	Score	Top Affiliating Genes
1	epilepsy, nocturnal frontal lobe, 3	32.7	CHRNA4 CHRNB2
2	epilepsy, focal, with speech disorder and with or without mental retardation	32.4	GRIN2A GRIN2B
3	epilepsy, nocturnal frontal lobe, 1	32.0	CHRNA2 CHRNA4 CHRNB2 GABRG2 SCN1A
4	encephalopathy	30.4	CDKL5 SCN1A SPTAN1
5	febrile seizures	30.3	CHRNA4 CHRNB2 CPA6 GABRG2 SCN1A
6	status epilepticus	30.2	GRIN2B LGI1 SCN1A
7	attention deficit-hyperactivity disorder	30.1	CHRNA4 CNTNAP2 GRIN2A GRIN2B
8	encephalitis	29.8	IL1B LGI1 TSPO
9	epileptic encephalopathy, early infantile, 6	29.5	CDKL5 GABRG2 KCNT1 SCN1A SCN2A SCN8A
10	epilepsy	29.5	CDKL5 CHRNA2 CHRNA4 CHRNB2 CPA6 DEPDC5
11	west syndrome	29.2	CDKL5 GRIN2B KCNT1 SCN1A SCN2A SCN8A
12	benign epilepsy with centrotemporal spikes	28.9	CNTNAP2 CPA6 DEPDC5 GABRG2 GRIN2A KCNT1
13	epilepsy, idiopathic generalized 10	28.8	CHRNA4 CPA6 GABRG2 LGI1 SCN1A SCN2A
14	autosomal dominant partial epilepsy with auditory features	12.3
15	complex partial epilepsy	12.1
16	benign infantile focal epilepsy with midline spikes and waves during sleep	12.1
17	simple partial epilepsy	12.0
18	epilepsy, partial, with pericentral spikes	12.0
19	focal epilepsy-intellectual disability-cerebro-cerebellar malformation	12.0
20	benign partial epilepsy with secondarily generalized seizures in infancy	11.9
21	benign partial epilepsy of infancy with complex partial seizures	11.9
22	epilepsy, partial, familial	11.9
23	myoclonus epilepsy partial seizure	11.9
24	pitt-hopkins-like syndrome 1	11.9
25	epilepsy, familial focal, with variable foci 1	11.7
26	centralopathic epilepsy	11.5
27	epilepsy-aphasia spectrum	11.1
28	epilepsy, nocturnal frontal lobe, 4	11.0
29	epilepsy, nocturnal frontal lobe, 5	11.0
30	autosomal dominant nocturnal frontal lobe epilepsy 2	11.0	CHRNA4 CHRNB2
31	myoclonic astatic epilepsy	10.9	GRIN2B SCN1A
32	landau-kleffner syndrome	10.9	GRIN2A TBC1D24
33	epilepsy with generalized tonic-clonic seizures	10.8	SCN1A SCN2A TBC1D24
34	seizures, benign familial infantile, 1	10.8
35	epilepsy, nocturnal frontal lobe, 2	10.8
36	epilepsy, familial focal, with variable foci 2	10.8
37	epilepsy, familial focal, with variable foci 3	10.8
38	febrile infection-related epilepsy syndrome	10.8
39	benign familial infantile epilepsy	10.8	CHRNA2 SCN2A SCN8A
40	seizure disorder	10.8	CDKL5 SCN1A SCN2A
41	speech disorder	10.8	CNTNAP2 GRIN2A GRIN2B
42	myoclonic epilepsy of infancy	10.8	GABRG2 SCN1A SCN8A
43	tobacco addiction	10.8	CHRNA2 CHRNA4 CHRNB2
44	early myoclonic encephalopathy	10.8	CDKL5 GABRG2 SCN1A
45	childhood electroclinical syndrome	10.8	GABRG2 GRIN2A TBC1D24
46	adolescence-adult electroclinical syndrome	10.7	GABRG2 SCN1A TBC1D24
47	malignant migrating partial seizures of infancy	10.7	KCNT1 SCN1A SCN2A TBC1D24
48	neonatal period electroclinical syndrome	10.7	CDKL5 SCN1A SCN2A TBC1D24
49	disease of mental health	10.7	CHRNA4 GRIN2A GRIN2B
50	autosomal dominant nocturnal frontal lobe epilepsy	10.6	CHRNA2 CHRNA4 CHRNB2 DEPDC5 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:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological	MP:0005386	10.2	TSPO CHRNA4 KCNT1 CHRNB2 LGI1 MTOR
2	growth/size/body region	MP:0005378	10.07	TSPO SCN8A SPTAN1 CHRNB2 LGI1 MTOR
3	mortality/aging	MP:0010768	9.97	TSPO SCN8A SPTAN1 CHRNA4 CHRNB2 LGI1
4	nervous system	MP:0003631	9.89	SPTAN1 KCNT1 CHRNB2 LGI1 MTOR CNTNAP2
5	normal	MP:0002873	9.23	SPTAN1 TSPO KCNT1 CHRNB2 MTOR SCN1A

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Drugs & Therapeutics for Focal Epilepsy

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

(show top 50) (show all 101)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Clobazam

Approved, Illicit

Phase 4

22316-47-8

2789

Eslicarbazepine acetate

Approved

Phase 4,Phase 3,Phase 2,Phase 1

75970-99-9, 236395-14-5

123618

Oxcarbazepine

Approved

Phase 4,Phase 3,Phase 1

28721-07-5

34312

Lacosamide

Approved

Phase 4,Phase 3,Phase 2

860352-01-8, 175481-36-4

219078

Carbamazepine

Approved, Investigational

Phase 4,Phase 3,Phase 1

298-46-4

2554

Lamotrigine

Approved, Investigational

Phase 4,Phase 3

84057-84-1

3878

Piracetam

Approved, Investigational

Phase 4,Phase 3

7491-74-9

Zonisamide

Approved, Investigational

Phase 4,Phase 3

68291-97-4

5734

Gabapentin

Approved, Investigational

Phase 4

60142-96-3

3446

Pregabalin

Approved, Illicit, Investigational

Phase 4,Phase 3,Phase 2

148553-50-8

5486971

Tiagabine

Approved, Investigational

Phase 4

115103-54-3

60648

Topiramate

Approved

Phase 4,Phase 3,Phase 2

97240-79-4

5284627

gamma-Aminobutyric acid

Approved, Investigational

Phase 4

56-12-2

119

Ezogabine

Approved, Investigational

Phase 4

150812-12-7

121892

Vigabatrin

Approved

Phase 4,Not Applicable

68506-86-5, 60643-86-9

5665

Phenobarbital

Approved, Investigational

Phase 4

50-06-6

4763

Valproic Acid

Approved, Investigational

Phase 4,Phase 3

99-66-1

3121

Etiracetam

Investigational

Phase 4,Phase 3,Phase 2

33996-58-6

Anticonvulsants

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Diuretics, Potassium Sparing

Phase 4,Phase 3,Phase 2,Phase 1

Sodium Channel Blockers

Phase 4,Phase 3,Phase 2,Phase 1

Cytochrome P-450 CYP3A Inducers

Phase 4,Phase 3,Phase 1

Analgesics

Phase 4,Phase 3,Phase 2,Phase 1

Analgesics, Non-Narcotic

Phase 4,Phase 3,Phase 1

Antimanic Agents

Phase 4,Phase 3,Phase 1

calcium channel blockers

Phase 4,Phase 3,Phase 2

Calcium, Dietary

Phase 4,Phase 3,Phase 2

Central Nervous System Depressants

Phase 4,Phase 3,Phase 2,Phase 1

Excitatory Amino Acid Antagonists

Phase 4,Phase 3,Not Applicable

Excitatory Amino Acids

Phase 4,Phase 3,Not Applicable

Neuroprotective Agents

Phase 4,Phase 3,Phase 2

Neurotransmitter Agents

Phase 4,Phase 3,Phase 2,Not Applicable

Nootropic Agents

Phase 4,Phase 3,Phase 2

Peripheral Nervous System Agents

Phase 4,Phase 3,Phase 2,Phase 1

Protective Agents

Phase 4,Phase 3,Phase 2

Psychotropic Drugs

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Tranquilizing Agents

Phase 4,Phase 3,Phase 2,Phase 1

Antioxidants

Phase 4,Phase 3

Anti-Anxiety Agents

Phase 4,Phase 3,Phase 2

Anti-Obesity Agents

Phase 4,Phase 3,Phase 2

Antiparkinson Agents

Phase 4,Not Applicable

GABA Agents

Phase 4,Phase 3,Not Applicable

GABA Agonists

Phase 4

Neurotransmitter Uptake Inhibitors

Phase 4,Not Applicable

GABA Modulators

Phase 4

Hypnotics and Sedatives

Phase 4

Benzocaine

Approved, Investigational

Phase 3

1994-09-7, 94-09-7

2337

Naloxone

Approved, Vet_approved

Phase 3

465-65-6

5284596

tannic acid

Approved, Nutraceutical

Phase 3

Pharmaceutical Solutions

Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 174)

#	Name	Status	NCT ID	Phase	Drugs
1	Clobazam Adjunctive Treatment of Adults With Refractory Focal Epilepsy	Unknown status	NCT02726919	Phase 4	Clobazam
2	Randomized Controlled Trial to Assess Effects of Lacosamide on Sleep and Wake in Adults With Focal Epilepsy	Completed	NCT01190098	Phase 4	Lacosamide;Placebo
3	Study on the Treatment of Elderly Patients With Older and Newer Antiepileptic Drugs	Completed	NCT00438451	Phase 4	Levetiracetam;Carbamazepine;Lamotrigine
4	Open-label, Multi-center Trial of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy	Completed	NCT01140867	Phase 4	zonisamide
5	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
6	Cognitive and Behavioral Effects of Lacosamide	Completed	NCT01175954	Phase 4	Lacosamide;Lacosamide
7	Levetiracetam Versus Oxcarbazepine as Monotherapy to Evaluate Efficacy and Safety in Subjects With Newly or Recently Diagnosed Partial Epilepsy	Completed	NCT01498822	Phase 4	Levetiracetam;Oxcarbazepine
8	Trial to Evaluate the Safety and Efficacy of Keppra After Conversion to Mono-therapy in Subjects With Partial Epilepsy	Completed	NCT00630357	Phase 4	Levetiracetam (Keppra)
9	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
10	Trial to Assess Optimized Dosage of Lacosamide as add-on Therapy in Patients With Partial Onset Seizure	Completed	NCT01235403	Phase 4	Lacosamide
11	Trial to Assess Lacosamide as the First add-on Anti-epileptic Drug Treatment in Patients With Partial-onset Seizures	Completed	NCT00955357	Phase 4	Lacosamide
12	S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy	Completed	NCT00630968	Phase 4	Levetiracetam (Keppra)
13	Open Label Safety and Efficacy Study of Levetiracetam in Patients With Epilepsy	Completed	NCT00160654	Phase 4	Levetiracetam
14	Safety and Efficacy of Oxcarbazepine Monotherapy in Adults With Partial Seizures	Completed	NCT00275925	Phase 4	Oxcarbazepine
15	Transcranial Direct Current Stimulation, Treatment of Childhood Drug-Resistant Lennox-Gastaut Syndrome, A Pilot Study	Completed	NCT02731300	Phase 4
16	Lamotrigine Cognitive Function Study in Adult Untreated Epilepsies	Completed	NCT00896987	Phase 4	lamotrigine (Lamictal);Carbamazepine (Tegretol)
17	Comparative Study Of Pregabalin And Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures	Completed	NCT00537940	Phase 4	Pregabalin;Gabapentin
18	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
19	Perampanel for Treatment of Adults With Refractory Focal Epilepsy : a Pilot Study.	Terminated	NCT02727101	Phase 4	perampanel
20	Study Comparing Best Medical Practice With or Without VNS Therapy in Pharmacoresistant Partial Epilepsy Patients	Terminated	NCT00522418	Phase 4	Best Medical Practive
21	Effect on Anxiety in Partial Epilepsy Patients Treated With Pregabalin	Terminated	NCT01128712	Phase 4	Pregabalin;Pregabalin
22	Pregabalin In Partial Seizures (PREPS): An Open-Label, Multicenter Add On Therapy Trial	Terminated	NCT00407797	Phase 4	Pregabalin
23	Sabril for Complex Partial Seizures in Adult Tolerability Study (TS) Patients	Terminated	NCT01266291	Phase 4	vigabatrin
24	Safety and Tolerability of OXC XR as Adjunctive Therapy in Subjects With Refractory Partial Epilepsy	Completed	NCT00908349	Phase 3	Oxcarbazepine XR
25	Efficacy and Safety of Eslicarbazepine Acetate as Adjunctive Therapy for Refractory Partial Epilepsy	Completed	NCT00957372	Phase 3	eslicarbazepine acetate;placebo (Part I);ESL - Open-label Extension (Part II)
26	Efficacy and Safety Study of BIA 2-093 in Combination With Other Anti-Epileptic Drugs to Treat Partial Epilepsy	Completed	NCT00957047	Phase 3	eslicarbazepine acetate;placebo;ESL - Part II
27	Safety & Efficacy of Eslicarbazepine Monotherapy in Sub.w/Partial Epilepsy Not Well Controlled by Current Antiepileptic	Completed	NCT01091662	Phase 3	Eslicarbazepine acetate 1600 mg;Eslicarbazepine acetate 1200 mg
28	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
29	Efficacy and Safety of Levetiracetam in Partial Seizures Control, With or Without Secondary Generalization	Completed	NCT01392768	Phase 3	Levetiracetam;Placebo
30	A 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
31	Study Of The Safety And Efficacy Of Lyrica In The Treatment Of Newly Diagnosed Partial Epilepsy	Completed	NCT00280059	Phase 3	Pregabalin;Lamotrigine
32	An Open Label Study of Levetiracetam Monotherapy in Patients With Newly Diagnosed Focal Epilepsy	Completed	NCT01506882	Phase 3	Levetiracetam (LEV)
33	Open Label Safety and Efficacy Study of Levetiracetam in Korean Patients With Epilepsy	Completed	NCT00160628	Phase 3	Levetiracetam
34	Determine Safety and Efficacy of Long-term Oral Lacosamide in Patients With Partial Seizures	Completed	NCT00522275	Phase 3	lacosamide
35	Efficacy and Safety of Eslicarbazepine Acetate as Adjunctive Therapy for Refractory Partial Seizures	Completed	NCT00957684	Phase 3	eslicarbazepine acetate;placebo
36	Conversion To Monotherapy With Lamictal Extended Release Tablets For Treatment Of Partial Epilepsy	Completed	NCT00355082	Phase 3	lamotrigine, 300 mg/day;lamotrigine, 250 mg/day
37	Topiramate as Adjunctive Therapy in Infants 1-24 Months for the Control of Partial Onset Seizures	Completed	NCT00113815	Phase 3	topiramate;topiramate;topiramate;placebo
38	Safety of Intravenous Lacosamide Dose Followed by Twice Daily Oral Lacosamide in Subjects With Partial-onset Seizures	Completed	NCT00655551	Phase 3	lacosamide;lacosamide;lacosamide
39	Study to Assess the Long-term Safety of Oral Lacosamide in Subjects With Partial-onset Seizures	Completed	NCT00655486	Phase 3	lacosamide
40	Brivaracetam Efficacy and Safety Study in Subjects With Partial Onset Seizures	Completed	NCT01261325	Phase 3	Placebo;Brivaracetam;Brivaracetam;Antiepileptic drugs with market authorization available per country
41	Combined Role of Position Emission Tomography (PET) and Magnetoencephalography (MEG) in Nonlesional Epilepsy	Completed	NCT00741559	Phase 3
42	Pregabalin Versus Levetiracetam In Partial Seizures	Completed	NCT00537238	Phase 3	pregabalin;levetiracetam
43	A Study of the Effectiveness and Safety of Topiramate Monotherapy in Patients With Recently Diagnosed Partial-Onset Seizure	Completed	NCT00230698	Phase 3	topiramate
44	Extension Study Of Long-Term Safety And Efficacy Of Pregabalin As Monotherapy (Lyrica) In Patients With Partial Seizures	Completed	NCT00596466	Phase 3	pregabalin
45	A Study of the Effectiveness and Safety of Topiramate in the Treatment of Children With Epilepsy	Completed	NCT00236743	Phase 3	topiramate
46	Effect of Brivaracetam (BRV) on Nonpsychotic Behavioral Side Effects in Subjects Treated Previously With Levetiracetam (LEV)	Completed	NCT01653262	Phase 3	Brivaracetam
47	Once-A-Day Pregabalin For Partial Seizures	Completed	NCT01262677	Phase 3	pregabalin;pregabalin;pregabalin;pregabalin;pregabalin;pregabalin;placebo
48	Prospective Pilot Study on Metabolism and Weight Changes in Topiramate-Treated Epilepsy Patients	Completed	NCT00236886	Phase 3	topiramate
49	A Study of the Efficacy and Safety of Topiramate Treatment in Patients With Epilepsy	Completed	NCT00266591	Phase 3	topiramate
50	Double-blind, Randomized Study Evaluating the Efficacy and Safety of Brivaracetam in Adults With Partial Onset Seizures	Completed	NCT00490035	Phase 3	Brivaracetam;Brivaracetam;Brivaracetam

Search NIH Clinical Center for Focal Epilepsy

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :

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

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Genetic Tests for Focal Epilepsy

Genetic tests related to Focal Epilepsy:

#	Genetic test	Affiliating Genes
1	Focal Epilepsy ²⁹

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Anatomical Context for Focal Epilepsy

MalaCards organs/tissues related to Focal Epilepsy:

⁴¹

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

Sources

Publications for Focal Epilepsy

Articles related to Focal Epilepsy:

(show top 50) (show all 688)

#	Title	Authors	Year
1	Re: Field testing of ICHD-3 beta criteria of periictal headache in patients with focal epilepsy - a prospective diary study. ( 29754499 )	Zawadzka M....Pilarska E.	2018
2	Focal Epilepsy in a Teenager With Facial Atrophy and Hair Loss. ( 29961525 )	English S.W....Wong-Kisiel L.C.	2018
3	Losigamone add-on therapy for focal epilepsy. ( 29355908 )	Xiao Y....Luo H.	2018
4	Progressive topological disorganization of brain network in focal epilepsy. ( 29344935 )	Park K.M....Kim S.E.	2018
5	Magnetoencephalographic imaging of ictal high-frequency oscillations (80-200A Hz) in pharmacologically resistant focal epilepsy. ( 29111591 )	Velmurugan J....Sinha S.	2018
6	Spike-related haemodynamic responses overlap with high frequency oscillations in patients with focal epilepsy. ( 29360943 )	GonzA!lez OtA!rula K.A....Gotman J.	2018
7	Effect of modified Atkins diet in adults with drug-resistant focal epilepsy: A randomized clinical trial. ( 29901816 )	Kverneland M....Nakken K.O.	2018
8	Antiepileptic drug reduction and increased risk of stimulation-evoked focal to bilateral tonic-clonic seizure during cortical stimulation in patients with focal epilepsy. ( 29414538 )	Hampel K.G....Villanueva V.	2018
9	Indirect comparison of third-generation antiepileptic drugs as adjunctive treatment for uncontrolled focal epilepsy. ( 29197667 )	Li-Na Z....Ling L.	2018
10	Meta-analyses of newer antiepileptic drugs as adjunct for treatment of focal epilepsy in children. ( 29220742 )	Mohd-Tahir N.A....Li S.C.	2018
11	Significance of FDG-PET Hypermetabolism in Children with Intractable Focal Epilepsy. ( 29672310 )	Schur S....Laoprasert P.	2018
12	Focal Epilepsy: When the Brakes on the Network Go Kaput. ( 29671841 )	Maguire J.	2018
13	Electroencephalographic and Electrocardiographic Effect of Intravenous Lacosamide in Refractory Focal Epilepsy. ( 29851686 )	Huang C.W....McLachlan R.S.	2018
14	Accelerated long-term forgetting in focal epilepsies with special consideration given to patients with diagnosed and suspected limbic encephalitis. ( 29475601 )	Helmstaedter C....Witt J.A.	2018
15	The link between structural connectivity and neurocognition illustrated by focal epilepsy. ( 29620009 )	Roger E....Baciu M.	2018
16	Integrating artificial intelligence with real-time intracranial EEG monitoring to automate interictal identification of seizure onset zones in focal epilepsy. ( 29855436 )	Varatharajah Y....Worrell G.	2018
17	Lacosamide may improve cognition in patients with focal epilepsy: EpiTrack to compare cognitive side effects of lacosamide and carbamazepine. ( 29977793 )	Liguori C....Placidi F.	2018
18	Comparative efficacy of unique antiepileptic drug regimens in focal epilepsy: An exploratory study. ( 29571152 )	Legge A.W....Choi H.	2018
19	Evidence on the efficacy of primary radiosurgery or stereotactic radiotherapy for drug-resistant non-neoplastic focal epilepsy in adults: A systematic review. ( 29414140 )	Eekers D.B.P....Troost E.G.C.	2018
20	Final safety, tolerability, and seizure outcomes in patients with focal epilepsy treated with adjunctive perampanel for up to 4 years in an open-label extension of phase III randomized trials: Study 307. ( 29574701 )	Krauss G.L....Laurenza A.	2018
21	The usefulness of stereo-electroencephalography (SEEG) in the surgical management of focal epilepsy associated with &quot;hidden&quot; temporal pole encephalocele: a case report and literature review. ( 29039074 )	de Souza J.P.S.A.S....Gonzalez-Martinez J.	2018
22	Refractory focal epilepsy in a paediatric patient with primary familial brain calcification. ( 29448117 )	Knowles J.K....Baumer F.M.	2018
23	Comparison of lamotrigine and oxcarbazepine monotherapy for pediatric focal epilepsy: An observational study. ( 29957441 )	Hur Y.J.	2018
24	Computer-assisted planning for the insertion of stereoelectroencephalography electrodes for the investigation of drug-resistant focal epilepsy: an external validation study. ( 29652234 )	Vakharia V.N....Duncan J.S.	2018
25	People with epilepsy are diagnosed most often with unspecified epilepsy, followed by focal epilepsy, generalized convulsive epilepsy, and generalized nonconvulsive epilepsy-US MarketScan data, 2010-2015. ( 29249447 )	Sapkota S....Zack M.M.	2018
26	KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. ( 29352316 )	Myers K.A....Hildebrand M.S.	2018
27	DEPDC5 takes a second hit in familial focal epilepsy. ( 29708509 )	Anderson M.P.	2018
28	Pearls &amp; Oy-sters: Alternating hemiplegia of childhood mimics focal epilepsy and paroxysmal dyskinesia in infancy. ( 29967203 )	Dhakar M.B....Bamford N.S.	2018
29	Utility of additional dedicated high-resolution 3T MRI in children with medically refractory focal epilepsy. ( 29398181 )	Ahmed R....Widjaja E.	2018
30	Focal epilepsy as the revealing symptom of 5,10-methylenetetrahydrofolate reductase deficiency in a young adult. ( 29366491 )	Mezouar N....Gales A.	2018
31	Seizure freedom following surgery for multi-focal epilepsy due to cerebral malaria. ( 29692971 )	Piromruen P....Limotai C.	2018
32	Stereotyped high-frequency oscillations discriminate seizure onset zones and critical functional cortex in focal epilepsy. ( 29394328 )	Liu S....Ince N.F.	2018
33	Histological and MRI markers of white matter damage in focal epilepsy. ( 29227798 )	Deleo F....Bernasconi N.	2017
34	A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. ( 28182669 )	Gao K....Jiang Y.	2017
35	Persistent uncrossed corticospinal connections in patients with intractable focal epilepsy. ( 28830029 )	Kaye H.L....Rotenberg A.	2017
36	Understanding the burden of focal epilepsy as a function of seizure frequency in the United States, Europe, and Brazil. ( 29588949 )	Gupta S....Kwan P.	2017
37	Teaching Video Neuro<i>Images</i>: Epilepsia partialis continua in an adolescent with preexisting focal epilepsy. ( 29203537 )	Lagan N.C....King M.D.	2017
38	Asystole in focal epilepsy complicating a traumatic subdural hematoma. ( 28765766 )	Lau Y.M....Lau C.P.	2017
39	Corrigendum to 'Cost-Utility of Video-Electroencephalography Monitoring Followed by Surgery in Adults with Drug-Resistant Focal Epilepsy in Thailand' [World Neurosurgery 98 (2017) 750-760]. ( 28633983 )	Kitwitee P....Limwattananon C.	2017
40	Newer antiepileptic drugs compared to levetiracetam as adjunctive treatments for uncontrolled focal epilepsy: An indirect comparison. ( 28854405 )	Zhu L.N....Liu L.	2017
41	Bimodal coupling of ripples and slower oscillations during sleep in patients with focal epilepsy. ( 28948998 )	Song I....Weiss S.A.	2017
42	Seizure activity per se does not induce tissue damage markers in human neocortical focal epilepsy. ( 28749594 )	Rossini L....De Curtis M.	2017
43	Focal epilepsy with paroxysmal pain due to somatic injury. ( 28652224 )	Yu T....Li Y.	2017
44	Combined electroencephalography-functional magnetic resonance imaging and electrical source imaging improves localization of pediatric focal epilepsy. ( 28749544 )	Centeno M....Carmichael D.W.	2017
45	Adjunctive lacosamide for focal epilepsy: an open-label trial evaluating the impact of flexible titration and dosing on safety and seizure outcomes. ( 28597842 )	Baulac M....Vlaicu M.	2017
46	High-frequency oscillations detected in ECoG recordings correlate with cavernous malformation and seizure-free outcome in a child with focal epilepsy: A case report. ( 29588956 )	Liu S....Ince N.F.	2017
47	Comparison between Scalp EEG and Behind-the-Ear EEG for Development of a Wearable Seizure Detection System for Patients with Focal Epilepsy. ( 29295522 )	Gu Y....Hunyadi B.	2017
48	Understanding Lennox-Gastaut syndrome: insights from focal epilepsy patients with Lennox-Gastaut features. ( 28584915 )	Dupont S....Nguyen-Michel V.H.	2017
49	Can we predict drug response by volumes of the corpus callosum in newly diagnosed focal epilepsy? ( 28828212 )	Kim H.C....Park K.M.	2017
50	Ictal 18F-FDG PET/MRI in a Patient With Cortical Heterotopia and Focal Epilepsy. ( 28806243 )	Calabria F.F....Quattrone A.	2017

Sources

Genes for Focal Epilepsy

Genes related to Focal Epilepsy (2 elite genes):

(show all 34)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	SCN1A	Sodium Voltage-Gated Channel Alpha Subunit 1	Protein Coding	442.18	Pathogenic ⁶ DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Variants (show sections)	18632234 18330841 19339291
2	CDKL5	Cyclin Dependent Kinase Like 5	Protein Coding	411.09	Pathogenic ⁶ DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
3	GRIN2A	Glutamate Ionotropic Receptor NMDA Type Subunit 2A	Protein Coding	41.47	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries Variants (show sections)
4	TSPO	Translocator Protein	Protein Coding	38.09	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	10390953 1317662 8956845 (more) 9795703 1646108 8773600 12552355 12948617 9397014 11270234 15758035 8929173 19786696
5	CNTNAP2	Contactin Associated Protein Like 2	Protein Coding	35.39	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Variants (show sections)
6	DEPDC5	DEP Domain Containing 5	Protein Coding	34.6	DISEASES inferred ¹⁵ GeneCards inferred via : Publications Summaries (show sections)
7	CHRNA4	Cholinergic Receptor Nicotinic Alpha 4 Subunit	Protein Coding	33.98	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders (show sections)	10446744 9758605 11121188 (more) 9259383 12887442 19577488
8	KCNT1	Potassium Sodium-Activated Channel Subfamily T Member 1	Protein Coding	33.16	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders Variants (show sections)
9	SPTAN1	Spectrin Alpha, Non-Erythrocytic 1	Protein Coding	32.13	Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Variants (show sections)
10	GABRG2	Gamma-Aminobutyric Acid Type A Receptor Gamma2 Subunit	Protein Coding	29.42	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	16256272
11	LGI1	Leucine Rich Glioma Inactivated 1	Protein Coding	27.96	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	15079011 18711109 12771268 (more) 15816978 15857855 15349881 17562837 17067999 15009222 19191227 16990550 18563303 16518856 20133599 15079010 18355961
12	CHRNB2	Cholinergic Receptor Nicotinic Beta 2 Subunit	Protein Coding	25.5	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
13	CHRNA2	Cholinergic Receptor Nicotinic Alpha 2 Subunit	Protein Coding	25.01	DISEASES inferred ¹⁵ GeneCards inferred via : Disorders (show sections)
14	TBC1D24	TBC1 Domain Family Member 24	Protein Coding	22.81	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
15	SCN2A	Sodium Voltage-Gated Channel Alpha Subunit 2	Protein Coding	22.7	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
16	SCN8A	Sodium Voltage-Gated Channel Alpha Subunit 8	Protein Coding	22.48	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
17	GRIN2B	Glutamate Ionotropic Receptor NMDA Type Subunit 2B	Protein Coding	22.24	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
18	IL1B	Interleukin 1 Beta	Protein Coding	22.15	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
19	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	22.14	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
20	CPA6	Carboxypeptidase A6	Protein Coding	22.08	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
21	NPRL2	NPR2 Like, GATOR1 Complex Subunit	Protein Coding	21.99	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
22	NPRL3	NPR3 Like, GATOR1 Complex Subunit	Protein Coding	21.95	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
23	SCN3A	Sodium Voltage-Gated Channel Alpha Subunit 3	Protein Coding	11.55	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
24	SLC2A1	Solute Carrier Family 2 Member 1	Protein Coding	11.47	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
25	CACNA1H	Calcium Voltage-Gated Channel Subunit Alpha1 H	Protein Coding	11.1	DISEASES inferred ¹⁵ GeneCards inferred via : Variants (show sections)
26	TSC2	TSC Complex Subunit 2	Protein Coding	11.01	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
27	GABRD	Gamma-Aminobutyric Acid Type A Receptor Delta Subunit	Protein Coding	10.7	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
28	KCNA1	Potassium Voltage-Gated Channel Subfamily A Member 1	Protein Coding	10.67	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	16100538 10355668
29	IL6	Interleukin 6	Protein Coding	10.6	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
30	GABRA5	Gamma-Aminobutyric Acid Type A Receptor Alpha5 Subunit	Protein Coding	10.42	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
31	TSC1	TSC Complex Subunit 1	Protein Coding	10.34	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵	17948886 10937131 12536368 (more) 18177362 12536053
32	SHBG	Sex Hormone Binding Globulin	Protein Coding	10.25	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
33	IL1R1	Interleukin 1 Receptor Type 1	Protein Coding	10	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)
34	PRL	Prolactin	Protein Coding	9.79	DISEASES inferred ¹⁵ GeneCards inferred via : Publications (show sections)

Sources

Variations for Focal Epilepsy

ClinVar genetic disease variations for Focal Epilepsy:

⁶

(show all 16)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SCN1A	NM_006920.4(SCN1A): c.4753C> T (p.Arg1585Cys)	single nucleotide variant	Pathogenic	rs121917993	GRCh37	Chromosome 2, 166850722: 166850722
2	SCN1A	NM_006920.4(SCN1A): c.4753C> T (p.Arg1585Cys)	single nucleotide variant	Pathogenic	rs121917993	GRCh38	Chromosome 2, 165994212: 165994212
3	NID1	NM_002508.2(NID1): c.3385+1G> A	single nucleotide variant	Likely pathogenic	rs730882225	GRCh38	Chromosome 1, 235980495: 235980495
4	NID1	NM_002508.2(NID1): c.3385+1G> A	single nucleotide variant	Likely pathogenic	rs730882225	GRCh37	Chromosome 1, 236143795: 236143795
5	SPTAN1	NM_001130438.2(SPTAN1): c.6908_6916delACCAGCTGG (p.Asp2303_Leu2305del)	deletion	Pathogenic/Likely pathogenic	rs796053340	GRCh38	Chromosome 9, 128632272: 128632280
6	SPTAN1	NM_001130438.2(SPTAN1): c.6908_6916delACCAGCTGG (p.Asp2303_Leu2305del)	deletion	Pathogenic/Likely pathogenic	rs796053340	GRCh37	Chromosome 9, 131394551: 131394559
7	GRIN2A	NM_000833.4(GRIN2A): c.3827C> G (p.Ala1276Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145063086	GRCh38	Chromosome 16, 9763717: 9763717
8	GRIN2A	NM_000833.4(GRIN2A): c.3827C> G (p.Ala1276Gly)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs145063086	GRCh37	Chromosome 16, 9857574: 9857574
9	SCN2A	NM_021007.2(SCN2A): c.571T> G (p.Trp191Gly)	single nucleotide variant	Likely pathogenic	rs1057519525	GRCh37	Chromosome 2, 166165270: 166165270
10	SCN2A	NM_021007.2(SCN2A): c.571T> G (p.Trp191Gly)	single nucleotide variant	Likely pathogenic	rs1057519525	GRCh38	Chromosome 2, 165308760: 165308760
11	CACNA1H	NM_021098.2(CACNA1H): c.1546C> T (p.His516Tyr)	single nucleotide variant	Uncertain significance	rs1057519554	GRCh38	Chromosome 16, 1201996: 1201996
12	CACNA1H	NM_021098.2(CACNA1H): c.1546C> T (p.His516Tyr)	single nucleotide variant	Uncertain significance	rs1057519554	GRCh37	Chromosome 16, 1251996: 1251996
13	MECP2	NM_004992.3(MECP2): c.915G> T (p.Lys305Asn)	single nucleotide variant	Likely pathogenic	rs1057519543	GRCh37	Chromosome X, 153296364: 153296364
14	MECP2	NM_004992.3(MECP2): c.915G> T (p.Lys305Asn)	single nucleotide variant	Likely pathogenic	rs1057519543	GRCh38	Chromosome X, 154030913: 154030913
15	CDKL5	NM_003159.2(CDKL5): c.2641C> T (p.Gln881Ter)	single nucleotide variant	Pathogenic	rs1057519541	GRCh37	Chromosome X, 18646635: 18646635
16	CDKL5	NM_003159.2(CDKL5): c.2641C> T (p.Gln881Ter)	single nucleotide variant	Pathogenic	rs1057519541	GRCh38	Chromosome X, 18628515: 18628515

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:

#	Super pathways	Score	Top Affiliating Genes
1	Transmission across Chemical Synapses ⁶⁶ Show member pathways Neuronal System ⁶⁶ Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell ⁶⁶	12.7	CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B
2	Neuropathic Pain-Signaling in Dorsal Horn Neurons ⁶⁴ Show member pathways Aldosterone Signaling in Epithelial Cells ⁶⁴ Cholera Infection ⁶⁴	12.32	GRIN2A GRIN2B KCNT1 SCN1A SCN2A SCN8A
3	Neuroscience ⁴	12.17	CNTNAP2 GRIN2A GRIN2B SCN1A SCN2A SCN8A
4	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶	11.72	SCN1A SCN2A SCN8A SPTAN1
5	Activation of Nicotinic Acetylcholine Receptors ⁶⁶ Show member pathways Acetylcholine Binding And Downstream Events ⁶⁶ Highly calcium permeable nicotinic acetylcholine receptors ⁶⁶ Highly calcium permeable postsynaptic nicotinic acetylcholine receptors ⁶⁶ Highly sodium permeable acetylcholine nicotinic receptors ⁶⁶ Postsynaptic nicotinic acetylcholine receptors ⁶⁶ Presynaptic nicotinic acetylcholine receptors ⁶⁶	11.54	CHRNA2 CHRNA4 CHRNB2
6	Phase 0 - rapid depolarisation ⁶⁶ Show member pathways Phase 2 - plateau phase ⁶⁶	11.46	SCN1A SCN2A SCN8A
7	SALM protein interactions at the synapses ⁶⁶	10.8	GRIN2A GRIN2B
8	Interaction between L1 and Ankyrins ⁶⁶	10.73	SCN1A SCN2A SCN8A SPTAN1
9	Benzodiazepine Pathway, Pharmacodynamics ⁶¹ Show member pathways Reuptake of GABA ⁶⁶	10.71	GABRG2 TSPO
10	Nicotine addiction ³⁷	10.62	CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B

Sources

GO Terms for Focal Epilepsy

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

(show all 13)

#	Name	GO ID	Score	Top Affiliating Genes
1	neuron projection	GO:0043005	9.88	CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B
2	axon	GO:0030424	9.83	CNTNAP2 GABRG2 SCN1A SCN2A
3	postsynaptic membrane	GO:0045211	9.63	CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B
4	cell junction	GO:0030054	9.61	CHRNA2 CHRNA4 CHRNB2 CNTNAP2 GABRG2 GRIN2A
5	acetylcholine-gated channel complex	GO:0005892	9.54	CHRNA2 CHRNA4 CHRNB2
6	node of Ranvier	GO:0033268	9.5	SCN1A SCN2A SCN8A
7	axon initial segment	GO:0043194	9.48	SCN1A SCN8A
8	NMDA selective glutamate receptor complex	GO:0017146	9.46	GRIN2A GRIN2B
9	sodium channel complex	GO:0034706	9.43	SCN1A SCN2A
10	voltage-gated sodium channel complex	GO:0001518	9.43	SCN1A SCN2A SCN8A
11	synapse	GO:0045202	9.23	CDKL5 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A
12	membrane	GO:0016020	10.37	CHRNA2 CHRNA4 CHRNB2 CNTNAP2 DEPDC5 GABRG2
13	integral component of plasma membrane	GO:0005887	10.05	CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B

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

(show all 27)

#	Name	GO ID	Score	Top Affiliating Genes
1	MAPK cascade	GO:0000165	9.92	GRIN2A GRIN2B IL1B SPTAN1
2	brain development	GO:0007420	9.91	CNTNAP2 GRIN2A GRIN2B MTOR
3	chemical synaptic transmission	GO:0007268	9.85	CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B
4	response to ethanol	GO:0045471	9.81	CHRNB2 GRIN2A GRIN2B
5	sodium ion transmembrane transport	GO:0035725	9.77	SCN1A SCN2A SCN8A
6	ion transmembrane transport	GO:0034220	9.76	CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A SCN1A
7	learning	GO:0007612	9.75	CHRNB2 CNTNAP2 GRIN2A
8	sensory perception of pain	GO:0019233	9.72	CHRNA4 CHRNB2 GRIN2A
9	excitatory postsynaptic potential	GO:0060079	9.72	CHRNA2 CHRNA4 CHRNB2 GRIN2A GRIN2B
10	social behavior	GO:0035176	9.71	CHRNB2 CNTNAP2 MTOR
11	nervous system process	GO:0050877	9.71	CHRNA2 CHRNA4 CHRNB2 GABRG2
12	visual learning	GO:0008542	9.7	CHRNB2 GRIN2A MTOR
13	response to nicotine	GO:0035094	9.69	CHRNA2 CHRNA4 CHRNB2
14	neuromuscular synaptic transmission	GO:0007274	9.67	CHRNA2 CHRNA4 CHRNB2
15	membrane depolarization during action potential	GO:0086010	9.65	SCN1A SCN2A SCN8A
16	regulation of postsynaptic membrane potential	GO:0060078	9.65	CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A
17	action potential	GO:0001508	9.63	CHRNA4 CHRNB2
18	neuronal action potential	GO:0019228	9.63	SCN1A SCN2A SCN8A
19	glutamate receptor signaling pathway	GO:0007215	9.62	GRIN2A GRIN2B
20	positive regulation of glial cell proliferation	GO:0060252	9.61	MTOR TSPO
21	synaptic transmission, cholinergic	GO:0007271	9.61	CHRNA2 CHRNA4 CHRNB2
22	behavioral response to nicotine	GO:0035095	9.59	CHRNA4 CHRNB2
23	excitatory chemical synaptic transmission	GO:0098976	9.58	GRIN2A GRIN2B
24	calcium ion transmembrane import into cytosol	GO:0097553	9.57	GRIN2A GRIN2B
25	acetylcholine receptor signaling pathway	GO:0095500	9.56	CHRNA4 CHRNB2
26	regulation of membrane potential	GO:0042391	9.5	CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A KCNT1
27	ion transport	GO:0006811	9.36	CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B

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

(show all 15)

#	Name	GO ID	Score	Top Affiliating Genes
1	Ras guanyl-nucleotide exchange factor activity	GO:0005088	9.72	GRIN2A GRIN2B SPTAN1
2	ligand-gated ion channel activity	GO:0015276	9.63	CHRNA2 CHRNA4 CHRNB2
3	sodium channel activity	GO:0005272	9.61	SCN1A SCN2A SCN8A
4	voltage-gated sodium channel activity	GO:0005248	9.58	SCN1A SCN2A SCN8A
5	ionotropic glutamate receptor activity	GO:0004970	9.54	GRIN2A GRIN2B
6	acetylcholine binding	GO:0042166	9.54	CHRNA2 CHRNA4 CHRNB2
7	extracellularly glutamate-gated ion channel activity	GO:0005234	9.52	GRIN2A GRIN2B
8	benzodiazepine receptor activity	GO:0008503	9.51	GABRG2 TSPO
9	acetylcholine-gated cation-selective channel activity	GO:0022848	9.5	CHRNA2 CHRNA4 CHRNB2
10	NMDA glutamate receptor activity	GO:0004972	9.49	GRIN2A GRIN2B
11	glutamate-gated calcium ion channel activity	GO:0022849	9.48	GRIN2A GRIN2B
12	cation channel activity	GO:0005261	9.46	GRIN2A SCN1A SCN2A SCN8A
13	acetylcholine receptor activity	GO:0015464	9.43	CHRNA2 CHRNA4 CHRNB2
14	ion channel activity	GO:0005216	9.28	CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B
15	extracellular ligand-gated ion channel activity	GO:0005230	9.26	CHRNA2 CHRNA4 CHRNB2 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 ExPASy

¹⁸ FDA Approved Drugs

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 HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ 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 73 / NDF-RT 51 :

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 (2 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 ⁷³ / NDF-RT ⁵¹ :