Aliases & Classifications for Focal Epilepsy

MalaCards integrated aliases for Focal Epilepsy:

Name: Focal Epilepsy 12 28 28 14
Epilepsies, Partial 41 69
Localisation-Related Epilepsy 12
Partial Epilepsy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2234
MeSH 41 D004828
NCIt 46 C122812
UMLS 69 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 epilepsies, partial, is related to epilepsy, familial focal, with variable foci 1 and epilepsy, nocturnal frontal lobe, 3, 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 Circadian entrainment. The drugs Eslicarbazepine acetate and Vigabatrin 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 123)
# Related Disease Score Top Affiliating Genes
1 epilepsy, familial focal, with variable foci 1 33.4 DEPDC5 NPRL2 NPRL3
2 epilepsy, nocturnal frontal lobe, 3 32.2 CHRNA4 CHRNB2
3 epilepsy, nocturnal frontal lobe, 1 31.8 CHRNA2 CHRNA4 CHRNB2 GABRG2 SCN1A
4 epilepsy 30.7 CHRNA2 CHRNA4 CHRNB2 CPA6 DEPDC5 GABRG2
5 status epilepticus 30.4 GRIN2B LGI1 SCN1A
6 febrile seizures 30.3 CHRNA4 CPA6 GABRG2 SCN1A
7 encephalitis 30.1 IL1B LGI1 TSPO
8 attention deficit-hyperactivity disorder 29.9 CHRNA4 CNTNAP2 GRIN2A GRIN2B
9 epilepsy, idiopathic generalized 10 29.7 CHRNA4 CPA6 GABRG2 LGI1 SCN1A TBC1D24
10 west syndrome 29.6 CDKL5 GRIN2B KCNT1 SCN1A TBC1D24
11 epileptic encephalopathy, early infantile, 6 29.4 CDKL5 GABRG2 KCNT1 SCN1A SCN3A TBC1D24
12 autosomal dominant partial epilepsy with auditory features 12.3
13 complex partial epilepsy 12.1
14 benign infantile focal epilepsy with midline spikes and wave during sleep 12.1
15 simple partial epilepsy 12.0
16 epilepsy, partial, with pericentral spikes 12.0
17 focal epilepsy-intellectual disability-cerebro-cerebellar malformation 12.0
18 benign partial epilepsy with secondarily generalized seizures in infancy 11.9
19 benign partial epilepsy of infancy with complex partial seizures 11.9
20 epilepsy, partial, familial 11.9
21 myoclonus epilepsy partial seizure 11.9
22 pitt-hopkins-like syndrome 1 11.9
23 centralopathic epilepsy 11.5
24 epilepsy-aphasia spectrum 11.1
25 epilepsy, nocturnal frontal lobe, 4 11.0
26 epilepsy, nocturnal frontal lobe, 5 11.0
27 epilepsy, focal, with speech disorder and with or without mental retardation 10.8
28 seizures, benign familial infantile, 1 10.8
29 epilepsy, nocturnal frontal lobe, 2 10.8
30 epilepsy, familial focal, with variable foci 2 10.8
31 epilepsy, familial focal, with variable foci 3 10.8
32 febrile infection-related epilepsy syndrome 10.8
33 myoclonic epilepsy of infancy 10.6 GABRG2 SCN1A
34 autosomal dominant nocturnal frontal lobe epilepsy 2 10.6 CHRNA4 CHRNB2
35 febrile seizures, familial, 11 10.6 CPA6 SCN1A
36 myoclonic astatic epilepsy 10.6 GRIN2B SCN1A
37 malignant migrating partial seizures of infancy 10.6 KCNT1 SCN1A TBC1D24
38 landau-kleffner syndrome 10.5 GRIN2A TBC1D24
39 seizures, benign familial infantile, 3 10.5 CHRNA4 GABRG2 SCN1A
40 childhood electroclinical syndrome 10.5 GABRG2 GRIN2A TBC1D24
41 adolescence-adult electroclinical syndrome 10.5 GABRG2 SCN1A TBC1D24
42 tobacco addiction 10.5 CHRNA2 CHRNA4 CHRNB2
43 toxic encephalopathy 10.5 GRIN2A GRIN2B IL1B
44 autosomal dominant epilepsy with auditory features 10.5 DEPDC5 LGI1
45 epilepsy with generalized tonic-clonic seizures 10.5 SCN1A TBC1D24
46 disease of mental health 10.4 CHRNA4 GRIN2A GRIN2B
47 autism spectrum disorder 10.4 CNTNAP2 GRIN2A GRIN2B SCN1A
48 autosomal dominant nocturnal frontal lobe epilepsy 10.4 CHRNA2 CHRNA4 CHRNB2 DEPDC5 KCNT1
49 epileptic encephalopathy, early infantile, 15 10.3 CDKL5 KCNT1 SCN1A
50 generalized epilepsy with febrile seizures plus 10.3 GABRG2 SCN1A SCN3A TBC1D24

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:


seizures

MGI Mouse Phenotypes related to Focal Epilepsy:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 GRIN2A GRIN2B CHRNA4 CHRNB2 KCNT1 CNTNAP2
2 growth/size/body region MP:0005378 10.18 GRIN2B IL1B CHRNB2 CNTNAP2 LGI1 GABRG2
3 homeostasis/metabolism MP:0005376 10.15 CHRNA2 GRIN2B CHRNA4 IL1B CHRNB2 DEPDC5
4 mortality/aging MP:0010768 10.03 GRIN2B CHRNA4 IL1B CHRNB2 DEPDC5 LGI1
5 nervous system MP:0003631 9.97 CHRNA2 GRIN2A GRIN2B CHRNA4 IL1B CHRNB2
6 integument MP:0010771 9.92 GRIN2A CHRNA4 IL1B CHRNB2 KCNT1 CNTNAP2
7 no phenotypic analysis MP:0003012 9.5 CDKL5 GRIN2B CHRNA4 NPRL2 NPRL3 SCN3A
8 normal MP:0002873 9.23 CHRNA2 CHRNB2 KCNT1 GABRG2 MTOR SCN1A

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
1
Eslicarbazepine acetate Approved Phase 4,Phase 3,Phase 2,Phase 1 236395-14-5, 75970-99-9 123618
2
Vigabatrin Approved Phase 4 68506-86-5, 60643-86-9 5665
3
Oxcarbazepine Approved Phase 4,Phase 3,Phase 1 28721-07-5 34312
4
Lacosamide Approved Phase 4,Phase 3,Phase 2 860352-01-8, 175481-36-4 219078
5
Carbamazepine Approved, Investigational Phase 4,Phase 3,Phase 1 298-46-4 2554
6
Lamotrigine Approved, Investigational Phase 4,Phase 3 84057-84-1 3878
7 Piracetam Approved, Investigational Phase 4,Phase 3 7491-74-9
8
Zonisamide Approved, Investigational Phase 4,Phase 3 68291-97-4 5734
9
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
10
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2 148553-50-8 5486971
11
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
12
Topiramate Approved Phase 4,Phase 3,Phase 2 97240-79-4 5284627
13
gamma-Aminobutyric acid Approved, Investigational Phase 4 56-12-2 119
14
Ezogabine Approved, Investigational Phase 4 150812-12-7 121892
15
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
16
Phenobarbital Approved, Investigational Phase 4 50-06-6 4763
17
Valproic Acid Approved, Investigational Phase 4,Phase 3 99-66-1 3121
18 Etiracetam Investigational Phase 4,Phase 3,Phase 2 33996-58-6
19 Anticonvulsants Phase 4,Phase 3,Phase 2,Phase 1
20 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 2,Phase 1
21 Neurotransmitter Agents Phase 4,Phase 3,Phase 2
22 Sodium Channel Blockers Phase 4,Phase 3,Phase 2,Phase 1
23 GABA Agents Phase 4,Phase 3
24 Pharmaceutical Solutions Phase 4,Phase 3
25 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 3,Phase 1
26 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
27 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1
28 Antimanic Agents Phase 4,Phase 3,Phase 1
29 calcium channel blockers Phase 4,Phase 3,Phase 2
30 Calcium, Dietary Phase 4,Phase 3,Phase 2
31 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
32 Excitatory Amino Acid Antagonists Phase 4,Phase 3
33 Excitatory Amino Acids Phase 4,Phase 3
34 Neuroprotective Agents Phase 4,Phase 3,Phase 2
35 Nootropic Agents Phase 4,Phase 3,Phase 2
36 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
37 Protective Agents Phase 4,Phase 3,Phase 2
38 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
39 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1
40 Antioxidants Phase 4,Phase 3
41 Anti-Anxiety Agents Phase 4,Phase 3,Phase 2
42 Anti-Obesity Agents Phase 4,Phase 3,Phase 2
43 Antiparkinson Agents Phase 4
44 GABA Agonists Phase 4
45 Neurotransmitter Uptake Inhibitors Phase 4
46 GABA Modulators Phase 4
47 Hypnotics and Sedatives Phase 4
48
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
49
Naloxone Approved, Vet_approved Phase 3 465-65-6 5284596
50 tannic acid Approved, Nutraceutical Phase 3

Interventional clinical trials:

(show top 50) (show all 163)

# Name Status NCT ID Phase Drugs
1 Randomized Controlled Trial to Assess Effects of Lacosamide on Sleep and Wake in Adults With Focal Epilepsy Completed NCT01190098 Phase 4 Lacosamide;Placebo
2 Study on the Treatment of Elderly Patients With Older and Newer Antiepileptic Drugs Completed NCT00438451 Phase 4 Levetiracetam;Carbamazepine;Lamotrigine
3 Open-label, Multi-center Trial of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy Completed NCT01140867 Phase 4 zonisamide
4 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
5 Cognitive and Behavioral Effects of Lacosamide Completed NCT01175954 Phase 4 Lacosamide;Lacosamide
6 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
7 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)
8 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
9 Trial to Assess Optimized Dosage of Lacosamide as add-on Therapy in Patients With Partial Onset Seizure Completed NCT01235403 Phase 4 Lacosamide
10 Trial to Assess Lacosamide as the First add-on Anti-epileptic Drug Treatment in Patients With Partial-onset Seizures Completed NCT00955357 Phase 4 Lacosamide
11 S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy Completed NCT00630968 Phase 4 Levetiracetam (Keppra)
12 Open Label Safety and Efficacy Study of Levetiracetam in Patients With Epilepsy Completed NCT00160654 Phase 4 Levetiracetam
13 Transcranial Direct Current Stimulation, Treatment of Childhood Drug-Resistant Lennox-Gastaut Syndrome, A Pilot Study Completed NCT02731300 Phase 4
14 Safety and Efficacy of Oxcarbazepine Monotherapy in Adults With Partial Seizures Completed NCT00275925 Phase 4 Oxcarbazepine
15 Lamotrigine Cognitive Function Study in Adult Untreated Epilepsies Completed NCT00896987 Phase 4 lamotrigine (Lamictal);Carbamazepine (Tegretol)
16 Cross Sectional Study to Evaluate the Acceptability of Oral Solution of Levetiracetam Completed NCT00319605 Phase 4 Levetiracetam
17 Comparative Study Of Pregabalin And Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures Completed NCT00537940 Phase 4 Pregabalin;Gabapentin
18 Clobazam Adjunctive Treatment of Adults With Refractory Focal Epilepsy Recruiting NCT02726919 Phase 4 Clobazam
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 Once-A-Day Pregabalin For Partial Seizures Completed NCT01262677 Phase 3 pregabalin;pregabalin;pregabalin;pregabalin;pregabalin;pregabalin;placebo
47 Effect of Brivaracetam (BRV) on Nonpsychotic Behavioral Side Effects in Subjects Treated Previously With Levetiracetam (LEV) Completed NCT01653262 Phase 3 Brivaracetam
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 Deep Brain Stimulation of the Anterior Nucleus of the Thalamus in Epilepsy Recruiting NCT02076698 Phase 3 Usual treatment

Search NIH Clinical Center for Focal Epilepsy

Inferred drug relations via UMLS 69 / NDF-RT 47 :


Cochrane evidence based reviews: epilepsies, partial

Genetic Tests for Focal Epilepsy

Genetic tests related to Focal Epilepsy:

# Genetic test Affiliating Genes
1 Focal Epilepsy 28

Anatomical Context for Focal Epilepsy

MalaCards organs/tissues related to Focal Epilepsy:

38
Brain, Temporal Lobe, Cortex, Testes, Thalamus, Skin, Amygdala

Publications for Focal Epilepsy

Articles related to Focal Epilepsy:

(show top 50) (show all 664)
# Title Authors Year
1
KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. ( 29352316 )
2018
2
Refractory focal epilepsy in a paediatric patient with primary familial brain calcification. ( 29448117 )
2018
3
Evidence on the efficacy of primary radiosurgery or stereotactic radiotherapy for drug-resistant non-neoplastic focal epilepsy in adults: A systematic review. ( 29414140 )
2018
4
Progressive topological disorganization of brain network in focal epilepsy. ( 29344935 )
2018
5
Losigamone add-on therapy for focal epilepsy. ( 29355908 )
2018
6
Indirect comparison of third-generation antiepileptic drugs as adjunctive treatment for uncontrolled focal epilepsy. ( 29197667 )
2018
7
Utility of additional dedicated high-resolution 3T MRI in children with medically refractory focal epilepsy. ( 29398181 )
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 )
2018
9
Stereotyped high-frequency oscillations discriminate seizure onset zones and critical functional cortex in focal epilepsy. ( 29394328 )
2018
10
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 )
2018
11
Focal epilepsy as the revealing symptom of 5,10-methylenetetrahydrofolate reductase deficiency in a young adult. ( 29366491 )
2018
12
Magnetoencephalographic imaging of ictal high-frequency oscillations (80-200A Hz) in pharmacologically resistant focal epilepsy. ( 29111591 )
2018
13
Spike-related haemodynamic responses overlap with high frequency oscillations in patients with focal epilepsy. ( 29360943 )
2018
14
Meta-analyses of newer antiepileptic drugs as adjunct for treatment of focal epilepsy in children. ( 29220742 )
2018
15
The usefulness of stereo-electroencephalography (SEEG) in the surgical management of focal epilepsy associated with "hidden" temporal pole encephalocele: a case report and literature review. ( 29039074 )
2018
16
The preclinical discovery and development of brivaracetam for the treatment of focal epilepsy. ( 28829199 )
2017
17
Focal epilepsy with paroxysmal pain due to somatic injury. ( 28652224 )
2017
18
Asystole in focal epilepsy complicating a traumatic subdural hematoma. ( 28765766 )
2017
19
A 2017 review of pharmacotherapy for treating focal epilepsy: where are we now and how will treatment develop? ( 29140112 )
2017
20
Hierarchical disruption in the Bayesian brain: Focal epilepsy and brain networks. ( 28702345 )
2017
21
Bimodal coupling of ripples and slower oscillations during sleep in patients with focal epilepsy. ( 28948998 )
2017
22
The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures. ( 28620718 )
2017
23
The association of arachnoid cysts and focal epilepsy: Hospital based case control study. ( 28527977 )
2017
24
From Nodes to Networks: Can Virtual Resections Predict Neurosurgical Outcomes in Focal Epilepsy? ( 28859458 )
2017
25
Lacosamide treatment of childhood refractory focal epilepsy: the first reported side effect in paediatric patients. ( 28884208 )
2017
26
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 )
2017
27
Comparison between Scalp EEG and Behind-the-Ear EEG for Development of a Wearable Seizure Detection System for Patients with Focal Epilepsy. ( 29295522 )
2017
28
Can we predict drug response by volumes of the corpus callosum in newly diagnosed focal epilepsy? ( 28828212 )
2017
29
Combined electroencephalography-functional magnetic resonance imaging and electrical source imaging improves localization of pediatric focal epilepsy. ( 28749544 )
2017
30
Seizure activity per se does not induce tissue damage markers in human neocortical focal epilepsy. ( 28749594 )
2017
31
Chronic subthreshold cortical stimulation for adult drug-resistant focal epilepsy: safety, feasibility, and technique. ( 29053073 )
2017
32
Teaching Video Neuro<i>Images</i>: Epilepsia partialis continua in an adolescent with preexisting focal epilepsy. ( 29203537 )
2017
33
"I feel my arm shaking": partial cataplexy mistaken for drug-resistant focal epilepsy. ( 28735908 )
2017
34
Dynamic coupling between fMRI local connectivity and interictal EEG in focal epilepsy: A wavelet analysis approach. ( 28737272 )
2017
35
Teaching Neuro<i>Images</i>: New-onset focal epilepsy: The curious case of the camel and the jawbone. ( 29061684 )
2017
36
Adjunctive lacosamide for focal epilepsy: an open-label trial evaluating the impact of flexible titration and dosing on safety and seizure outcomes. ( 28597842 )
2017
37
Newer antiepileptic drugs compared to levetiracetam as adjunctive treatments for uncontrolled focal epilepsy: An indirect comparison. ( 28854405 )
2017
38
Real life pharmaceutical treatment patterns for adult patients with focal epilepsy in Germany: a longitudinal and cross-sectional analysis of recently approved anti-epileptic drugs. ( 28638313 )
2017
39
Value of Repeat Brain MRI in Children with Focal Epilepsy and Negative Findings on Initial MRI. ( 28670168 )
2017
40
Bursts of seizures in long-term recordings of human focal epilepsy. ( 28084639 )
2017
41
Histological and MRI markers of white matter damage in focal epilepsy. ( 29227798 )
2017
42
Ictal 18F-FDG PET/MRI in a Patient With Cortical Heterotopia and Focal Epilepsy. ( 28806243 )
2017
43
Persistent uncrossed corticospinal connections in patients with intractable focal epilepsy. ( 28830029 )
2017
44
Stereo electroencephalography-guided radiofrequency thermocoagulation (SEEG-guided RF-TC) in drug-resistant focal epilepsy: Results from a 10-year experience. ( 27859033 )
2017
45
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. ( 28182669 )
2017
46
Understanding Lennox-Gastaut syndrome: insights from focal epilepsy patients with Lennox-Gastaut features. ( 28584915 )
2017
47
Effect of low-frequency repetitive transcranial magnetic stimulation on sleep pattern and quality of life in patients with focal epilepsy. ( 27318224 )
2016
48
Intracranial Cortical Calcifications in a Focal Epilepsy Patient with Pseudohypoparathyroidism. ( 27390678 )
2016
49
Adjunctive retigabine in refractory focal epilepsy: Postmarketing experience at four tertiary epilepsy care centers in Germany. ( 26828693 )
2016
50
Successful surgery in lesional epilepsy secondary to posterior quandrant ulegyria coexisting with benign childhood focal epilepsy: A case report. ( 27505132 )
2016

Variations for Focal Epilepsy

ClinVar genetic disease variations for Focal Epilepsy:

6
# 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 SPTAN1 NM_001130438.2(SPTAN1): c.6908_6916delACCAGCTGG (p.Asp2303_Leu2305del) deletion Pathogenic/Likely pathogenic rs796053340 GRCh38 Chromosome 9, 128632272: 128632280
3 CDKL5 NM_003159.2(CDKL5): c.2641C> T (p.Gln881Ter) single nucleotide variant Pathogenic rs1057519541 GRCh37 Chromosome X, 18646635: 18646635

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.49 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B
2
Show member pathways
12.32 CHRNA4 CHRNB2 GRIN2A GRIN2B SCN1A
3
Show member pathways
12.13 DEPDC5 MTOR NPRL2 NPRL3
4
Show member pathways
11.94 GRIN2A GRIN2B KCNT1 SCN1A SCN3A
5
Show member pathways
11.43 CHRNA2 CHRNA4 CHRNB2
6 10.76 GRIN2A GRIN2B
7
Show member pathways
10.66 GABRG2 TSPO
8 10.62 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B

GO Terms for Focal Epilepsy

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

# Name GO ID Score Top Affiliating Genes
1 lysosome GO:0005764 9.77 DEPDC5 IL1B MTOR NPRL2 NPRL3
2 lysosomal membrane GO:0005765 9.76 DEPDC5 MTOR NPRL2 NPRL3
3 postsynaptic membrane GO:0045211 9.73 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 9.5 CHRNA2 CHRNA4 CHRNB2
6 voltage-gated sodium channel complex GO:0001518 9.43 SCN1A SCN3A
7 NMDA selective glutamate receptor complex GO:0017146 9.4 GRIN2A GRIN2B
8 GATOR1 complex GO:1990130 9.33 DEPDC5 NPRL2 NPRL3
9 synapse GO:0045202 9.23 CDKL5 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A
10 membrane GO:0016020 10.35 CHRNA2 CHRNA4 CHRNB2 CNTNAP2 DEPDC5 GABRG2

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.92 CHRNA4 GABRG2 GRIN2A GRIN2B
2 positive regulation of GTPase activity GO:0043547 9.92 CDKL5 DEPDC5 NPRL2 NPRL3 TBC1D24
3 response to ethanol GO:0045471 9.82 CHRNB2 GRIN2A GRIN2B
4 learning GO:0007612 9.78 CHRNB2 CNTNAP2 GRIN2A
5 regulation of ion transmembrane transport GO:0034765 9.77 GRIN2A GRIN2B KCNT1 SCN1A SCN3A
6 sensory perception of pain GO:0019233 9.74 CHRNA4 CHRNB2 GRIN2A
7 regulation of membrane potential GO:0042391 9.73 CHRNA4 CHRNB2 GRIN2A SCN1A
8 social behavior GO:0035176 9.72 CHRNB2 CNTNAP2 MTOR
9 visual learning GO:0008542 9.71 CHRNB2 GRIN2A MTOR
10 ion transmembrane transport GO:0034220 9.7 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A SCN1A
11 response to nicotine GO:0035094 9.69 CHRNA2 CHRNA4 CHRNB2
12 negative regulation of TOR signaling GO:0032007 9.67 DEPDC5 NPRL2 NPRL3
13 synaptic transmission, cholinergic GO:0007271 9.65 CHRNA2 CHRNA4 CHRNB2
14 excitatory postsynaptic potential GO:0060079 9.65 CHRNA2 CHRNA4 CHRNB2 GRIN2A GRIN2B
15 ion transport GO:0006811 9.65 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B
16 action potential GO:0001508 9.64 CHRNA4 CHRNB2
17 regulation of autophagosome assembly GO:2000785 9.63 NPRL2 NPRL3
18 glutamate receptor signaling pathway GO:0007215 9.63 GRIN2A GRIN2B
19 neuromuscular synaptic transmission GO:0007274 9.63 CHRNA2 CHRNA4 CHRNB2
20 positive regulation of glial cell proliferation GO:0060252 9.62 MTOR TSPO
21 cellular response to amino acid starvation GO:0034198 9.62 DEPDC5 MTOR NPRL2 NPRL3
22 nervous system process GO:0050877 9.61 CHRNA4 CHRNB2
23 TORC1 signaling GO:0038202 9.6 MTOR NPRL3
24 calcium ion transmembrane import into cytosol GO:0097553 9.59 GRIN2A GRIN2B
25 acetylcholine receptor signaling pathway GO:0095500 9.58 CHRNA4 CHRNB2
26 behavioral response to nicotine GO:0035095 9.58 CHRNA4 CHRNB2
27 regulation of postsynaptic membrane potential GO:0060078 9.1 CHRNA2 CHRNA4 CHRNB2 GRIN2A SCN1A SCN3A
28 transport GO:0006810 10.1 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B
29 transmembrane transport GO:0055085 10.03 CHRNA2 CHRNA4 CHRNB2 GABRG2 SCN1A SCN3A

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 GTPase activator activity GO:0005096 9.78 DEPDC5 NPRL2 NPRL3 TBC1D24
2 ligand-gated ion channel activity GO:0015276 9.54 CHRNA2 CHRNA4 CHRNB2
3 extracellularly glutamate-gated ion channel activity GO:0005234 9.51 GRIN2A GRIN2B
4 acetylcholine binding GO:0042166 9.5 CHRNA2 CHRNA4 CHRNB2
5 ionotropic glutamate receptor activity GO:0004970 9.49 GRIN2A GRIN2B
6 NMDA glutamate receptor activity GO:0004972 9.46 GRIN2A GRIN2B
7 benzodiazepine receptor activity GO:0008503 9.43 GABRG2 TSPO
8 acetylcholine-gated cation-selective channel activity GO:0022848 9.43 CHRNA2 CHRNA4 CHRNB2
9 glutamate-gated calcium ion channel activity GO:0022849 9.4 GRIN2A GRIN2B
10 acetylcholine receptor activity GO:0015464 9.33 CHRNA2 CHRNA4 CHRNB2
11 extracellular ligand-gated ion channel activity GO:0005230 9.26 CHRNA2 CHRNA4 CHRNB2 GABRG2
12 ion channel activity GO:0005216 9.17 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B SCN1A

Sources for Focal Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....