Aliases & Classifications for Focal Epilepsy

MalaCards integrated aliases for Focal Epilepsy:

Name: Focal Epilepsy 12 29 14
Epilepsies, Partial 42 69
Localisation-Related Epilepsy 12
Partial Epilepsy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2234
MeSH 42 D004828
NCIt 47 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, nocturnal frontal lobe, 3 and headache, and has symptoms including seizures and seizures, focal. 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 Lamotrigine and Piracetam have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and cortex, and related phenotypes are behavior/neurological and homeostasis/metabolism

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 112)
id Related Disease Score Top Affiliating Genes
1 epilepsy, nocturnal frontal lobe, 3 32.4 CHRNA4 CHRNB2
2 headache 30.4 CHRNA4 CPA6 GABRG2 SCN1A
3 cortical dysplasia-focal epilepsy syndrome 12.2
4 autosomal dominant partial epilepsy with auditory features 12.2
5 complex partial epilepsy 12.0
6 benign infantile focal epilepsy with midline spikes and wave during sleep 11.9
7 simple partial epilepsy 11.9
8 focal epilepsy-intellectual disability-cerebro-cerebellar malformation 11.9
9 epilepsy, partial, with pericentral spikes 11.8
10 scn3a-related focal epilepsy susceptibility 11.8
11 benign partial epilepsy of infancy with complex partial seizures 11.8
12 myoclonus epilepsy partial seizure 11.8
13 epilepsy, partial, familial 11.8
14 benign partial epilepsy with secondarily generalized seizures in infancy 11.8
15 epilepsy, familial focal, with variable foci 1 11.6
16 epilepsy, focal, with speech disorder and with or without mental retardation 11.4
17 malignant migrating partial seizures of infancy 11.1
18 epilepsy-aphasia spectrum 11.0
19 epilepsy 10.9
20 partial motor epilepsy 10.9
21 epilepsy, nocturnal frontal lobe, 5 10.9
22 epilepsy, nocturnal frontal lobe, type 4 10.9
23 sporadic idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation 10.9 GABRG2 SCN1A
24 hyperekplexia 1 10.9 CHRNA4 CHRNB2
25 mesomelia-synostoses syndrome 10.9 CPA6 SCN1A
26 myoglobinuria dominant form 10.8 GRIN2B SCN1A
27 man1b1-cdg 10.8 KCNT1 SCN1A TBC1D24
28 glomerulosclerosis, focal segmental, 4 10.8 DEPDC5 NPRL2 NPRL3
29 childhood electroclinical syndrome 10.8 KCNT1 SCN1A TBC1D24
30 early onset absence epilepsy 10.8 GABRG2 GRIN2A TBC1D24
31 reflex epilepsy 10.8 GRIN2A TBC1D24
32 3-methylcrotonyl-coa carboxylase deficiency 10.7 GABRG2 SCN1A TBC1D24
33 epilepsy, familial focal, with variable foci 3 10.7
34 seizures, benign familial infantile, 1 10.7
35 epilepsy, nocturnal frontal lobe, 1 10.7
36 centrotemporal epilepsy 10.7
37 epilepsy, familial focal, with variable foci 2 10.7
38 febrile infection-related epilepsy syndrome 10.7
39 parkinsonism-dystonia, infantile 10.7 CHRNA2 CHRNA4 CHRNB2
40 ovarian cystadenocarcinoma 10.7 GRIN2A GRIN2B IL1B
41 middle ear neuroendocrine tumor 10.7 DEPDC5 LGI1
42 personality disorder 10.6 CHRNA4 GRIN2A GRIN2B
43 childhood malignant schwannoma 10.6 SCN1A TBC1D24
44 hyperekplexia 10.6 CHRNA2 CHRNA4 CHRNB2 DEPDC5 KCNT1
45 duane retraction syndrome 10.6 SCN1A TSPO
46 gaba aminotransferase deficiency 10.5 GABRG2 SCN1A SCN3A TBC1D24
47 epileptic encephalopathy, early infantile, 15 10.5 CDKL5 KCNT1 SCN1A
48 deafness, autosomal recessive 65 10.5 CHRNA2 CHRNA4 CHRNB2 GABRG2 SCN1A
49 sexual disorder 10.5 CHRNA4 CNTNAP2 GRIN2A GRIN2B SCN1A
50 craniosynostosis, adelaide type 10.5 CHRNA4 CNTNAP2 GRIN2A GRIN2B

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, seizures, focal

MGI Mouse Phenotypes related to Focal Epilepsy:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.21 GRIN2B LGI1 MTOR SCN1A SCN3A TSPO
2 homeostasis/metabolism MP:0005376 10.15 CHRNA2 CHRNA4 CHRNB2 DEPDC5 GABRG2 GRIN2B
3 growth/size/body region MP:0005378 10.14 LGI1 MTOR NPRL2 NPRL3 SCN1A SCN3A
4 mortality/aging MP:0010768 10.03 CHRNA4 CHRNB2 DEPDC5 GABRG2 GRIN2B IL1B
5 nervous system MP:0003631 9.93 CDKL5 CHRNA2 CHRNA4 CHRNB2 CNTNAP2 GABRG2
6 integument MP:0010771 9.87 CHRNA4 CHRNB2 CNTNAP2 GRIN2A IL1B LGI1
7 no phenotypic analysis MP:0003012 9.5 NPRL2 NPRL3 SCN3A CDKL5 CHRNA4 GRIN2B
8 normal MP:0002873 9.23 CHRNA2 CHRNB2 GABRG2 KCNT1 MTOR SCN1A

Drugs & Therapeutics for Focal Epilepsy

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

(show top 50) (show all 149)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lamotrigine Approved, Investigational Phase 4,Phase 3 84057-84-1 3878
2 Piracetam Approved Phase 4,Phase 3 7491-74-9
3
Eslicarbazepine acetate Approved Phase 4,Phase 3,Phase 2,Phase 1 75970-99-9, 236395-14-5 123618
4
Vigabatrin Approved Phase 4 68506-86-5, 60643-86-9 5665
5
Oxcarbazepine Approved Phase 4,Phase 3,Phase 1 28721-07-5 34312
6
Lacosamide Approved Phase 4,Phase 3,Phase 2 860352-01-8, 175481-36-4 219078
7
Carbamazepine Approved, Investigational Phase 4,Phase 3,Phase 1 298-46-4 2554
8
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
9
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2 148553-50-8 5486971
10
Tiagabine Approved Phase 4 115103-54-3 60648
11
Topiramate Approved Phase 4,Phase 3,Phase 2 97240-79-4 5284627
12
Zonisamide Approved, Investigational Phase 4,Phase 3 68291-97-4 5734
13
Clevidipine Approved Phase 4 167221-71-8
14
Hydralazine Approved Phase 4 86-54-4 3637
15
Labetalol Approved Phase 4 36894-69-6 3869
16
Ezogabine Approved Phase 4 150812-12-7 121892
17
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
18
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 99-66-1 3121
19
Phenobarbital Approved Phase 4 50-06-6 4763
20 Etiracetam Investigational Phase 4,Phase 3,Phase 2 33996-58-6
21
gamma-Aminobutyric acid Investigational Phase 4 56-12-2 119
22
Butyric Acid Experimental Phase 4 107-92-6 264
23 Anticonvulsants Phase 4,Phase 3,Phase 2,Phase 1
24 calcium channel blockers Phase 4,Phase 3,Phase 2
25 Calcium, Dietary Phase 4,Phase 3,Phase 2
26 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 2,Phase 1
27 Excitatory Amino Acid Antagonists Phase 4,Phase 3
28 Excitatory Amino Acids Phase 4,Phase 3,Phase 1
29 Neuroprotective Agents Phase 4,Phase 3,Phase 2
30 Neurotransmitter Agents Phase 4,Phase 3,Phase 1,Phase 2
31 Nootropic Agents Phase 4,Phase 3,Phase 2
32 Protective Agents Phase 4,Phase 3,Phase 2
33 Sodium Channel Blockers Phase 4,Phase 3,Phase 2,Phase 1
34 GABA Agents Phase 4,Phase 3,Phase 1,Phase 2
35 Pharmaceutical Solutions Phase 4,Phase 3
36 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 3,Phase 1
37 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
38 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1
39 Antimanic Agents Phase 4,Phase 3,Phase 1,Phase 2
40 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
41 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
42 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1
43 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1
44 Anti-Anxiety Agents Phase 4,Phase 3,Phase 2
45 Anti-Obesity Agents Phase 4,Phase 3,Phase 2
46 Antioxidants Phase 4,Phase 3
47 Antiparkinson Agents Phase 4
48 GABA Agonists Phase 4,Phase 1
49 Neurotransmitter Uptake Inhibitors Phase 4
50 Anesthetics Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 214)

id 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 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 Open-label, Multi-center Trial of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy Completed NCT01140867 Phase 4 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 Safety and Efficacy of Oxcarbazepine Monotherapy in Adults With Partial Seizures Completed NCT00275925 Phase 4 Oxcarbazepine
14 Transcranial Direct Current Stimulation, Treatment of Childhood Drug-Resistant Lennox-Gastaut Syndrome, A Pilot Study Completed NCT02731300 Phase 4
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 A Pilot Study to Evaluate Efficacy and Safety of Clevidipine in Neurosurgical Patients Completed NCT00952081 Phase 4 Clevidipine
19 Determine Effects of Adjunctive Levetiracetam on Sleep Architecture in Adults With Partial Onset Epilepsy. Completed NCT00245713 Phase 4 levetiracetam
20 Effect of Carbamazepine and Oxcarbazepine on Serum Neuron-specific Enolase and S100B in Focal Seizures Completed NCT02705768 Phase 4 Carbamazepine;Oxcarbazepine
21 Clobazam Adjunctive Treatment of Adults With Refractory Focal Epilepsy Recruiting NCT02726919 Phase 4 Clobazam
22 Effects of Perampanel on Cognition and Electroencephalography in Patients With Epilepsy Recruiting NCT02900755 Phase 4 Perampanel
23 Perampanel for Treatment of Adults With Refractory Focal Epilepsy : a Pilot Study. Terminated NCT02727101 Phase 4 perampanel
24 Study Comparing Best Medical Practice With or Without VNS Therapy in Pharmacoresistant Partial Epilepsy Patients Terminated NCT00522418 Phase 4 Best Medical Practive
25 Effect on Anxiety in Partial Epilepsy Patients Treated With Pregabalin Terminated NCT01128712 Phase 4 Pregabalin;Pregabalin
26 Pregabalin In Partial Seizures (PREPS): An Open-Label, Multicenter Add On Therapy Trial Terminated NCT00407797 Phase 4 Pregabalin
27 Sabril for Complex Partial Seizures in Adult Tolerability Study (TS) Patients Terminated NCT01266291 Phase 4 vigabatrin
28 Efficacy and Safety of an add-on Treatment With Zonisamide in Adults With Focal Epileptic Seizures With or Without Secondary Generalization Terminated NCT00165828 Phase 4 Zonegran
29 Safety and Tolerability of OXC XR as Adjunctive Therapy in Subjects With Refractory Partial Epilepsy Completed NCT00908349 Phase 3 Oxcarbazepine XR
30 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)
31 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
32 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
33 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
34 Efficacy and Safety of Levetiracetam in Partial Seizures Control, With or Without Secondary Generalization Completed NCT01392768 Phase 3 Levetiracetam;Placebo
35 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
36 Study Of The Safety And Efficacy Of Lyrica In The Treatment Of Newly Diagnosed Partial Epilepsy Completed NCT00280059 Phase 3 Pregabalin;Lamotrigine
37 An Open Label Study of Levetiracetam Monotherapy in Patients With Newly Diagnosed Focal Epilepsy Completed NCT01506882 Phase 3 Levetiracetam (LEV)
38 Open Label Safety and Efficacy Study of Levetiracetam in Korean Patients With Epilepsy Completed NCT00160628 Phase 3 Levetiracetam
39 Determine Safety and Efficacy of Long-term Oral Lacosamide in Patients With Partial Seizures Completed NCT00522275 Phase 3 lacosamide
40 Efficacy and Safety of Eslicarbazepine Acetate as Adjunctive Therapy for Refractory Partial Seizures Completed NCT00957684 Phase 3 eslicarbazepine acetate;placebo
41 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
42 Topiramate as Adjunctive Therapy in Infants 1-24 Months for the Control of Partial Onset Seizures Completed NCT00113815 Phase 3 topiramate;topiramate;topiramate;placebo
43 Safety of Intravenous Lacosamide Dose Followed by Twice Daily Oral Lacosamide in Subjects With Partial-onset Seizures Completed NCT00655551 Phase 3 lacosamide;lacosamide;lacosamide
44 Study to Assess the Long-term Safety of Oral Lacosamide in Subjects With Partial-onset Seizures Completed NCT00655486 Phase 3 lacosamide
45 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
46 Combined Role of Position Emission Tomography (PET) and Magnetoencephalography (MEG) in Nonlesional Epilepsy Completed NCT00741559 Phase 3
47 Pregabalin Versus Levetiracetam In Partial Seizures Completed NCT00537238 Phase 3 pregabalin;levetiracetam
48 A Study of the Effectiveness and Safety of Topiramate Monotherapy in Patients With Recently Diagnosed Partial-Onset Seizure Completed NCT00230698 Phase 3 topiramate
49 Extension Study Of Long-Term Safety And Efficacy Of Pregabalin As Monotherapy (Lyrica) In Patients With Partial Seizures Completed NCT00596466 Phase 3 pregabalin
50 A Study of the Effectiveness and Safety of Topiramate in the Treatment of Children With Epilepsy Completed NCT00236743 Phase 3 topiramate

Search NIH Clinical Center for Focal Epilepsy

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: epilepsies, partial

Genetic Tests for Focal Epilepsy

Genetic tests related to Focal Epilepsy:

id Genetic test Affiliating Genes
1 Focal Epilepsy 29

Anatomical Context for Focal Epilepsy

MalaCards organs/tissues related to Focal Epilepsy:

39
Brain, Temporal Lobe, Cortex, Testes, Thalamus, Heart, Skin

Publications for Focal Epilepsy

Articles related to Focal Epilepsy:

(show top 50) (show all 643)
id Title Authors Year
1
Lacosamide treatment of childhood refractory focal epilepsy: the first reported side effect in paediatric patients. ( 28884208 )
2017
2
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
3
Asystole in focal epilepsy complicating a traumatic subdural hematoma. ( 28765766 )
2017
4
The preclinical discovery and development of brivaracetam for the treatment of focal epilepsy. ( 28829199 )
2017
5
Bimodal coupling of ripples and slower oscillations during sleep in patients with focal epilepsy. ( 28948998 )
2017
6
Combined electroencephalography-functional magnetic resonance imaging and electrical source imaging improves localization of pediatric focal epilepsy. ( 28749544 )
2017
7
The association of arachnoid cysts and focal epilepsy: Hospital based case control study. ( 28527977 )
2017
8
Dynamic coupling between fMRI local connectivity and interictal EEG in focal epilepsy: A wavelet analysis approach. ( 28737272 )
2017
9
Persistent uncrossed corticospinal connections in patients with intractable focal epilepsy. ( 28830029 )
2017
10
Understanding Lennox-Gastaut syndrome: insights from focal epilepsy patients with Lennox-Gastaut features. ( 28584915 )
2017
11
Focal epilepsy with paroxysmal pain due to somatic injury. ( 28652224 )
2017
12
Adjunctive lacosamide for focal epilepsy: an open-label trial evaluating the impact of flexible titration and dosing on safety and seizure outcomes. ( 28597842 )
2017
13
Stereo electroencephalography-guided radiofrequency thermocoagulation (SEEG-guided RF-TC) in drug-resistant focal epilepsy: Results from a 10-year experience. ( 27859033 )
2017
14
The phenotypic spectrum of ARHGEF9 includes intellectual disability, focal epilepsy and febrile seizures. ( 28620718 )
2017
15
Value of Repeat Brain MRI in Children with Focal Epilepsy and Negative Findings on Initial MRI. ( 28670168 )
2017
16
Seizure activity per se does not induce tissue damage markers in human neocortical focal epilepsy. ( 28749594 )
2017
17
Hierarchical disruption in the Bayesian brain: Focal epilepsy and brain networks. ( 28702345 )
2017
18
Newer antiepileptic drugs compared to levetiracetam as adjunctive treatments for uncontrolled focal epilepsy: An indirect comparison. ( 28854405 )
2017
19
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
20
"I feel my arm shaking": partial cataplexy mistaken for drug-resistant focal epilepsy. ( 28735908 )
2017
21
Ictal 18F-FDG PET/MRI in a Patient With Cortical Heterotopia and Focal Epilepsy. ( 28806243 )
2017
22
From Nodes to Networks: Can Virtual Resections Predict Neurosurgical Outcomes in Focal Epilepsy? ( 28859458 )
2017
23
Can we predict drug response by volumes of the corpus callosum in newly diagnosed focal epilepsy? ( 28828212 )
2017
24
Bursts of seizures in long-term recordings of human focal epilepsy. ( 28084639 )
2017
25
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. ( 28182669 )
2017
26
Cerebral metabolism and perfusion in MR-negative individuals with refractory focal epilepsy assessed by simultaneous acquisition of (18)F-FDG PET and arterial spin labeling. ( 27222796 )
2016
27
Drug resistant focal epilepsy in a patient with myotonic dystrophy type 2: casual or causal association? ( 27225277 )
2016
28
Determining the relationship between sleep architecture, seizure variables and memory in patients with focal epilepsy. ( 26854742 )
2016
29
A targeted resequencing gene panel for focal epilepsy. ( 27029629 )
2016
30
Drug-resistant focal epilepsy in women of childbearing age: Reproduction and the effect of epilepsy surgery. ( 27176879 )
2016
31
Focal epilepsy as a long term sequela of Parvovirus B19 encephalitis. ( 27130981 )
2016
32
Occipito-Frontal Sharp Waves - An Under-Recognized EEG Pattern in Self-limited Idiopathic Childhood Focal Epilepsy. ( 27662337 )
2016
33
Brivaracetam add-on for refractory focal epilepsy: A systematic review and meta-analysis. ( 26944275 )
2016
34
Drug-resistant epilepsy after treatment for childhood acute lymphocytic leukaemia: from focal epilepsy to Lennox-Gastaut syndrome. ( 27934621 )
2016
35
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. ( 27173016 )
2016
36
Pre-ictal BOLD alterations: Two cases of patients with focal epilepsy. ( 27635629 )
2016
37
Two-year real-world experience with perampanel in patients with refractory focal epilepsy: Austrian data. ( 27800020 )
2016
38
Perampanel as add-on treatment in refractory focal epilepsy. The Dianalund experience. ( 26763771 )
2016
39
Slow Activity in Focal Epilepsy During Sleep and Wakefulness. ( 27287223 )
2016
40
Marker-based ballistocardiographic artifact correction improves spike identification in EEG-fMRI of focal epilepsy patients. ( 27417056 )
2016
41
Seizure clusters in drug-resistant focal epilepsy. ( 27417685 )
2016
42
Field testing of ICHD-3 beta criteria of periictal headaches in patients with focal epilepsy - a prospective diary study. ( 27940879 )
2016
43
Hyperventilation in patients with focal epilepsy: electromagnetic tomography, functional connectivity and graph theory. A possible tool in epilepsy diagnosis? ( 27490325 )
2016
44
Correlation of FDG-PET hypometabolism and SEEG epileptogenicity mapping in patients with drug-resistant focal epilepsy. ( 27861778 )
2016
45
Antiepileptic Drugs Under Investigation for Treatment of Focal Epilepsy. ( 27753696 )
2016
46
Successful surgery in lesional epilepsy secondary to posterior quandrant ulegyria coexisting with benign childhood focal epilepsy: A case report. ( 27505132 )
2016
47
Guideline conform initial monotherapy increases in patients with focal epilepsy: A population-based study on German health insurance data. ( 27423509 )
2016
48
Effect of low-frequency repetitive transcranial magnetic stimulation on sleep pattern and quality of life in patients with focal epilepsy. ( 27318224 )
2016
49
Seizure Onset Zone Localization from Ictal High-Density EEG in Refractory Focal Epilepsy. ( 27853892 )
2016
50
Autoantibodies to neuronal antigens in children with focal epilepsy and no prima facie signs of encephalitis. ( 27056280 )
2016

Variations for Focal Epilepsy

ClinVar genetic disease variations for Focal Epilepsy:

6
id 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

GO Terms for Focal Epilepsy

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

id Name GO ID Score Top Affiliating Genes
1 lysosomal membrane GO:0005765 9.76 DEPDC5 MTOR NPRL2 NPRL3
2 postsynaptic membrane GO:0045211 9.73 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B
3 cell junction GO:0030054 9.56 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B
4 lysosome GO:0005764 9.54 DEPDC5 IL1B MTOR
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 Iml1 complex GO:1990130 9.33 DEPDC5 NPRL2 NPRL3
9 synapse GO:0045202 9.23 CDKL5 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A

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

(show all 27)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.91 CDKL5 DEPDC5 GRIN2A GRIN2B NPRL2 NPRL3
2 chemical synaptic transmission GO:0007268 9.9 CHRNA4 GABRG2 GRIN2A GRIN2B
3 regulation of ion transmembrane transport GO:0034765 9.85 GRIN2A GRIN2B SCN1A SCN3A
4 ion transport GO:0006811 9.85 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B
5 response to ethanol GO:0045471 9.81 CHRNB2 GRIN2A GRIN2B
6 learning GO:0007612 9.76 CHRNB2 CNTNAP2 GRIN2A
7 sensory perception of pain GO:0019233 9.74 CHRNA4 CHRNB2 GRIN2A
8 social behavior GO:0035176 9.71 CHRNB2 CNTNAP2 MTOR
9 regulation of membrane potential GO:0042391 9.71 CHRNA4 CHRNB2 GRIN2A SCN1A
10 visual learning GO:0008542 9.7 CHRNB2 GRIN2A MTOR
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 action potential GO:0001508 9.63 CHRNA4 CHRNB2
16 neuromuscular synaptic transmission GO:0007274 9.63 CHRNA2 CHRNA4 CHRNB2
17 glutamate receptor signaling pathway GO:0007215 9.62 GRIN2A GRIN2B
18 regulation of autophagosome assembly GO:2000785 9.62 NPRL2 NPRL3
19 cellular response to amino acid starvation GO:0034198 9.62 DEPDC5 MTOR NPRL2 NPRL3
20 positive regulation of glial cell proliferation GO:0060252 9.61 MTOR TSPO
21 neurological system process GO:0050877 9.61 CHRNA4 CHRNB2
22 behavioral response to nicotine GO:0035095 9.59 CHRNA4 CHRNB2
23 acetylcholine receptor signaling pathway GO:0095500 9.58 CHRNA4 CHRNB2
24 TORC1 signaling GO:0038202 9.56 MTOR NPRL3
25 ion transmembrane transport GO:0034220 9.56 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B
26 regulation of postsynaptic membrane potential GO:0060078 9.1 CHRNA2 CHRNA4 CHRNB2 GRIN2A SCN1A SCN3A
27 transport GO:0006810 10.13 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 GTPase activator activity GO:0005096 9.76 DEPDC5 NPRL2 NPRL3 TBC1D24
2 ligand-gated ion channel activity GO:0015276 9.54 CHRNA2 CHRNA4 CHRNB2
3 acetylcholine binding GO:0042166 9.5 CHRNA2 CHRNA4 CHRNB2
4 extracellular-glutamate-gated ion channel activity GO:0005234 9.49 GRIN2A GRIN2B
5 ionotropic glutamate receptor activity GO:0004970 9.48 GRIN2A GRIN2B
6 NMDA glutamate receptor activity GO:0004972 9.43 GRIN2A GRIN2B
7 acetylcholine-gated cation-selective channel activity GO:0022848 9.43 CHRNA2 CHRNA4 CHRNB2
8 benzodiazepine receptor activity GO:0008503 9.4 GABRG2 TSPO
9 acetylcholine receptor activity GO:0015464 9.33 CHRNA2 CHRNA4 CHRNB2
10 extracellular ligand-gated ion channel activity GO:0005230 9.26 CHRNA2 CHRNA4 CHRNB2 GABRG2
11 ion channel activity GO:0005216 9.1 CHRNA4 CHRNB2 GRIN2A GRIN2B SCN1A SCN3A

Sources for Focal Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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