Aliases & Classifications for Focal Epilepsy

Aliases & Descriptions for Focal Epilepsy:

Name: Focal Epilepsy 12 29 14
Epilepsies, Partial 42 69
Partial Epilepsy 12 14
Localisation-Related 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 autosomal dominant partial epilepsy with auditory features and cortical dysplasia-focal epilepsy syndrome, and has symptoms including seizures and seizures, focal. An important gene associated with Focal Epilepsy is TSPO (Translocator Protein), and among its related pathways/superpathways are mTOR signaling pathway (KEGG) and Apoptosis Pathway. The drugs Lacosamide and Carbamazepine have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and temporal lobe, 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 95)
id Related Disease Score Top Affiliating Genes
1 autosomal dominant partial epilepsy with auditory features 12.2
2 cortical dysplasia-focal epilepsy syndrome 12.2
3 complex partial epilepsy 12.0
4 benign infantile focal epilepsy with midline spikes and wave during sleep 11.9
5 simple partial epilepsy 11.9
6 focal epilepsy-intellectual disability-cerebro-cerebellar malformation 11.9
7 epilepsy, partial, with pericentral spikes 11.8
8 benign partial epilepsy of infancy with complex partial seizures 11.8
9 myoclonus epilepsy partial seizure 11.8
10 epilepsy, partial, familial 11.8
11 benign partial epilepsy with secondarily generalized seizures in infancy 11.8
12 epilepsy, familial focal, with variable foci 11.5
13 epilepsy, focal, with speech disorder and with or without mental retardation 11.5
14 malignant migrating partial seizures of infancy 11.1
15 partial motor epilepsy 11.0
16 epilepsy-aphasia spectrum 11.0
17 epilepsy 10.9
18 epilepsy, nocturnal frontal lobe, type 4 10.9
19 epilepsy, nocturnal frontal lobe, 5 10.9
20 epilepsy, nocturnal frontal lobe, 1 10.9
21 centrotemporal epilepsy 10.8
22 epilepsy, nocturnal frontal lobe, 3 10.8
23 febrile infection-related epilepsy syndrome 10.8
24 familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis 10.2 GABRG2 SCN1A
25 glomerulosclerosis, focal segmental, 4 10.2 DEPDC5 NPRL2 NPRL3
26 wagro syndrome 10.2 GABRG2 GRIN2A TBC1D24
27 early onset absence epilepsy 10.2 GABRG2 SCN1A TBC1D24
28 myopathy mitochondrial cataract 10.2 GRIN2B SCN1A SLC2A1
29 neurogenic thoracic outlet syndrome 10.2 DEPDC5 LGI1
30 ovarian mucinous adenocarcinoma 10.1 GRIN2A GRIN2B IL1B
31 3-methylcrotonyl-coa carboxylase deficiency 10.1 GABRG2 GRIN2A SLC2A1 TBC1D24
32 reflex epilepsy 10.1 GRIN2A TBC1D24
33 autosomal recessive nonsyndromic deafness 10.1 GABRG2 SCN1A SLC2A1 TBC1D24
34 epileptic encephalopathy, early infantile, 11 10.1 CHRNA4 GABRG2 SCN1A
35 aceruloplasminemia 10.1 GABRD GABRG2 SCN1A TBC1D24
36 deafness, autosomal recessive 65 10.1 CHRNA4 GABRG2 SCN1A
37 cerebritis 10.1
38 idiopathic generalized epilepsy 10.0 GRIN2B LGI1 SCN1A
39 angina pectoris 10.0 CNTNAP2 GRIN2A LGI1
40 thalassemia 10.0 CPA6 LGI1 TSPO
41 gamma-amino butyric acid metabolism disorder 10.0 GABRD GABRG2 SCN1A SCN3A TBC1D24
42 brachydactyly, type e 10.0 GABRD GABRG2 SCN1A SCN3A TBC1D24
43 neuronitis 9.9
44 bone cancer 9.9 CHRNA4 GABRD GABRG2 SCN1A
45 ellis-van creveld syndrome 9.9 CHRNA4 CNTNAP2 GRIN2A GRIN2B
46 encephalopathy 9.9
47 status epilepticus 9.9
48 paraphilia disorder 9.9 CNTNAP2 GABRA5 GRIN2A SCN1A TSC2
49 urethral stricture 9.9 CHRNA4 GABRA5 GABRG2 SLC2A1
50 hydromyelia 9.9 CHRNA4 CPA6 GABRD GABRG2 SCN1A

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 CHRNA4 CNTNAP2 GABRA5 GABRD GABRG2 GRIN2A
2 growth/size/body region MP:0005378 10.1 CNTNAP2 GABRG2 GRIN2B LGI1 MTOR NPRL2
3 homeostasis/metabolism MP:0005376 10.03 SLC2A1 TSC2 TSPO CHRNA4 DEPDC5 GABRG2
4 mortality/aging MP:0010768 10 CHRNA4 DEPDC5 GABRD GABRG2 GRIN2B IL1B
5 nervous system MP:0003631 9.77 CHRNA4 CNTNAP2 GABRA5 GABRD GABRG2 GRIN2A
6 no phenotypic analysis MP:0003012 9.23 GABRA5 GRIN2B MTOR NPRL2 NPRL3 SCN3A

Drugs & Therapeutics for Focal Epilepsy

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

(show top 50) (show all 234)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Lacosamide Approved Phase 4,Phase 3,Phase 2 860352-01-8, 175481-36-4 219078
2
Carbamazepine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 298-46-4 2554
3
Lamotrigine Approved, Investigational Phase 4,Phase 3,Phase 2 84057-84-1 3878
4 Piracetam Approved Phase 4,Phase 3,Phase 2,Phase 1 7491-74-9
5
Zonisamide Approved, Investigational Phase 4,Phase 3 68291-97-4 5734
6
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 99-66-1 3121
7
Clobazam Approved, Illicit Phase 4,Phase 3 22316-47-8 2789
8
Oxcarbazepine Approved Phase 4,Phase 3,Phase 2,Phase 1 28721-07-5 34312
9
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Phase 1 148553-50-8 5486971
10
Gabapentin Approved, Investigational Phase 4,Phase 3 60142-96-3 3446
11
Tiagabine Approved Phase 4 115103-54-3 60648
12
Topiramate Approved Phase 4,Phase 3,Phase 2,Phase 1 97240-79-4 5284627
13
Ezogabine Approved Phase 4,Phase 3,Phase 2,Phase 1 150812-12-7 121892
14
Eslicarbazepine acetate Approved Phase 4,Phase 3,Phase 2,Phase 1 75970-99-9, 236395-14-5 123618
15
Citalopram Approved Phase 4 59729-33-8 2771
16
Vigabatrin Approved Phase 4 68506-86-5, 60643-86-9 5665
17
Clevidipine Approved Phase 4 167221-71-8
18
Hydralazine Approved Phase 4 86-54-4 3637
19
Labetalol Approved Phase 4 36894-69-6 3869
20
Sertraline Approved Phase 4 79617-96-2 68617
21
Phenobarbital Approved Phase 4,Phase 3 50-06-6 4763
22
Memantine Approved, Investigational Phase 4 19982-08-2 4054
23
Amitriptyline Approved Phase 4 50-48-6 2160
24
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
25
Donepezil Approved Phase 4 120014-06-4 3152
26
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
27
Pramipexole Approved, Investigational Phase 4 104632-26-0 59868 119570
28
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
29
Propranolol Approved, Investigational Phase 4 525-66-6 4946
30
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
31
Rizatriptan Approved Phase 4 145202-66-0, 144034-80-0 5078
32
Sumatriptan Approved, Investigational Phase 4 103628-46-2 5358
33
Zolmitriptan Approved, Investigational Phase 4 139264-17-8 441240 60857
34
Clopidogrel Approved, Nutraceutical Phase 4 120202-66-6, 113665-84-2 60606
35
Butyric Acid Experimental Phase 4 107-92-6 264
36 Anticonvulsants Phase 4,Phase 3,Phase 2,Phase 1
37 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
38 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 2,Phase 1
39 Antimanic Agents Phase 4,Phase 3,Phase 2,Phase 1
40 calcium channel blockers Phase 4,Phase 3,Phase 2,Phase 1
41 Calcium, Dietary Phase 4,Phase 3,Phase 2,Phase 1
42 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
43 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 3,Phase 2,Phase 1
44 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 2,Phase 1
45 Etiracetam Phase 4,Phase 3,Phase 2,Phase 1
46 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Phase 2
47 Excitatory Amino Acids Phase 4,Phase 3,Phase 2,Phase 1
48 Neuroprotective Agents Phase 4,Phase 3,Phase 2,Phase 1
49 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Phase 1
50 Nootropic Agents Phase 4,Phase 3,Phase 2,Phase 1

Interventional clinical trials:

(show top 50) (show all 507)
id Name Status NCT ID Phase
1 Cognitive and Behavioral Effects of Lacosamide Unknown status NCT01175954 Phase 4
2 Randomized Controlled Trial to Assess Effects of Lacosamide on Sleep and Wake in Adults With Focal Epilepsy Completed NCT01190098 Phase 4
3 Study on the Treatment of Elderly Patients With Older and Newer Antiepileptic Drugs Completed NCT00438451 Phase 4
4 Open Label Safety and Efficacy Study of Levetiracetam in Patients With Epilepsy Completed NCT00160654 Phase 4
5 Open-label, Multi-center Trial of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy Completed NCT01140867 Phase 4
6 Effect on Anxiety in Partial Epilepsy Patients Treated With Pregabalin Completed NCT01128712 Phase 4
7 Levetiracetam Versus Oxcarbazepine as Monotherapy to Evaluate Efficacy and Safety in Subjects With Newly or Recently Diagnosed Partial Epilepsy Completed NCT01498822 Phase 4
8 Safety and Efficacy of Oxcarbazepine Monotherapy in Adults With Partial Seizures Completed NCT00275925 Phase 4
9 Trial to Evaluate the Safety and Efficacy of Keppra After Conversion to Mono-therapy in Subjects With Partial Epilepsy Completed NCT00630357 Phase 4
10 Determine Effects of Adjunctive Levetiracetam on Sleep Architecture in Adults With Partial Onset Epilepsy. Completed NCT00245713 Phase 4
11 Drug Use Investigation Of Gabapentin Completed NCT00567268 Phase 4
12 Pharmacovigilance Study of Keppra. SPAIN - SKATE : Safety of Keppra as Adjunctive Therapy in Epilepsy Completed NCT00643500 Phase 4
13 A Prospective, Observational Study On The Effectiveness Of New Antiepileptic Drugs As First Bitherapy In The Daily Clinical Practice Completed NCT00855738 Phase 4
14 Efficacy, Safety, and Tolerability of Oxcarbazepine Monotherapy in Children With Partial Seizures Completed NCT00275912 Phase 4
15 The Effects on Cognitive Function of Levetiracetam (Keppra®) Compared to Carbamazepine (Tegretol®, Carmazepine®) as Monotherapy for Children With Partial Seizure; A Multicentric Randomized Controlled Study Completed NCT02208492 Phase 4
16 Trial to Assess Optimized Dosage of Lacosamide as add-on Therapy in Patients With Partial Onset Seizure Completed NCT01235403 Phase 4
17 Trial to Assess Lacosamide as the First add-on Anti-epileptic Drug Treatment in Patients With Partial-onset Seizures Completed NCT00955357 Phase 4
18 S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy Completed NCT00630968 Phase 4
19 Comparative Study Of Pregabalin And Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures Completed NCT00537940 Phase 4
20 Lamotrigine Cognitive Function Study in Adult Untreated Epilepsies Completed NCT00896987 Phase 4
21 Cross Sectional Study to Evaluate the Acceptability of Oral Solution of Levetiracetam Completed NCT00319605 Phase 4
22 A Study to Evaluate the Dosing, Effectiveness and Safety of Topiramate for the Treatment of Epilepsy Completed NCT00266604 Phase 4
23 Transcranial Direct Current Stimulation, Treatment of Childhood Drug-Resistant Lennox-Gastaut Syndrome, A Pilot Study Completed NCT02731300 Phase 4
24 Levetiracetam for Benign Rolandic Epilepsy Completed NCT00181116 Phase 4
25 Safety and Efficacy of Topamax Versus Carbamazepine in Benign Rolandic Epilepsy Completed NCT00216567 Phase 4
26 Non-Interventional Study With LYRICA (Pregabalin) In Patients With Epilepsy As Adjunctive Therapy Of Partial Seizures To Reduce Seizure Frequency Completed NCT00684424 Phase 4
27 An Open Label Study to Evaluate the Effects of Ezogabine/Retigabine Added to Existing Anti-epileptic Drug(s) on Urinary Voiding Function in Subjects With Partial Onset Seizures Completed NCT01607346 Phase 4
28 Levetiracetam Versus Topiramate as Adjunctive Therapy to Evaluate Efficacy and Safety in Subjects With Refractory Partial Onset Seizures Completed NCT01229735 Phase 4
29 ZAGAL Study: Evaluating Effectiveness and Tolerability of Zonisamide as Adjunctive Therapy in Patients With Partial Onset Seizures Treated With Two Antiepileptic Drugs Completed NCT00659958 Phase 4
30 Safety and Efficacy of Eslicarbazepine Acetate as Adjunctive Therapy for Partial Seizures in Elderly Patients Completed NCT01422720 Phase 4
31 Lyrica (Pregabalin) Administered as an Add-on Therapy for Partial Seizures (LEADER). Completed NCT00288639 Phase 4
32 Escitalopram Treatment of Major Depression in Patients With Temporal Lobe Epilepsy Completed NCT00595699 Phase 4
33 Open Label, Zonegran (Zonisamide) In Partial Onset Seizures Completed NCT00215592 Phase 4
34 The Safety of Intravenous Lacosamide Completed NCT00832884 Phase 4
35 Study on Safety and Efficacy of Levetiracetam in the Adjunctive Treatment of Female Subjects With C1 Catamenial Epilepsy Completed NCT00630630 Phase 4
36 Levetiracetam: The Anti-Convulsant of Choice for Elderly Patients With Dementia Completed NCT01318408 Phase 4
37 A Study of the Structure and Function of the Retina in Adult Patients With Refractory Complex Partial Seizures Treated With Vigabatrin (Sabril®) Completed NCT01278173 Phase 4
38 Comparing The Effect On Cognition Of Adjunctive Therapy With Zonisamide Versus Sodium Valproate Completed NCT00713622 Phase 4
39 A Study to Assess Tolerability and Efficacy of Topiramate Monotherapy in Recently Diagnosed Patients With Epilepsy Completed NCT01689649 Phase 4
40 A Study to Evaluate the Safety and Efficacy of Zonisamide an Antiepileptic Drug as Monotherapy or Adjunctive Therapy in Treatment of Adult Patients With Partial, Generalized or Combined Seizures. Completed NCT01283256 Phase 4
41 Pregabalin In Partial Seizures: An Open-Label, International, Multicenter Add-On Therapy Trial. Completed NCT00141427 Phase 4
42 Evaluation of the Efficacy and Safety of Adjunctive Zonisamide vs Replacement With Zonisamide of the Last Added Antiepileptic Drug Completed NCT01630057 Phase 4
43 A Pilot Study to Evaluate Efficacy and Safety of Clevidipine in Neurosurgical Patients Completed NCT00952081 Phase 4
44 Effect of Carbamazepine and Oxcarbazepine on Serum Neuron-specific Enolase in Focal Seizures Completed NCT02705768 Phase 4
45 Navigation Repetitive Transcranial Magnetic Stimulation in Stroke Rehabilitation Completed NCT01652677 Phase 4
46 Reversing Corticosteroid Induced Memory Impairment Completed NCT01142310 Phase 4
47 Treatment Trial for Psychogenic Nonepileptic Seizures Completed NCT00835627 Phase 4
48 Clobazam Adjunctive Treatment of Adults With Refractory Focal Epilepsy Recruiting NCT02726919 Phase 4
49 Perampanel for Treatment of Adults With Refractory Focal Epilepsy : a Pilot Study. Recruiting NCT02727101 Phase 4
50 Vision Testing in Patients With Partial Seizures Receiving Either Lyrica or Placebo Recruiting NCT00351611 Phase 4

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, Cortex, Temporal Lobe, Testes, Amygdala, Thalamus, Olfactory Bulb

Publications for Focal Epilepsy

Articles related to Focal Epilepsy:

(show top 50) (show all 619)
id Title Authors Year
1
Stereo electroencephalography-guided radiofrequency thermocoagulation (SEEG-guided RF-TC) in drug-resistant focal epilepsy: Results from a 10-year experience. ( 27859033 )
2017
2
Bursts of seizures in long-term recordings of human focal epilepsy. ( 28084639 )
2017
3
Chronic Subthreshold Cortical Stimulation to Treat Focal Epilepsy. ( 27654625 )
2016
4
Antiepileptic Drugs Under Investigation for Treatment of Focal Epilepsy. ( 27753696 )
2016
5
Risk of seizure relapse after antiepileptic drug withdrawal in adult patients with focal epilepsy. ( 27764734 )
2016
6
Regional and global connectivity disturbances in focal epilepsy, related neurocognitive sequelae, and potential mechanistic underpinnings. ( 27554793 )
2016
7
Two-year real-world experience with perampanel in patients with refractory focal epilepsy: Austrian data. ( 27800020 )
2016
8
Pre-ictal BOLD alterations: Two cases of patients with focal epilepsy. ( 27635629 )
2016
9
Psychiatric manifestations and dysautonomia at the onset of focal epilepsy in adults: Clinical signs indicating autoimmune origin. ( 27311973 )
2016
10
Drug resistant focal epilepsy in a patient with myotonic dystrophy type 2: casual or causal association? ( 27225277 )
2016
11
Tract-specific atrophy in focal epilepsy: disease, genetics or seizures? ( 28009132 )
2016
12
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
13
Seizure clusters in drug-resistant focal epilepsy. ( 27417685 )
2016
14
Brain Network Architecture and Global Intelligence in Children with Focal Epilepsy. ( 27737853 )
2016
15
A targeted resequencing gene panel for focal epilepsy. ( 27029629 )
2016
16
Focal Epilepsy: MR Imaging of Nonhemodynamic Field Effects by Using a Phase-cycled Stimulus-induced Rotary Saturation Approach with Spin-Lock Preparation. ( 26824710 )
2016
17
Determining the relationship between sleep architecture, seizure variables and memory in patients with focal epilepsy. ( 26854742 )
2016
18
Detection and Magnetic Source Imaging of Fast Oscillations (40-160A Hz) Recorded with Magnetoencephalography in Focal Epilepsy Patients. ( 26830767 )
2016
19
Resective focal epilepsy surgery - Has selection of candidates changed? A systematic review. ( 26921855 )
2016
20
24-hour rhythmicity of seizures in refractory focal epilepsy. ( 26773673 )
2016
21
Field testing of ICHD-3 beta criteria of periictal headaches in patients with focal epilepsy - a prospective diary study. ( 27940879 )
2016
22
Successful surgery in lesional epilepsy secondary to posterior quandrant ulegyria coexisting with benign childhood focal epilepsy: A case report. ( 27505132 )
2016
23
Transient and chronic seizure-induced inflammation in human focal epilepsy. ( 27381590 )
2016
24
Efficacy and Tolerability of Antiepileptic Drugs in Patients with Focal Epilepsy: Systematic Review and Network Meta-analyses. ( 27779771 )
2016
25
A common reference-based indirect comparison meta-analysis of eslicarbazepine versus lacosamide as add on treatments for focal epilepsy. ( 27543806 )
2016
26
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. ( 27173016 )
2016
27
Perampanel as add-on treatment in refractory focal epilepsy. The Dianalund experience. ( 26763771 )
2016
28
Correlation of FDG-PET hypometabolism and SEEG epileptogenicity mapping in patients with drug-resistant focal epilepsy. ( 27861778 )
2016
29
Increased subcortical oligodendroglia-like cells in pharmacoresistant focal epilepsy in children correlate with extensive epileptogenic zones. ( 27859041 )
2016
30
The sensitivity and significance of lateralized interictal slow activity on magnetoencephalography in focal epilepsy. ( 26871959 )
2016
31
Interictal activity is an important contributor to abnormal intrinsic network connectivity in paediatric focal epilepsy. ( 27543883 )
2016
32
Effect of low-frequency repetitive transcranial magnetic stimulation on sleep pattern and quality of life in patients with focal epilepsy. ( 27318224 )
2016
33
Brivaracetam add-on for refractory focal epilepsy: A systematic review and meta-analysis. ( 26944275 )
2016
34
Occipito-Frontal Sharp Waves - An Under-Recognized EEG Pattern in Self-limited Idiopathic Childhood Focal Epilepsy. ( 27662337 )
2016
35
Clinical Benefit of 3 Tesla Magnetic Resonance Imaging Rescanning in Patients With Focal Epilepsy and Negative 1.5 Tesla Magnetic Resonance Imaging. ( 27408997 )
2016
36
Guideline conform initial monotherapy increases in patients with focal epilepsy: A population-based study on German health insurance data. ( 27423509 )
2016
37
Hyperventilation in patients with focal epilepsy: electromagnetic tomography, functional connectivity and graph theory. A possible tool in epilepsy diagnosis? ( 27490325 )
2016
38
Marker-based ballistocardiographic artifact correction improves spike identification in EEG-fMRI of focal epilepsy patients. ( 27417056 )
2016
39
Drug-resistant epilepsy after treatment for childhood acute lymphocytic leukaemia: from focal epilepsy to Lennox-Gastaut syndrome. ( 27934621 )
2016
40
Efficacy and tolerability of brivaracetam compared to lacosamide, eslicarbazepine acetate, and perampanel as adjunctive treatments in uncontrolled focal epilepsy: Results of an indirect comparison meta-analysis of RCTs. ( 27710868 )
2016
41
Autoantibodies to neuronal antigens in children with focal epilepsy and no prima facie signs of encephalitis. ( 27056280 )
2016
42
Might the olfactory bulb be an origin of olfactory auras in focal epilepsy? ( 27818364 )
2016
43
Seizure-related modulation of systemic arterial blood pressure in focal epilepsy. ( 27549906 )
2016
44
Focal epilepsy as a long term sequela of Parvovirus B19 encephalitis. ( 27130981 )
2016
45
Cost-Utility of Video-Electroencephalography Monitoring Followed by Surgery in Adults with Drug-Resistant Focal Epilepsy in Thailand. ( 27913266 )
2016
46
7T MRI in focal epilepsy with unrevealing conventional field strength imaging. ( 26778405 )
2016
47
Slow Activity in Focal Epilepsy During Sleep and Wakefulness. ( 27287223 )
2016
48
Seizure Onset Zone Localization from Ictal High-Density EEG in Refractory Focal Epilepsy. ( 27853892 )
2016
49
Accuracy of Conventional Diagnostic Methods for Identifying Structural Changes in Patients with Focal Epilepsy. ( 28077892 )
2016
50
Optimising EEG-fMRI for Localisation of Focal Epilepsy in Children. ( 26872220 )
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 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:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.12 DEPDC5 MTOR NPRL2 NPRL3 TSC2
2
Show member pathways
11.98 GABRA5 GABRD GABRG2 IL1B MTOR
3 11.61 MTOR SLC2A1 TSC2
4 10.7 CHRNA4 GABRA5 GABRD GABRG2 GRIN2A GRIN2B
5
Show member pathways
10.58 GABRG2 TSPO
6 10.36 GABRA5 GABRD GABRG2

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 cell junction GO:0030054 9.86 CHRNA4 GABRA5 GABRD GABRG2 GRIN2A GRIN2B
2 dendrite GO:0030425 9.8 CHRNA4 CNTNAP2 GABRA5 GABRG2 MTOR
3 lysosomal membrane GO:0005765 9.78 DEPDC5 MTOR NPRL2 NPRL3
4 synapse GO:0045202 9.7 CHRNA4 GABRA5 GABRD GABRG2 GRIN2A GRIN2B
5 chloride channel complex GO:0034707 9.54 GABRA5 GABRD GABRG2
6 GABA-A receptor complex GO:1902711 9.5 GABRA5 GABRD GABRG2
7 voltage-gated sodium channel complex GO:0001518 9.46 SCN1A SCN3A
8 NMDA selective glutamate receptor complex GO:0017146 9.43 GRIN2A GRIN2B
9 postsynaptic membrane GO:0045211 9.43 CHRNA4 GABRA5 GABRD GABRG2 GRIN2A GRIN2B
10 Iml1 complex GO:1990130 8.8 DEPDC5 NPRL2 NPRL3

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of GTPase activity GO:0043547 9.95 DEPDC5 GRIN2A GRIN2B NPRL2 NPRL3 TBC1D24
2 regulation of ion transmembrane transport GO:0034765 9.8 GRIN2A GRIN2B SCN1A SCN3A
3 chloride transmembrane transport GO:1902476 9.73 GABRA5 GABRD GABRG2
4 chloride transport GO:0006821 9.73 GABRA5 GABRD GABRG2 TSPO
5 chemical synaptic transmission GO:0007268 9.73 CHRNA4 GABRA5 GABRD GABRG2 GRIN2A GRIN2B
6 regulation of membrane potential GO:0042391 9.72 CHRNA4 GRIN2A SCN1A
7 excitatory postsynaptic potential GO:0060079 9.69 CHRNA4 GRIN2A GRIN2B
8 regulation of postsynaptic membrane potential GO:0060078 9.67 CHRNA4 GRIN2A SCN1A SCN3A
9 cellular response to amino acid starvation GO:0034198 9.62 DEPDC5 MTOR NPRL2 NPRL3
10 ion transport GO:0006811 9.61 CHRNA4 GABRA5 GABRD GABRG2 GRIN2A GRIN2B
11 regulation of autophagosome assembly GO:2000785 9.58 NPRL2 NPRL3
12 glutamate receptor signaling pathway GO:0007215 9.57 GRIN2A GRIN2B
13 anoikis GO:0043276 9.54 MTOR TSC2
14 positive regulation of glial cell proliferation GO:0060252 9.52 MTOR TSPO
15 TORC1 signaling GO:0038202 9.48 MTOR NPRL3
16 negative regulation of TOR signaling GO:0032007 9.46 DEPDC5 NPRL2 NPRL3 TSC2
17 ion transmembrane transport GO:0034220 9.23 CHRNA4 GABRA5 GABRD GABRG2 GRIN2A GRIN2B
18 transport GO:0006810 10.16 CHRNA4 GABRA5 GABRD GABRG2 GRIN2A GRIN2B

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

id Name GO ID Score Top Affiliating Genes
1 GTPase activator activity GO:0005096 9.65 DEPDC5 NPRL2 NPRL3 TBC1D24 TSC2
2 chloride channel activity GO:0005254 9.58 GABRA5 GABRD GABRG2
3 ionotropic glutamate receptor activity GO:0004970 9.46 GRIN2A GRIN2B
4 extracellular-glutamate-gated ion channel activity GO:0005234 9.43 GRIN2A GRIN2B
5 NMDA glutamate receptor activity GO:0004972 9.37 GRIN2A GRIN2B
6 GABA-A receptor activity GO:0004890 9.33 GABRA5 GABRD GABRG2
7 benzodiazepine receptor activity GO:0008503 9.32 GABRG2 TSPO
8 extracellular ligand-gated ion channel activity GO:0005230 9.26 CHRNA4 GABRA5 GABRD GABRG2
9 ion channel activity GO:0005216 9.1 CHRNA4 GABRA5 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
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34 ICD10 via Orphanet
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38 LifeMap
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