Aliases & Classifications for Focal Epilepsy

MalaCards integrated aliases for Focal Epilepsy:

Name: Focal Epilepsy 12 29 6 15
Epilepsies, Partial 44 73
Partial Epilepsy 12 15
Localisation-Related Epilepsy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2234
MeSH 44 D004828
NCIt 50 C122812
SNOMED-CT 68 29753000 67139004
UMLS 73 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 malignant migrating partial seizures of infancy and autosomal dominant epilepsy with auditory features, 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, 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 156)
# Related Disease Score Top Affiliating Genes
1 malignant migrating partial seizures of infancy 32.5 KCNT1 SCN1A SCN2A TBC1D24
2 autosomal dominant epilepsy with auditory features 32.1 DEPDC5 LGI1
3 epilepsy, nocturnal frontal lobe, 3 32.0 CHRNA4 CHRNB2
4 epilepsy, focal, with speech disorder and with or without mental retardation 31.9 GRIN2A GRIN2B
5 epilepsy, nocturnal frontal lobe, 1 31.8 CHRNA2 CHRNA4 CHRNB2 GABRG2 SCN1A
6 epilepsy 31.0 TBC1D24 SCN8A SCN2A SCN1A LGI1 KCNT1
7 encephalopathy 30.6 CDKL5 SCN1A SPTAN1
8 status epilepticus 30.4 GRIN2B LGI1 SCN1A
9 encephalitis 30.3 IL1B LGI1 TSPO
10 lennox-gastaut syndrome 30.2 GABRG2 SCN1A TBC1D24
11 febrile seizures 30.2 CHRNA4 CHRNB2 CPA6 GABRG2 SCN1A
12 landau-kleffner syndrome 29.9 GRIN2A TBC1D24
13 seizure disorder 29.9 CDKL5 SCN1A SCN2A TBC1D24
14 epilepsy, idiopathic generalized 10 29.8 CHRNA4 CPA6 GABRG2 LGI1 SCN1A SCN2A
15 attention deficit-hyperactivity disorder 29.8 CHRNA4 CNTNAP2 GRIN2A GRIN2B
16 early myoclonic encephalopathy 29.8 CDKL5 GABRG2 SCN1A TBC1D24
17 epileptic encephalopathy, early infantile, 6 29.7 TBC1D24 SCN8A SCN2A SCN1A KCNT1 GABRG2
18 benign epilepsy with centrotemporal spikes 29.7 TBC1D24 SPTAN1 SCN2A KCNT1 GRIN2A GABRG2
19 autism 29.6 CDKL5 CNTNAP2 GRIN2A GRIN2B MTOR SCN1A
20 west syndrome 29.6 TBC1D24 SPTAN1 SCN8A SCN2A SCN1A KCNT1
21 epilepsy, idiopathic generalized 29.3 TSPO TBC1D24 SCN2A SCN1A LGI1 GABRG2
22 autosomal dominant partial epilepsy with auditory features 12.5
23 complex partial epilepsy 12.3
24 benign infantile focal epilepsy with midline spikes and waves during sleep 12.2
25 simple partial epilepsy 12.2
26 epilepsy, partial, with pericentral spikes 12.1
27 epilepsy, familial focal, with variable foci 1 12.1
28 focal epilepsy-intellectual disability-cerebro-cerebellar malformation 12.1
29 benign partial epilepsy with secondarily generalized seizures in infancy 12.1
30 benign partial epilepsy of infancy with complex partial seizures 12.1
31 epilepsy, partial, familial 12.1
32 myoclonus epilepsy partial seizure 12.1
33 pitt-hopkins-like syndrome 1 12.0
34 centralopathic epilepsy 11.6
35 epilepsy, familial temporal lobe, 1 11.5
36 partial motor epilepsy 11.3
37 epilepsy-aphasia spectrum 11.2
38 epilepsy, nocturnal frontal lobe, 4 11.1
39 epilepsy, nocturnal frontal lobe, 5 11.1
40 partial sensory epilepsy 11.0
41 seizures, benign familial infantile, 1 11.0
42 epilepsy, nocturnal frontal lobe, 2 11.0
43 epilepsy, familial focal, with variable foci 2 11.0
44 epilepsy, familial focal, with variable foci 3 11.0
45 deep brain stimulation for movement disorders 11.0
46 autosomal dominant nocturnal frontal lobe epilepsy 2 10.3 CHRNA4 CHRNB2
47 bile acid synthesis defect, congenital, 1 10.3 GRIN2A GRIN2B
48 epilepsy with generalized tonic-clonic seizures 10.3 SCN1A SCN2A TBC1D24
49 speech disorder 10.3 CNTNAP2 GRIN2A GRIN2B
50 myoclonic epilepsy of infancy 10.3 GABRG2 SCN1A SCN8A

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.2 CDKL5 CHRNA4 CHRNB2 CNTNAP2 DEPDC5 GABRG2
2 growth/size/body region MP:0005378 10.07 CHRNB2 CNTNAP2 DEPDC5 GABRG2 GRIN2B IL1B
3 mortality/aging MP:0010768 9.97 CHRNA4 CHRNB2 DEPDC5 GABRG2 GRIN2B IL1B
4 nervous system MP:0003631 9.89 CDKL5 CHRNA2 CHRNA4 CHRNB2 CNTNAP2 DEPDC5
5 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 120)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clobazam Approved, Illicit Phase 4,Not Applicable 22316-47-8 2789
2
Eslicarbazepine acetate Approved Phase 4,Phase 3,Phase 2,Phase 1 75970-99-9, 236395-14-5 123618
3
Oxcarbazepine Approved Phase 4,Phase 3,Phase 1 28721-07-5 34312
4
Lacosamide Approved Phase 4,Phase 3,Phase 2,Not Applicable 175481-36-4, 860352-01-8 219078
5
Carbamazepine Approved, Investigational Phase 4,Phase 3,Phase 1,Not Applicable 298-46-4 2554
6 Piracetam Approved, Investigational Phase 4,Phase 3,Phase 2 7491-74-9
7
Lamotrigine Approved, Investigational Phase 4,Phase 3,Not Applicable 84057-84-1 3878
8
Zonisamide Approved, Investigational Phase 4,Phase 3,Not Applicable 68291-97-4 5734
9
Gabapentin Approved, Investigational Phase 4,Not Applicable 60142-96-3 3446
10
Tiagabine Approved, Investigational Phase 4 115103-54-3 60648
11
Topiramate Approved Phase 4,Phase 3,Phase 2,Not Applicable 97240-79-4 5284627
12
Pregabalin Approved, Illicit, Investigational Phase 4,Phase 3,Phase 2,Not Applicable 148553-50-8 5486971
13
gamma-Aminobutyric acid Approved, Investigational Phase 4 56-12-2 119
14
Ezogabine Approved, Investigational Phase 4 150812-12-7 121892
15
Vigabatrin Approved Phase 4,Not Applicable 60643-86-9, 68506-86-5 5665
16
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4,Not Applicable 439-14-5 3016
17
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
18
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
19
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
20
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
21
Valproic Acid Approved, Investigational Phase 4,Phase 3,Not Applicable 99-66-1 3121
22
Phenobarbital Approved, Investigational Phase 4,Not Applicable 50-06-6 4763
23 Etiracetam Investigational Phase 4,Phase 3,Phase 2,Not Applicable 33996-58-6
24
Prednisolone hemisuccinate Experimental Phase 4 2920-86-7
25 Anticonvulsants Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
26 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 2,Phase 1
27 Sodium Channel Blockers Phase 4,Phase 3,Phase 2,Phase 1
28 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
29 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 3,Phase 1
30 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1
31 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Not Applicable
32 Nootropic Agents Phase 4,Phase 3,Phase 2
33 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
34 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
35 Protective Agents Phase 4,Phase 3,Phase 2
36 Calcium, Dietary Phase 4,Phase 3,Phase 2
37 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
38 Neuroprotective Agents Phase 4,Phase 3,Phase 2
39 calcium channel blockers Phase 4,Phase 3,Phase 2
40 Antimanic Agents Phase 4,Phase 3,Phase 1
41 Excitatory Amino Acids Phase 4,Phase 3,Not Applicable
42 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
43 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1
44 Antioxidants Phase 4,Phase 3
45 GABA Agents Phase 4,Phase 3,Not Applicable
46 GABA Agonists Phase 4
47 Antiparkinson Agents Phase 4,Not Applicable
48 Anti-Anxiety Agents Phase 4,Phase 3,Phase 2
49 Neurotransmitter Uptake Inhibitors Phase 4,Not Applicable
50 Anti-Obesity Agents Phase 4,Phase 3,Phase 2

Interventional clinical trials:

(show top 50) (show all 182)
# 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 Pharmacokinetics of Two Formulation of Pregabalin Active, not recruiting NCT03712475 Phase 4 Pregabalin
19 Efficacy and Safety of Rapid Titration Protocols of Lacosamide Not yet recruiting NCT03607851 Phase 4 Lacosamide - conventional titration;Lacosamide - rapid titration 1;Lacosamide - rapid titration 2
20 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
21 Perampanel for Treatment of Adults With Refractory Focal Epilepsy : a Pilot Study. Terminated NCT02727101 Phase 4 perampanel
22 Study Comparing Best Medical Practice With or Without VNS Therapy in Pharmacoresistant Partial Epilepsy Patients Terminated NCT00522418 Phase 4 Best Medical Practive
23 Effect on Anxiety in Partial Epilepsy Patients Treated With Pregabalin Terminated NCT01128712 Phase 4 Pregabalin;Pregabalin
24 Pregabalin In Partial Seizures (PREPS): An Open-Label, Multicenter Add On Therapy Trial Terminated NCT00407797 Phase 4 Pregabalin
25 Sabril for Complex Partial Seizures in Adult Tolerability Study (TS) Patients Terminated NCT01266291 Phase 4 vigabatrin
26 Efficacy of Naloxone in Reducing Postictal Central Respiratory Dysfunction in Patients With Epilepsy Unknown status NCT02332447 Phase 3 naloxone;Placebo
27 Safety and Tolerability of OXC XR as Adjunctive Therapy in Subjects With Refractory Partial Epilepsy Completed NCT00908349 Phase 3 Oxcarbazepine XR
28 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)
29 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
30 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
31 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
32 Efficacy and Safety of Levetiracetam in Partial Seizures Control, With or Without Secondary Generalization Completed NCT01392768 Phase 3 Levetiracetam;Placebo
33 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
34 Study Of The Safety And Efficacy Of Lyrica In The Treatment Of Newly Diagnosed Partial Epilepsy Completed NCT00280059 Phase 3 Pregabalin;Lamotrigine
35 An Open Label Study of Levetiracetam Monotherapy in Patients With Newly Diagnosed Focal Epilepsy Completed NCT01506882 Phase 3 Levetiracetam (LEV)
36 Open Label Safety and Efficacy Study of Levetiracetam in Korean Patients With Epilepsy Completed NCT00160628 Phase 3 Levetiracetam
37 Determine Safety and Efficacy of Long-term Oral Lacosamide in Patients With Partial Seizures Completed NCT00522275 Phase 3 lacosamide
38 Efficacy and Safety of Eslicarbazepine Acetate as Adjunctive Therapy for Refractory Partial Seizures Completed NCT00957684 Phase 3 eslicarbazepine acetate;placebo
39 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
40 Eslicarbazepine Acetate (BIA 2 093) as Therapy for Refractory Partial Seizures in Children Completed NCT00988156 Phase 3 Eslicarbazepine acetate (BIA 2-093);Eslicarbazepine acetate
41 Topiramate as Adjunctive Therapy in Infants 1-24 Months for the Control of Partial Onset Seizures Completed NCT00113815 Phase 3 topiramate;topiramate;topiramate;placebo
42 Safety of Intravenous Lacosamide Dose Followed by Twice Daily Oral Lacosamide in Subjects With Partial-onset Seizures Completed NCT00655551 Phase 3 lacosamide;lacosamide;lacosamide
43 Study to Assess the Long-term Safety of Oral Lacosamide in Subjects With Partial-onset Seizures Completed NCT00655486 Phase 3 lacosamide
44 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
45 Combined Role of Position Emission Tomography (PET) and Magnetoencephalography (MEG) in Nonlesional Epilepsy Completed NCT00741559 Phase 3
46 Pregabalin Versus Levetiracetam In Partial Seizures Completed NCT00537238 Phase 3 pregabalin;levetiracetam
47 A Study of the Effectiveness and Safety of Topiramate Monotherapy in Patients With Recently Diagnosed Partial-Onset Seizure Completed NCT00230698 Phase 3 topiramate
48 Extension Study Of Long-Term Safety And Efficacy Of Pregabalin As Monotherapy (Lyrica) In Patients With Partial Seizures Completed NCT00596466 Phase 3 pregabalin
49 A Study of the Effectiveness and Safety of Topiramate in the Treatment of Children With Epilepsy Completed NCT00236743 Phase 3 topiramate
50 Effect of Brivaracetam (BRV) on Nonpsychotic Behavioral Side Effects in Subjects Treated Previously With Levetiracetam (LEV) Completed NCT01653262 Phase 3 Brivaracetam

Search NIH Clinical Center for Focal Epilepsy

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:

# Genetic test Affiliating Genes
1 Focal Epilepsy 29

Anatomical Context for Focal Epilepsy

MalaCards organs/tissues related to Focal Epilepsy:

41
Brain, Cortex, Temporal Lobe, Testes, Bone, Ovary, Bone Marrow

Publications for Focal Epilepsy

Articles related to Focal Epilepsy:

(show top 50) (show all 801)
# Title Authors Year
1
Antiepileptic monotherapy in newly diagnosed focal epilepsy. A network meta-analysis. ( 30194755 )
2019
2
Re: Field testing of ICHD-3 beta criteria of periictal headache in patients with focal epilepsy - a prospective diary study. ( 29754499 )
2018
3
Focal Epilepsy in a Teenager With Facial Atrophy and Hair Loss. ( 29961525 )
2018
4
Losigamone add-on therapy for focal epilepsy. ( 29355908 )
2018
5
Progressive topological disorganization of brain network in focal epilepsy. ( 29344935 )
2018
6
Magnetoencephalographic imaging of ictal high-frequency oscillations (80-200A Hz) in pharmacologically resistant focal epilepsy. ( 29111591 )
2018
7
Spike-related haemodynamic responses overlap with high frequency oscillations in patients with focal epilepsy. ( 29360943 )
2018
8
Effect of modified Atkins diet in adults with drug-resistant focal epilepsy: A randomized clinical trial. ( 29901816 )
2018
9
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
10
Indirect comparison of third-generation antiepileptic drugs as adjunctive treatment for uncontrolled focal epilepsy. ( 29197667 )
2018
11
Meta-analyses of newer antiepileptic drugs as adjunct for treatment of focal epilepsy in children. ( 29220742 )
2018
12
Significance of FDG-PET Hypermetabolism in Children with Intractable Focal Epilepsy. ( 29672310 )
2018
13
Focal Epilepsy: When the Brakes on the Network Go Kaput. ( 29671841 )
2018
14
Electroencephalographic and Electrocardiographic Effect of Intravenous Lacosamide in Refractory Focal Epilepsy. ( 29851686 )
2018
15
The link between structural connectivity and neurocognition illustrated by focal epilepsy. ( 29620009 )
2018
16
Integrating artificial intelligence with real-time intracranial EEG monitoring to automate interictal identification of seizure onset zones in focal epilepsy. ( 29855436 )
2018
17
Lacosamide may improve cognition in patients with focal epilepsy: EpiTrack to compare cognitive side effects of lacosamide and carbamazepine. ( 29977793 )
2018
18
Comparative efficacy of unique antiepileptic drug regimens in focal epilepsy: An exploratory study. ( 29571152 )
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 )
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 )
2018
21
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
22
Refractory focal epilepsy in a paediatric patient with primary familial brain calcification. ( 29448117 )
2018
23
Comparison of lamotrigine and oxcarbazepine monotherapy for pediatric focal epilepsy: An observational study. ( 29957441 )
2018
24
Computer-assisted planning for the insertion of stereoelectroencephalography electrodes for the investigation of drug-resistant focal epilepsy: an external validation study. ( 29652234 )
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 )
2018
26
KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood. ( 29352316 )
2018
27
DEPDC5 takes a second hit in familial focal epilepsy. ( 29708509 )
2018
28
Pearls & Oy-sters: Alternating hemiplegia of childhood mimics focal epilepsy and paroxysmal dyskinesia in infancy. ( 29967203 )
2018
29
Utility of additional dedicated high-resolution 3T MRI in children with medically refractory focal epilepsy. ( 29398181 )
2018
30
Focal epilepsy as the revealing symptom of 5,10-methylenetetrahydrofolate reductase deficiency in a young adult. ( 29366491 )
2018
31
Seizure freedom following surgery for multi-focal epilepsy due to cerebral malaria. ( 29692971 )
2018
32
Stereotyped high-frequency oscillations discriminate seizure onset zones and critical functional cortex in focal epilepsy. ( 29394328 )
2018
33
Focal epilepsy as a late complication of congenital dacryocystocele. ( 30005300 )
2018
34
Resting-state functional brain networks in adults with a new diagnosis of focal epilepsy. ( 30488645 )
2018
35
Substitution has better efficacy than add-on therapy for patients with focal epilepsy after their first antiepileptic drug treatments fail. ( 30529755 )
2018
36
Gap Activity TOward Rags 1 variants in Chinese people with sporadic drug-resistant focal epilepsy. ( 30427063 )
2018
37
Interictal psychiatric comorbidities of drug-resistant focal epilepsy: Prevalence and influence of the localization of the epilepsy. ( 30429057 )
2018
38
Gabapentin add-on treatment for drug-resistant focal epilepsy. ( 30357813 )
2018
39
Memory in children with epilepsy: Utility of the WRAML-2 in generalized and focal epilepsy syndromes. ( 30384096 )
2018
40
Postmarketing experience with brivaracetam in the treatment of focal epilepsy in children and adolescents. ( 30390435 )
2018
41
Zonisamide add-on therapy for focal epilepsy. ( 30335200 )
2018
42
Systematic Assessment of Multispectral Voxel-Based Morphometry in Previously MRI-Negative Focal Epilepsy. ( 30337431 )
2018
43
Stereo-electroencephalography-guided radiofrequency thermocoagulation in patients with focal epilepsy: A systematic review and meta-analysis. ( 30345535 )
2018
44
Responsive neurostimulation: Review of clinical trials and insights into focal epilepsy. ( 30243756 )
2018
45
Physiological and pathological high frequency oscillations in focal epilepsy. ( 30250863 )
2018
46
Emerging drugs for focal epilepsy. ( 30251907 )
2018
47
Neuroradiological findings in patients with "non-lesional" focal epilepsy revealed by research protocol. ( 30274684 )
2018
48
The Comorbidity of Focal Epilepsy and Narcolepsy Type 1 - Two Case Reports. ( 30183203 )
2018
49
Focal Epilepsy and the Clock Gene. ( 30210228 )
2018
50
Using network analysis to localize the epileptogenic zone from invasive EEG recordings in intractable focal epilepsy. ( 30215034 )
2018

Variations for Focal Epilepsy

ClinVar genetic disease variations for Focal Epilepsy:

6 (show all 24)
# Gene Variation Type Significance SNP ID Assembly Location
1 SCN1A NM_006920.4(SCN1A): c.4595T> C (p.Phe1532Ser) single nucleotide variant Uncertain significance rs121917992 GRCh37 Chromosome 2, 166850880: 166850880
2 SCN1A NM_006920.4(SCN1A): c.4595T> C (p.Phe1532Ser) single nucleotide variant Uncertain significance rs121917992 GRCh38 Chromosome 2, 165994370: 165994370
3 SCN1A NM_006920.4(SCN1A): c.4753C> T (p.Arg1585Cys) single nucleotide variant Pathogenic rs121917993 GRCh37 Chromosome 2, 166850722: 166850722
4 SCN1A NM_006920.4(SCN1A): c.4753C> T (p.Arg1585Cys) single nucleotide variant Pathogenic rs121917993 GRCh38 Chromosome 2, 165994212: 165994212
5 SCN1A NM_006920.4(SCN1A): c.4937G> A (p.Arg1646His) single nucleotide variant not provided rs121917994 GRCh37 Chromosome 2, 166848815: 166848815
6 SCN1A NM_006920.4(SCN1A): c.4937G> A (p.Arg1646His) single nucleotide variant not provided rs121917994 GRCh38 Chromosome 2, 165992305: 165992305
7 KCNT1 NM_020822.2(KCNT1): c.2882G> A (p.Arg961His) single nucleotide variant Conflicting interpretations of pathogenicity rs200694691 GRCh37 Chromosome 9, 138675910: 138675910
8 KCNT1 NM_020822.2(KCNT1): c.2882G> A (p.Arg961His) single nucleotide variant Conflicting interpretations of pathogenicity rs200694691 GRCh38 Chromosome 9, 135784064: 135784064
9 SCN8A NM_014191.3(SCN8A): c.5630A> G (p.Asn1877Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587780455 GRCh37 Chromosome 12, 52200900: 52200900
10 SCN8A NM_014191.3(SCN8A): c.5630A> G (p.Asn1877Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs587780455 GRCh38 Chromosome 12, 51807116: 51807116
11 NID1 NM_002508.2(NID1): c.3385+1G> A single nucleotide variant Likely pathogenic rs730882225 GRCh38 Chromosome 1, 235980495: 235980495
12 NID1 NM_002508.2(NID1): c.3385+1G> A single nucleotide variant Likely pathogenic rs730882225 GRCh37 Chromosome 1, 236143795: 236143795
13 SPTAN1 NM_001130438.2(SPTAN1): c.6908_6916delACCAGCTGG (p.Asp2303_Leu2305del) deletion Pathogenic/Likely pathogenic rs796053340 GRCh38 Chromosome 9, 128632272: 128632280
14 SPTAN1 NM_001130438.2(SPTAN1): c.6908_6916delACCAGCTGG (p.Asp2303_Leu2305del) deletion Pathogenic/Likely pathogenic rs796053340 GRCh37 Chromosome 9, 131394551: 131394559
15 GRIN2A NM_000833.4(GRIN2A): c.3827C> G (p.Ala1276Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs145063086 GRCh38 Chromosome 16, 9763717: 9763717
16 GRIN2A NM_000833.4(GRIN2A): c.3827C> G (p.Ala1276Gly) single nucleotide variant Conflicting interpretations of pathogenicity rs145063086 GRCh37 Chromosome 16, 9857574: 9857574
17 SCN2A NM_021007.2(SCN2A): c.571T> G (p.Trp191Gly) single nucleotide variant Likely pathogenic rs1057519525 GRCh37 Chromosome 2, 166165270: 166165270
18 SCN2A NM_021007.2(SCN2A): c.571T> G (p.Trp191Gly) single nucleotide variant Likely pathogenic rs1057519525 GRCh38 Chromosome 2, 165308760: 165308760
19 CACNA1H NM_021098.2(CACNA1H): c.1546C> T (p.His516Tyr) single nucleotide variant Uncertain significance rs1057519554 GRCh38 Chromosome 16, 1201996: 1201996
20 CACNA1H NM_021098.2(CACNA1H): c.1546C> T (p.His516Tyr) single nucleotide variant Uncertain significance rs1057519554 GRCh37 Chromosome 16, 1251996: 1251996
21 MECP2 NM_004992.3(MECP2): c.915G> T (p.Lys305Asn) single nucleotide variant Likely pathogenic rs1057519543 GRCh37 Chromosome X, 153296364: 153296364
22 MECP2 NM_004992.3(MECP2): c.915G> T (p.Lys305Asn) single nucleotide variant Likely pathogenic rs1057519543 GRCh38 Chromosome X, 154030913: 154030913
23 CDKL5 NM_003159.2(CDKL5): c.2641C> T (p.Gln881Ter) single nucleotide variant Pathogenic rs1057519541 GRCh37 Chromosome X, 18646635: 18646635
24 CDKL5 NM_003159.2(CDKL5): c.2641C> T (p.Gln881Ter) single nucleotide variant Pathogenic rs1057519541 GRCh38 Chromosome X, 18628515: 18628515

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
12.7 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B
2
Show member pathways
12.32 GRIN2A GRIN2B KCNT1 SCN1A SCN2A SCN8A
3 12.17 CNTNAP2 GRIN2A GRIN2B SCN1A SCN2A SCN8A
4
Show member pathways
11.72 SCN1A SCN2A SCN8A SPTAN1
5
Show member pathways
11.54 CHRNA2 CHRNA4 CHRNB2
6
Show member pathways
11.46 SCN1A SCN2A SCN8A
7 10.8 GRIN2A GRIN2B
8 10.73 SCN1A SCN2A SCN8A SPTAN1
9
Show member pathways
10.71 GABRG2 TSPO
10 10.62 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B

GO Terms for Focal Epilepsy

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 neuron projection GO:0043005 9.88 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B
2 axon GO:0030424 9.85 CNTNAP2 GABRG2 SCN1A SCN2A SCN8A
3 glutamatergic synapse GO:0098978 9.83 CDKL5 GRIN2A LGI1 MTOR SCN2A
4 integral component of presynaptic membrane GO:0099056 9.69 CHRNA4 CHRNB2 SCN2A
5 postsynaptic membrane GO:0045211 9.63 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B
6 axon initial segment GO:0043194 9.56 SCN1A SCN8A
7 synapse GO:0045202 9.56 CDKL5 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A
8 dopaminergic synapse GO:0098691 9.54 CHRNA4 CHRNB2
9 acetylcholine-gated channel complex GO:0005892 9.54 CHRNA2 CHRNA4 CHRNB2
10 NMDA selective glutamate receptor complex GO:0017146 9.52 GRIN2A GRIN2B
11 node of Ranvier GO:0033268 9.5 SCN1A SCN2A SCN8A
12 sodium channel complex GO:0034706 9.49 SCN1A SCN2A
13 voltage-gated sodium channel complex GO:0001518 9.43 SCN1A SCN2A SCN8A
14 cell junction GO:0030054 9.28 CHRNA2 CHRNA4 CHRNB2 CNTNAP2 GABRG2 GRIN2A
15 membrane GO:0016020 10.38 CHRNA2 CHRNA4 CHRNB2 CNTNAP2 DEPDC5 GABRG2
16 integral component of plasma membrane GO:0005887 10.09 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 brain development GO:0007420 9.91 CNTNAP2 GRIN2A GRIN2B MTOR
2 MAPK cascade GO:0000165 9.89 GRIN2A GRIN2B IL1B SPTAN1
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 IL1B
5 memory GO:0007613 9.78 CHRNB2 GRIN2A IL1B
6 sodium ion transmembrane transport GO:0035725 9.76 SCN1A SCN2A SCN8A
7 ion transmembrane transport GO:0034220 9.76 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A SCN1A
8 learning GO:0007612 9.74 CHRNB2 CNTNAP2 GRIN2A
9 nervous system process GO:0050877 9.73 CHRNA2 CHRNA4 CHRNB2 GABRG2
10 excitatory postsynaptic potential GO:0060079 9.72 CHRNA2 CHRNA4 CHRNB2 GRIN2A GRIN2B
11 sensory perception of pain GO:0019233 9.71 CHRNA4 CHRNB2 GRIN2A
12 social behavior GO:0035176 9.71 CHRNB2 CNTNAP2 IL1B MTOR
13 visual learning GO:0008542 9.7 CHRNB2 GRIN2A MTOR
14 neuronal action potential GO:0019228 9.67 SCN1A SCN2A SCN8A
15 positive regulation of glial cell proliferation GO:0060252 9.65 IL1B MTOR TSPO
16 regulation of postsynaptic membrane potential GO:0060078 9.65 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A
17 membrane depolarization during action potential GO:0086010 9.63 SCN1A SCN2A SCN8A
18 action potential GO:0001508 9.62 CHRNA4 CHRNB2
19 glutamate receptor signaling pathway GO:0007215 9.62 GRIN2A GRIN2B
20 acetylcholine receptor signaling pathway GO:0095500 9.6 CHRNA4 CHRNB2
21 excitatory chemical synaptic transmission GO:0098976 9.58 GRIN2A GRIN2B
22 behavioral response to nicotine GO:0035095 9.56 CHRNA4 CHRNB2
23 calcium ion transmembrane import into cytosol GO:0097553 9.55 GRIN2A GRIN2B
24 regulation of membrane potential GO:0042391 9.5 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A KCNT1
25 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 14)
# Name GO ID Score Top Affiliating Genes
1 voltage-gated ion channel activity GO:0005244 9.71 SCN1A SCN2A SCN8A
2 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.7 GRIN2A GRIN2B SPTAN1
3 ligand-gated ion channel activity GO:0015276 9.61 CHRNA2 CHRNA4 CHRNB2
4 sodium channel activity GO:0005272 9.58 SCN1A SCN2A SCN8A
5 voltage-gated sodium channel activity GO:0005248 9.54 SCN1A SCN2A SCN8A
6 ionotropic glutamate receptor activity GO:0004970 9.51 GRIN2A GRIN2B
7 acetylcholine binding GO:0042166 9.5 CHRNA2 CHRNA4 CHRNB2
8 benzodiazepine receptor activity GO:0008503 9.49 GABRG2 TSPO
9 NMDA glutamate receptor activity GO:0004972 9.48 GRIN2A GRIN2B
10 glutamate-gated calcium ion channel activity GO:0022849 9.46 GRIN2A GRIN2B
11 acetylcholine-gated cation-selective channel activity GO:0022848 9.43 CHRNA2 CHRNA4 CHRNB2
12 acetylcholine receptor activity GO:0015464 9.33 CHRNA2 CHRNA4 CHRNB2
13 ion channel activity GO:0005216 9.28 CHRNA2 CHRNA4 CHRNB2 GABRG2 GRIN2A GRIN2B
14 extracellular ligand-gated ion channel activity GO:0005230 9.26 CHRNA2 CHRNA4 CHRNB2 GABRG2

Sources for Focal Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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