Aliases & Classifications for Focal Epilepsy

MalaCards integrated aliases for Focal Epilepsy:

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

Classifications:



External Ids:

Disease Ontology 12 DOID:2234
MeSH 44 D004828
NCIt 50 C122812
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 epilepsy, nocturnal frontal lobe, 3 and epilepsy, focal, with speech disorder and with or without mental retardation, and has symptoms including seizures An important gene associated with Focal Epilepsy is SCN1A (Sodium Voltage-Gated Channel Alpha Subunit 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Neuropathic Pain-Signaling in Dorsal Horn Neurons. The drugs Clobazam and Eslicarbazepine acetate have been mentioned in the context of this disorder. Affiliated tissues include brain, temporal lobe and cortex, and related phenotypes are behavior/neurological and growth/size/body region

Related Diseases for Focal Epilepsy

Diseases related to Focal Epilepsy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 126)
# Related Disease Score Top Affiliating Genes
1 epilepsy, nocturnal frontal lobe, 3 32.7 CHRNA4 CHRNB2
2 epilepsy, focal, with speech disorder and with or without mental retardation 32.4 GRIN2A GRIN2B
3 epilepsy, nocturnal frontal lobe, 1 32.0 CHRNA2 CHRNA4 CHRNB2 GABRG2 SCN1A
4 encephalopathy 30.4 CDKL5 SCN1A SPTAN1
5 febrile seizures 30.3 CHRNA4 CHRNB2 CPA6 GABRG2 SCN1A
6 status epilepticus 30.2 GRIN2B LGI1 SCN1A
7 attention deficit-hyperactivity disorder 30.1 CHRNA4 CNTNAP2 GRIN2A GRIN2B
8 encephalitis 29.8 IL1B LGI1 TSPO
9 epileptic encephalopathy, early infantile, 6 29.5 CDKL5 GABRG2 KCNT1 SCN1A SCN2A SCN8A
10 epilepsy 29.5 CDKL5 CHRNA2 CHRNA4 CHRNB2 CPA6 DEPDC5
11 west syndrome 29.2 CDKL5 GRIN2B KCNT1 SCN1A SCN2A SCN8A
12 benign epilepsy with centrotemporal spikes 28.9 CNTNAP2 CPA6 DEPDC5 GABRG2 GRIN2A KCNT1
13 epilepsy, idiopathic generalized 10 28.8 CHRNA4 CPA6 GABRG2 LGI1 SCN1A SCN2A
14 autosomal dominant partial epilepsy with auditory features 12.3
15 complex partial epilepsy 12.1
16 benign infantile focal epilepsy with midline spikes and waves during sleep 12.1
17 simple partial epilepsy 12.0
18 epilepsy, partial, with pericentral spikes 12.0
19 focal epilepsy-intellectual disability-cerebro-cerebellar malformation 12.0
20 benign partial epilepsy with secondarily generalized seizures in infancy 11.9
21 benign partial epilepsy of infancy with complex partial seizures 11.9
22 epilepsy, partial, familial 11.9
23 myoclonus epilepsy partial seizure 11.9
24 pitt-hopkins-like syndrome 1 11.9
25 epilepsy, familial focal, with variable foci 1 11.7
26 centralopathic epilepsy 11.5
27 epilepsy-aphasia spectrum 11.1
28 epilepsy, nocturnal frontal lobe, 4 11.0
29 epilepsy, nocturnal frontal lobe, 5 11.0
30 autosomal dominant nocturnal frontal lobe epilepsy 2 11.0 CHRNA4 CHRNB2
31 myoclonic astatic epilepsy 10.9 GRIN2B SCN1A
32 landau-kleffner syndrome 10.9 GRIN2A TBC1D24
33 epilepsy with generalized tonic-clonic seizures 10.8 SCN1A SCN2A TBC1D24
34 seizures, benign familial infantile, 1 10.8
35 epilepsy, nocturnal frontal lobe, 2 10.8
36 epilepsy, familial focal, with variable foci 2 10.8
37 epilepsy, familial focal, with variable foci 3 10.8
38 febrile infection-related epilepsy syndrome 10.8
39 benign familial infantile epilepsy 10.8 CHRNA2 SCN2A SCN8A
40 seizure disorder 10.8 CDKL5 SCN1A SCN2A
41 speech disorder 10.8 CNTNAP2 GRIN2A GRIN2B
42 myoclonic epilepsy of infancy 10.8 GABRG2 SCN1A SCN8A
43 tobacco addiction 10.8 CHRNA2 CHRNA4 CHRNB2
44 early myoclonic encephalopathy 10.8 CDKL5 GABRG2 SCN1A
45 childhood electroclinical syndrome 10.8 GABRG2 GRIN2A TBC1D24
46 adolescence-adult electroclinical syndrome 10.7 GABRG2 SCN1A TBC1D24
47 malignant migrating partial seizures of infancy 10.7 KCNT1 SCN1A SCN2A TBC1D24
48 neonatal period electroclinical syndrome 10.7 CDKL5 SCN1A SCN2A TBC1D24
49 disease of mental health 10.7 CHRNA4 GRIN2A GRIN2B
50 autosomal dominant nocturnal frontal lobe epilepsy 10.6 CHRNA2 CHRNA4 CHRNB2 DEPDC5 KCNT1

Graphical network of the top 20 diseases related to Focal Epilepsy:



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 TSPO CHRNA4 KCNT1 CHRNB2 LGI1 MTOR
2 growth/size/body region MP:0005378 10.07 TSPO SCN8A SPTAN1 CHRNB2 LGI1 MTOR
3 mortality/aging MP:0010768 9.97 TSPO SCN8A SPTAN1 CHRNA4 CHRNB2 LGI1
4 nervous system MP:0003631 9.89 SPTAN1 KCNT1 CHRNB2 LGI1 MTOR CNTNAP2
5 normal MP:0002873 9.23 SPTAN1 TSPO KCNT1 CHRNB2 MTOR SCN1A

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
Clobazam Approved, Illicit Phase 4 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 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
Vigabatrin Approved Phase 4,Not Applicable 68506-86-5, 60643-86-9 5665
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,Not Applicable
20 Diuretics, Potassium Sparing Phase 4,Phase 3,Phase 2,Phase 1
21 Sodium Channel Blockers Phase 4,Phase 3,Phase 2,Phase 1
22 Cytochrome P-450 CYP3A Inducers Phase 4,Phase 3,Phase 1
23 Analgesics Phase 4,Phase 3,Phase 2,Phase 1
24 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1
25 Antimanic Agents Phase 4,Phase 3,Phase 1
26 calcium channel blockers Phase 4,Phase 3,Phase 2
27 Calcium, Dietary Phase 4,Phase 3,Phase 2
28 Central Nervous System Depressants Phase 4,Phase 3,Phase 2,Phase 1
29 Excitatory Amino Acid Antagonists Phase 4,Phase 3,Not Applicable
30 Excitatory Amino Acids Phase 4,Phase 3,Not Applicable
31 Neuroprotective Agents Phase 4,Phase 3,Phase 2
32 Neurotransmitter Agents Phase 4,Phase 3,Phase 2,Not Applicable
33 Nootropic Agents Phase 4,Phase 3,Phase 2
34 Peripheral Nervous System Agents Phase 4,Phase 3,Phase 2,Phase 1
35 Protective Agents Phase 4,Phase 3,Phase 2
36 Psychotropic Drugs Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
37 Tranquilizing Agents Phase 4,Phase 3,Phase 2,Phase 1
38 Antioxidants Phase 4,Phase 3
39 Anti-Anxiety Agents Phase 4,Phase 3,Phase 2
40 Anti-Obesity Agents Phase 4,Phase 3,Phase 2
41 Antiparkinson Agents Phase 4,Not Applicable
42 GABA Agents Phase 4,Phase 3,Not Applicable
43 GABA Agonists Phase 4
44 Neurotransmitter Uptake Inhibitors Phase 4,Not Applicable
45 GABA Modulators Phase 4
46 Hypnotics and Sedatives Phase 4
47
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
48
Naloxone Approved, Vet_approved Phase 3 465-65-6 5284596
49 tannic acid Approved, Nutraceutical Phase 3
50 Pharmaceutical Solutions Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 174)
# Name Status NCT ID Phase Drugs
1 Clobazam Adjunctive Treatment of Adults With Refractory Focal Epilepsy Unknown status NCT02726919 Phase 4 Clobazam
2 Randomized Controlled Trial to Assess Effects of Lacosamide on Sleep and Wake in Adults With Focal Epilepsy Completed NCT01190098 Phase 4 Lacosamide;Placebo
3 Study on the Treatment of Elderly Patients With Older and Newer Antiepileptic Drugs Completed NCT00438451 Phase 4 Levetiracetam;Carbamazepine;Lamotrigine
4 Open-label, Multi-center Trial of Zonisamide as Adjunctive Therapy in Patients With Uncontrolled Partial Epilepsy Completed NCT01140867 Phase 4 zonisamide
5 A Prospective, Observational Study On The Effectiveness Of New Antiepileptic Drugs As First Bitherapy In The Daily Clinical Practice Completed NCT00855738 Phase 4 Gabapentin, Lamotrigine, Levetiracetam, Pregabalin, Oxcarbacepine, Tiagabine, Topiramate, Zonisamide
6 Cognitive and Behavioral Effects of Lacosamide Completed NCT01175954 Phase 4 Lacosamide;Lacosamide
7 Levetiracetam Versus Oxcarbazepine as Monotherapy to Evaluate Efficacy and Safety in Subjects With Newly or Recently Diagnosed Partial Epilepsy Completed NCT01498822 Phase 4 Levetiracetam;Oxcarbazepine
8 Trial to Evaluate the Safety and Efficacy of Keppra After Conversion to Mono-therapy in Subjects With Partial Epilepsy Completed NCT00630357 Phase 4 Levetiracetam (Keppra)
9 The Effects on Cognitive Function of Levetiracetam (Keppra®) Compared to Carbamazepine (Tegretol®, Carmazepine®) as Monotherapy for Children With Partial Seizure; A Multicentric Randomized Controlled Study Completed NCT02208492 Phase 4 Levetiracetam;Carabamazepine
10 Trial to Assess Optimized Dosage of Lacosamide as add-on Therapy in Patients With Partial Onset Seizure Completed NCT01235403 Phase 4 Lacosamide
11 Trial to Assess Lacosamide as the First add-on Anti-epileptic Drug Treatment in Patients With Partial-onset Seizures Completed NCT00955357 Phase 4 Lacosamide
12 S.K.A.T.E.: Safety of Keppra as Adjunctive Therapy in Epilepsy Completed NCT00630968 Phase 4 Levetiracetam (Keppra)
13 Open Label Safety and Efficacy Study of Levetiracetam in Patients With Epilepsy Completed NCT00160654 Phase 4 Levetiracetam
14 Safety and Efficacy of Oxcarbazepine Monotherapy in Adults With Partial Seizures Completed NCT00275925 Phase 4 Oxcarbazepine
15 Transcranial Direct Current Stimulation, Treatment of Childhood Drug-Resistant Lennox-Gastaut Syndrome, A Pilot Study Completed NCT02731300 Phase 4
16 Lamotrigine Cognitive Function Study in Adult Untreated Epilepsies Completed NCT00896987 Phase 4 lamotrigine (Lamictal);Carbamazepine (Tegretol)
17 Comparative Study Of Pregabalin And Gabapentin As Adjunctive Therapy In Subjects With Partial Seizures Completed NCT00537940 Phase 4 Pregabalin;Gabapentin
18 Electroclinical Effect of Diazepam and Steroid in Patients With Benign Childhood Epilepsy With Centrotemporal Spikes Not yet recruiting NCT03490487 Phase 4 conventional antiepileptic drugs;oral steroid;Diazepam
19 Perampanel for Treatment of Adults With Refractory Focal Epilepsy : a Pilot Study. Terminated NCT02727101 Phase 4 perampanel
20 Study Comparing Best Medical Practice With or Without VNS Therapy in Pharmacoresistant Partial Epilepsy Patients Terminated NCT00522418 Phase 4 Best Medical Practive
21 Effect on Anxiety in Partial Epilepsy Patients Treated With Pregabalin Terminated NCT01128712 Phase 4 Pregabalin;Pregabalin
22 Pregabalin In Partial Seizures (PREPS): An Open-Label, Multicenter Add On Therapy Trial Terminated NCT00407797 Phase 4 Pregabalin
23 Sabril for Complex Partial Seizures in Adult Tolerability Study (TS) Patients Terminated NCT01266291 Phase 4 vigabatrin
24 Safety and Tolerability of OXC XR as Adjunctive Therapy in Subjects With Refractory Partial Epilepsy Completed NCT00908349 Phase 3 Oxcarbazepine XR
25 Efficacy and Safety of Eslicarbazepine Acetate as Adjunctive Therapy for Refractory Partial Epilepsy Completed NCT00957372 Phase 3 eslicarbazepine acetate;placebo (Part I);ESL - Open-label Extension (Part II)
26 Efficacy and Safety Study of BIA 2-093 in Combination With Other Anti-Epileptic Drugs to Treat Partial Epilepsy Completed NCT00957047 Phase 3 eslicarbazepine acetate;placebo;ESL - Part II
27 Safety & Efficacy of Eslicarbazepine Monotherapy in Sub.w/Partial Epilepsy Not Well Controlled by Current Antiepileptic Completed NCT01091662 Phase 3 Eslicarbazepine acetate 1600 mg;Eslicarbazepine acetate 1200 mg
28 Safety and Efficacy of Eslicarbazepine Acetate Monotherapy in Subjects With Partial Epilepsy Not Well Controlled by Current Antiepileptic Drugs Completed NCT00866775 Phase 3 Eslicarbazepine acetate;Eslicarbazepine acetate
29 Efficacy and Safety of Levetiracetam in Partial Seizures Control, With or Without Secondary Generalization Completed NCT01392768 Phase 3 Levetiracetam;Placebo
30 A Double-blind Study to Compare the Efficacy and Safety of Zonisamide and Carbamazepine as Monotherapy, in Newly Diagnosed Partial Epilepsy Completed NCT00477295 Phase 3 Zonisamide;Carbamazepine
31 Study Of The Safety And Efficacy Of Lyrica In The Treatment Of Newly Diagnosed Partial Epilepsy Completed NCT00280059 Phase 3 Pregabalin;Lamotrigine
32 An Open Label Study of Levetiracetam Monotherapy in Patients With Newly Diagnosed Focal Epilepsy Completed NCT01506882 Phase 3 Levetiracetam (LEV)
33 Open Label Safety and Efficacy Study of Levetiracetam in Korean Patients With Epilepsy Completed NCT00160628 Phase 3 Levetiracetam
34 Determine Safety and Efficacy of Long-term Oral Lacosamide in Patients With Partial Seizures Completed NCT00522275 Phase 3 lacosamide
35 Efficacy and Safety of Eslicarbazepine Acetate as Adjunctive Therapy for Refractory Partial Seizures Completed NCT00957684 Phase 3 eslicarbazepine acetate;placebo
36 Conversion To Monotherapy With Lamictal Extended Release Tablets For Treatment Of Partial Epilepsy Completed NCT00355082 Phase 3 lamotrigine, 300 mg/day;lamotrigine, 250 mg/day
37 Topiramate as Adjunctive Therapy in Infants 1-24 Months for the Control of Partial Onset Seizures Completed NCT00113815 Phase 3 topiramate;topiramate;topiramate;placebo
38 Safety of Intravenous Lacosamide Dose Followed by Twice Daily Oral Lacosamide in Subjects With Partial-onset Seizures Completed NCT00655551 Phase 3 lacosamide;lacosamide;lacosamide
39 Study to Assess the Long-term Safety of Oral Lacosamide in Subjects With Partial-onset Seizures Completed NCT00655486 Phase 3 lacosamide
40 Brivaracetam Efficacy and Safety Study in Subjects With Partial Onset Seizures Completed NCT01261325 Phase 3 Placebo;Brivaracetam;Brivaracetam;Antiepileptic drugs with market authorization available per country
41 Combined Role of Position Emission Tomography (PET) and Magnetoencephalography (MEG) in Nonlesional Epilepsy Completed NCT00741559 Phase 3
42 Pregabalin Versus Levetiracetam In Partial Seizures Completed NCT00537238 Phase 3 pregabalin;levetiracetam
43 A Study of the Effectiveness and Safety of Topiramate Monotherapy in Patients With Recently Diagnosed Partial-Onset Seizure Completed NCT00230698 Phase 3 topiramate
44 Extension Study Of Long-Term Safety And Efficacy Of Pregabalin As Monotherapy (Lyrica) In Patients With Partial Seizures Completed NCT00596466 Phase 3 pregabalin
45 A Study of the Effectiveness and Safety of Topiramate in the Treatment of Children With Epilepsy Completed NCT00236743 Phase 3 topiramate
46 Effect of Brivaracetam (BRV) on Nonpsychotic Behavioral Side Effects in Subjects Treated Previously With Levetiracetam (LEV) Completed NCT01653262 Phase 3 Brivaracetam
47 Once-A-Day Pregabalin For Partial Seizures Completed NCT01262677 Phase 3 pregabalin;pregabalin;pregabalin;pregabalin;pregabalin;pregabalin;placebo
48 Prospective Pilot Study on Metabolism and Weight Changes in Topiramate-Treated Epilepsy Patients Completed NCT00236886 Phase 3 topiramate
49 A Study of the Efficacy and Safety of Topiramate Treatment in Patients With Epilepsy Completed NCT00266591 Phase 3 topiramate
50 Double-blind, Randomized Study Evaluating the Efficacy and Safety of Brivaracetam in Adults With Partial Onset Seizures Completed NCT00490035 Phase 3 Brivaracetam;Brivaracetam;Brivaracetam

Search NIH Clinical Center for Focal Epilepsy

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


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

Publications for Focal Epilepsy

Articles related to Focal Epilepsy:

(show top 50) (show all 688)
# Title Authors Year
1
Re: Field testing of ICHD-3 beta criteria of periictal headache in patients with focal epilepsy - a prospective diary study. ( 29754499 )
2018
2
Focal Epilepsy in a Teenager With Facial Atrophy and Hair Loss. ( 29961525 )
2018
3
Losigamone add-on therapy for focal epilepsy. ( 29355908 )
2018
4
Progressive topological disorganization of brain network in focal epilepsy. ( 29344935 )
2018
5
Magnetoencephalographic imaging of ictal high-frequency oscillations (80-200A Hz) in pharmacologically resistant focal epilepsy. ( 29111591 )
2018
6
Spike-related haemodynamic responses overlap with high frequency oscillations in patients with focal epilepsy. ( 29360943 )
2018
7
Effect of modified Atkins diet in adults with drug-resistant focal epilepsy: A randomized clinical trial. ( 29901816 )
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
Indirect comparison of third-generation antiepileptic drugs as adjunctive treatment for uncontrolled focal epilepsy. ( 29197667 )
2018
10
Meta-analyses of newer antiepileptic drugs as adjunct for treatment of focal epilepsy in children. ( 29220742 )
2018
11
Significance of FDG-PET Hypermetabolism in Children with Intractable Focal Epilepsy. ( 29672310 )
2018
12
Focal Epilepsy: When the Brakes on the Network Go Kaput. ( 29671841 )
2018
13
Electroencephalographic and Electrocardiographic Effect of Intravenous Lacosamide in Refractory Focal Epilepsy. ( 29851686 )
2018
14
Accelerated long-term forgetting in focal epilepsies with special consideration given to patients with diagnosed and suspected limbic encephalitis. ( 29475601 )
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
Histological and MRI markers of white matter damage in focal epilepsy. ( 29227798 )
2017
34
A de novo loss-of-function GRIN2A mutation associated with childhood focal epilepsy and acquired epileptic aphasia. ( 28182669 )
2017
35
Persistent uncrossed corticospinal connections in patients with intractable focal epilepsy. ( 28830029 )
2017
36
Understanding the burden of focal epilepsy as a function of seizure frequency in the United States, Europe, and Brazil. ( 29588949 )
2017
37
Teaching Video Neuro<i>Images</i>: Epilepsia partialis continua in an adolescent with preexisting focal epilepsy. ( 29203537 )
2017
38
Asystole in focal epilepsy complicating a traumatic subdural hematoma. ( 28765766 )
2017
39
Corrigendum to 'Cost-Utility of Video-Electroencephalography Monitoring Followed by Surgery in Adults with Drug-Resistant Focal Epilepsy in Thailand' [World Neurosurgery 98 (2017) 750-760]. ( 28633983 )
2017
40
Newer antiepileptic drugs compared to levetiracetam as adjunctive treatments for uncontrolled focal epilepsy: An indirect comparison. ( 28854405 )
2017
41
Bimodal coupling of ripples and slower oscillations during sleep in patients with focal epilepsy. ( 28948998 )
2017
42
Seizure activity per se does not induce tissue damage markers in human neocortical focal epilepsy. ( 28749594 )
2017
43
Focal epilepsy with paroxysmal pain due to somatic injury. ( 28652224 )
2017
44
Combined electroencephalography-functional magnetic resonance imaging and electrical source imaging improves localization of pediatric focal epilepsy. ( 28749544 )
2017
45
Adjunctive lacosamide for focal epilepsy: an open-label trial evaluating the impact of flexible titration and dosing on safety and seizure outcomes. ( 28597842 )
2017
46
High-frequency oscillations detected in ECoG recordings correlate with cavernous malformation and seizure-free outcome in a child with focal epilepsy: A case report. ( 29588956 )
2017
47
Comparison between Scalp EEG and Behind-the-Ear EEG for Development of a Wearable Seizure Detection System for Patients with Focal Epilepsy. ( 29295522 )
2017
48
Understanding Lennox-Gastaut syndrome: insights from focal epilepsy patients with Lennox-Gastaut features. ( 28584915 )
2017
49
Can we predict drug response by volumes of the corpus callosum in newly diagnosed focal epilepsy? ( 28828212 )
2017
50
Ictal 18F-FDG PET/MRI in a Patient With Cortical Heterotopia and Focal Epilepsy. ( 28806243 )
2017

Variations for Focal Epilepsy

ClinVar genetic disease variations for Focal Epilepsy:

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

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

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

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

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

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

Sources 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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