MCID: PRT006
MIFTS: 29

Partial Motor Epilepsy

Categories: Neuronal diseases

Aliases & Classifications for Partial Motor Epilepsy

MalaCards integrated aliases for Partial Motor Epilepsy:

Name: Partial Motor Epilepsy 12 15 17
Epilepsy, Partial, Motor 44 70
Epilepsy, Focal Motor 12
Focal Motor Seizure 12

Classifications:



External Ids:

Disease Ontology 12 DOID:3327
MeSH 44 D020938
NCIt 50 C50847
SNOMED-CT 67 128612007
UMLS 70 C0016399

Summaries for Partial Motor Epilepsy

MalaCards based summary : Partial Motor Epilepsy, also known as epilepsy, partial, motor, is related to idiopathic hemiconvulsion-hemiplegia syndrome and genetic epilepsy with febrile seizures plus, and has symptoms including seizures and non-epileptic convulsion. An important gene associated with Partial Motor Epilepsy is SERPINA3 (Serpin Family A Member 3), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Neuroscience. The drug Caffeine has been mentioned in the context of this disorder. Related phenotypes are Resistant to vaccinia virus (VACV-A4L) infection and behavior/neurological

Related Diseases for Partial Motor Epilepsy

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

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 idiopathic hemiconvulsion-hemiplegia syndrome 11.1
2 genetic epilepsy with febrile seizures plus 10.2 SCN2A SCN1A
3 febrile seizures, familial, 5 10.2 SCN2A SCN1A
4 febrile seizures, familial, 2 10.2 SCN2A SCN1A
5 febrile seizures, familial, 1 10.2 SCN2A SCN1A
6 febrile infection-related epilepsy syndrome 10.2 SCN1A POLG
7 chronic wasting disease 10.2 SERPINA3 SCN2A
8 plagiocephaly 10.2 SCN1A POLG
9 epilepsy, nocturnal frontal lobe, 1 10.2 SCN1A KCNQ2
10 seizures, benign familial infantile, 3 10.2 SCN2A KCNQ2
11 epilepsy with generalized tonic-clonic seizures 10.2 SCN2A SCN1A
12 hemoglobin e disease 10.1 SERPINA3 SCN2A
13 central nervous system origin vertigo 10.1 SCN2A POLG
14 malignant migrating partial seizures of infancy 10.1 SCN2A SCN1A KCNT1
15 developmental and epileptic encephalopathy 9 10.1 SCN1A KCNT1 KCNQ2
16 myoclonic epilepsy of infancy 10.1 SCN8A SCN1A
17 encephalopathy due to defective mitochondrial and peroxisomal fission 1 10.1 SCN1A POLG
18 adolescence-adult electroclinical syndrome 10.1 SCN2A SCN1A KCNQ2
19 photosensitive epilepsy 10.0 SCN2A SCN1A KCNQ2
20 progressive familial heart block, type ia 10.0 SCN8A SCN1A
21 developmental and epileptic encephalopathy 7 10.0 KCNV2 KCNT1 KCNQ2
22 migraine, familial hemiplegic, 3 10.0 SCN2A SCN1A KCNV2
23 coffin-siris syndrome 4 10.0 SCN8A SCN2A
24 episodic ataxia, type 1 10.0 KCNV2 KCNQ2
25 generalized epilepsy with febrile seizures plus, type 7 10.0 SCN8A SCN1A
26 multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly 10.0
27 traumatic brain injury 10.0
28 trigeminal neuralgia 9.9 SCN8A SCN1A
29 landau-kleffner syndrome 9.9 SCN2A SCN1A KCNT1 KCNQ2
30 developmental and epileptic encephalopathy 13 9.9 SCN8A SCN2A SCN1A
31 low-grade astrocytoma 9.9 SCN8A SCN2A SCN1A
32 trigeminal nerve disease 9.9 SCN8A SCN2A SCN1A
33 hyperkalemic periodic paralysis 9.9 SCN8A SCN2A SCN1A
34 erythromelalgia 9.9 SCN8A SCN2A SCN1A
35 paramyotonia congenita of von eulenburg 9.9 SCN8A SCN2A SCN1A
36 paroxysmal extreme pain disorder 9.9 SCN8A SCN2A SCN1A
37 frontal sinusitis 9.9
38 hyperglycemia 9.9
39 myoclonus 9.9
40 autonomic nervous system disease 9.9 SCN8A SCN1A
41 epilepsy, familial temporal lobe, 3 9.8 LGI1 DEPDC5
42 reflex epilepsy 9.8 SCN2A SCN1A LGI1
43 autosomal dominant epilepsy with auditory features 9.8 LGI1 DEPDC5
44 early onset absence epilepsy 9.8 SCN2A SCN1A KCNQ2 DEPDC5
45 brugada syndrome 9.8 SCN8A SCN2A SCN1A KCNT1
46 febrile seizures 9.7 SCN8A SCN2A SCN1A KCNQ2
47 movement disease 9.7 SERPINA3 SCN2A LGI1
48 benign familial neonatal epilepsy 9.7 SCN8A SCN2A SCN1A KCNQ2
49 optic nerve disease 9.7 SERPINA3 POLG LGI1
50 neuromuscular junction disease 9.6 SERPINA3 LGI1

Graphical network of the top 20 diseases related to Partial Motor Epilepsy:



Diseases related to Partial Motor Epilepsy

Symptoms & Phenotypes for Partial Motor Epilepsy

UMLS symptoms related to Partial Motor Epilepsy:


seizures; non-epileptic convulsion

GenomeRNAi Phenotypes related to Partial Motor Epilepsy according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Resistant to vaccinia virus (VACV-A4L) infection GR00351-A-1 9.1 KCNQ2 KCNV2 SCN1A SCN2A SCN8A TRIT1

MGI Mouse Phenotypes related to Partial Motor Epilepsy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 DEPDC5 HLF KCNQ2 KCNT1 KCNT2 LGI1
2 nervous system MP:0003631 9.36 DEPDC5 HLF KCNQ2 KCNT1 KCNT2 KCNV2

Drugs & Therapeutics for Partial Motor Epilepsy

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


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Caffeine Approved 58-08-2 2519

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Multicenter Study to Evaluate the Efficacy, Safety, and Tolerability of Carisbamate as Adjunctive Therapy in Subjects With Partial Onset Seizures. Completed NCT00740623 Phase 3 Carisbamate;placebo;Carisbamate
2 The Open Label Extension Portion of the Study Entitled A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group, Multicenter Study to Evaluate the Efficacy, Safety, and Tolerability of Carisbamate as Adjunctive Therapy in Subjects With Partial Onset Seizures. Completed NCT00744731 Phase 3 placebo;carisbamate
3 Detecting PNES With Single-channel sEMG Active, not recruiting NCT03313362

Search NIH Clinical Center for Partial Motor Epilepsy

Cochrane evidence based reviews: epilepsy, partial, motor

Genetic Tests for Partial Motor Epilepsy

Anatomical Context for Partial Motor Epilepsy

Publications for Partial Motor Epilepsy

Articles related to Partial Motor Epilepsy:

# Title Authors PMID Year
1
[About an autochtonous case of neurocysticercosis in Mali]. 61
19950534 2009
2
[Partial motor epilepsy, intracranial hematoma and protein S defiency in a 49-year-old woman]. 61
10740105 2000
3
[Negative myoclonus]. 61
8277582 1993
4
Partial motor epilepsy with "negative myoclonus". 61
1898721 1991
5
[Partial motor epilepsy in nonketotic hyperglycemia. 2 cases]. 61
6235502 1984
6
[Individualization of so-called benign and functional epilepsy at different ages. Appraisal of variations corresponding the predisposition for epilepsy at these ages]. 61
6808599 1981
7
[Partial motor epilepsy, immediate postoperative complication in frontal sinusitis. Physiopathologic considerations]. 61
5151060 1971

Variations for Partial Motor Epilepsy

Expression for Partial Motor Epilepsy

Search GEO for disease gene expression data for Partial Motor Epilepsy.

Pathways for Partial Motor Epilepsy

Pathways related to Partial Motor Epilepsy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 SCN8A SCN2A SCN1A KCNV2 KCNT2 KCNT1
2 12.16 SCN8A SCN2A SCN1A KCNQ2
3
Show member pathways
12.02 SCN8A SCN2A SCN1A KCNV2 KCNT2 KCNT1
4
Show member pathways
11.64 KCNV2 KCNT2 KCNT1
5
Show member pathways
11.55 SCN8A SCN2A SCN1A KCNQ2
6
Show member pathways
11.31 SCN8A SCN2A SCN1A
7 10.4 SCN8A SCN2A SCN1A KCNQ2

GO Terms for Partial Motor Epilepsy

Cellular components related to Partial Motor Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon initial segment GO:0043194 9.33 SCN8A SCN1A KCNQ2
2 sodium channel complex GO:0034706 9.26 SCN2A SCN1A
3 voltage-gated sodium channel complex GO:0001518 9.13 SCN8A SCN2A SCN1A
4 node of Ranvier GO:0033268 8.92 SCN8A SCN2A SCN1A KCNQ2

Biological processes related to Partial Motor Epilepsy according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.83 SCN8A SCN2A SCN1A KCNV2 KCNQ2
2 nervous system development GO:0007399 9.81 SCN8A SCN2A LGI1 KCNQ2
3 ion transmembrane transport GO:0034220 9.76 SCN8A SCN2A SCN1A KCNQ2
4 sodium ion transport GO:0006814 9.67 SCN8A SCN2A SCN1A
5 potassium ion transport GO:0006813 9.67 KCNV2 KCNT2 KCNT1 KCNQ2
6 sodium ion transmembrane transport GO:0035725 9.65 SCN8A SCN2A SCN1A
7 potassium ion transmembrane transport GO:0071805 9.62 KCNV2 KCNT2 KCNT1 KCNQ2
8 cation transmembrane transport GO:0098655 9.58 SCN8A SCN2A SCN1A
9 ion transport GO:0006811 9.5 SCN8A SCN2A SCN1A KCNV2 KCNT2 KCNT1
10 neuronal action potential GO:0019228 9.43 SCN8A SCN2A SCN1A
11 membrane depolarization during action potential GO:0086010 9.33 SCN8A SCN2A SCN1A
12 regulation of ion transmembrane transport GO:0034765 9.02 SCN8A SCN2A SCN1A KCNV2 KCNQ2

Molecular functions related to Partial Motor Epilepsy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cation channel activity GO:0005261 9.58 SCN8A SCN2A SCN1A
2 sodium channel activity GO:0005272 9.54 SCN8A SCN2A SCN1A
3 potassium channel activity GO:0005267 9.46 KCNV2 KCNT2 KCNT1 KCNQ2
4 outward rectifier potassium channel activity GO:0015271 9.43 KCNT2 KCNT1
5 voltage-gated sodium channel activity GO:0005248 9.43 SCN8A SCN2A SCN1A
6 ion channel activity GO:0005216 9.35 SCN8A SCN2A SCN1A KCNV2 KCNQ2
7 intracellular sodium activated potassium channel activity GO:0005228 9.32 KCNT2 KCNT1
8 voltage-gated ion channel activity GO:0005244 9.02 SCN8A SCN2A SCN1A KCNV2 KCNQ2

Sources for Partial Motor Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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