MCID: RRP028
MIFTS: 17

Rare Epilepsy

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Summaries for Rare Epilepsy

MalaCards based summary : Rare Epilepsy is related to myoclonic epilepsy of unverricht and lundborg and progressive myoclonus epilepsy. Affiliated tissues include temporal lobe and occipital lobe.

Related Diseases for Rare Epilepsy

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



Diseases related to Rare Epilepsy

Symptoms & Phenotypes for Rare Epilepsy

Drugs & Therapeutics for Rare Epilepsy

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2, Prospective, Interventional, Open-Label, Multi-Site, Extension Study to Assess the Long-Term Safety and Tolerability of TAK-935 (OV935) as Adjunctive Therapy in Patients With Rare Epilepsy Recruiting NCT03635073 Phase 2 TAK-935

Search NIH Clinical Center for Rare Epilepsy

Genetic Tests for Rare Epilepsy

Anatomical Context for Rare Epilepsy

MalaCards organs/tissues related to Rare Epilepsy:

40
Temporal Lobe, Occipital Lobe

Publications for Rare Epilepsy

Articles related to Rare Epilepsy:

(show top 50) (show all 51)
# Title Authors PMID Year
1
The Prevalence and Healthcare Utilization of Rare Neurological Diseases in Hong Kong: 2014-2018. 61
33793024 2021
2
How to Help Your Patients Enroll in the New-Onset Refractory Status Epilepticus (NORSE) and Febrile Infection-Related Epilepsy Syndrome (FIRES) Family Registry, and Other Rare Epilepsy Registries. 61
33769129 2021
3
How to Help Your Patients Enroll in the New-Onset Refractory Status Epilepticus (NORSE) and Febrile Infection-Related Epilepsy Syndrome (FIRES) Family Registry, and Other Rare Epilepsy Registries. 61
33663265 2021
4
Clinical and electrographic features of persistent seizures and status epilepticus associated with anti-NMDA receptor encephalitis (anti-NMDARE). 61
33258455 2020
5
The utility of whole exome sequencing for identification of the molecular etiology in autosomal recessive developmental and epileptic encephalopathies. 61
32705489 2020
6
Treatment of Refractory Convulsive Status Epilepticus: A Comprehensive Review by the American Epilepsy Society Treatments Committee. 61
32822230 2020
7
A retrospective review of changes and challenges in the use of antiseizure medicines in Dravet syndrome in Norway. 61
32913951 2020
8
Generation of induced pluripotent stem cell GZHMCi001-A and GZHMCi001-B derived from peripheral blood mononuclear cells of epileptic patients with KCNC1 mutation. 61
32712483 2020
9
New and Emerging Medications for Treatment of Pediatric Epilepsy. 61
31980296 2020
10
ACTON PROLONGATUM® suppresses spasms head to head with Acthar® Gel in the model of infantile spasms. 61
32092460 2020
11
Epigenetic Therapeutic Intervention for a Rare Epilepsy Disorder. 61
32064921 2020
12
Inactivation of Lgi1 in murine neuronal precursor cells leads to dysregulation of axon guidance pathways. 61
31276752 2020
13
Network for Therapy in Rare Epilepsies (NETRE): Lessons From the Past 15 Years. 61
33519703 2020
14
Drug Development for Rare Paediatric Epilepsies: Current State and Future Directions. 61
31734883 2019
15
Changes in Calcium Homeostasis and Gene Expression Implicated in Epilepsy in Hippocampi of Mice Overexpressing ORAI1. 61
31698854 2019
16
Ketogenic parenteral nutrition in three paediatric patients with epilepsy with migrating focal seizures. 61
31617493 2019
17
Molecular Specialization of GABAergic Synapses on the Soma and Axon in Cortical and Hippocampal Circuit Function and Dysfunction. 61
31297048 2019
18
Comorbidities of Rare Epilepsies: Results from the Rare Epilepsy Network. 61
30195559 2018
19
Diagnostic exome sequencing of syndromic epilepsy patients in clinical practice. 61
29286531 2018
20
Occipital epilepsy versus progressive myoclonic epilepsy in a patient with continuous occipital spikes and photosensitivity in electroencephalogram: A case report. 61
29642155 2018
21
Common terms for rare epilepsies: Synonyms, associated terms, and links to structured vocabularies. 61
29588993 2018
22
Renal manifestations of tuberous sclerosis complex: patients' and parents' knowledge and routines for renal follow-up - a questionnaire study. 61
29439672 2018
23
Febrile Infection-Related Epilepsy Syndrome (FIRES): An Overview of Treatment and Recent Patents. 61
29745347 2018
24
Response to adrenocorticotropic in attention deficit hyperactivity disorder-like symptoms in electrical status epilepticus in sleep syndrome is related to electroencephalographic improvement: A retrospective study. 61
28778058 2017
25
Prevalence of Renal Angiomyolipomas and Spontaneous Bleeding Related to Angiomyolipomas in Tuberous Sclerosis Complex Patients in France and Norway-a Questionnaire Study. 61
28232177 2017
26
Clinical and neurophysiological features of familial cortical myoclonic tremor with epilepsy. 61
27613677 2016
27
Genetic Testing Requires NGS and Sanger Methodologies. 61
27651130 2016
28
Autosomal dominant epilepsy with auditory features: a new LGI1 family including a phenocopy with cortical dysplasia. 61
26459092 2016
29
Parkinson's Disease and Cryptogenic Epilepsy. 61
27688919 2016
30
Natural history of succinic semialdehyde dehydrogenase deficiency through adulthood. 61
26268900 2015
31
Changing shapes of glycogen-autophagy nexus in neurons: perspective from a rare epilepsy. 61
25699013 2015
32
The Classical Pathways of Occipital Lobe Epileptic Propagation Revised in the Light of White Matter Dissection. 61
26063964 2015
33
The Epilepsy Foundation leads in the Rare Epilepsy Network PCORI Award. 61
25203326 2014
34
Rational therapy from bench to bedside for a rare epilepsy. 61
25346642 2014
35
Genetic heterogeneity in familial nocturnal frontal lobe epilepsy. 61
25194481 2014
36
Migrating partial seizures in infancy and 47XYY syndrome: Cause or coincidence? 61
25667867 2014
37
Development of new treatment approaches for epilepsy: unmet needs and opportunities. 61
23909849 2013
38
The quest for juvenile myoclonic epilepsy genes. 61
23756480 2013
39
[The syndrome of malignant migrating partial seizures in infancy or Coppola-Dulac syndrome (19 cases)]. 61
23612406 2013
40
Refractory temporal lobe epilepsy caused by angiocentric glioma complicated with focal cortical dysplasia: a surgical case series. 61
23065092 2012
41
Ictal headache: headache as first ictal symptom in focal epilepsy. 61
22079436 2011
42
Temporo-spatial analyses define epileptogenic and functional zones in a case of Dyke-Davidoff-Masson syndrome. 61
21764333 2011
43
Angiocentric glioma: a clinicopathologic review of 5 tumors with identification of associated cortical dysplasia. 61
21809996 2011
44
Reading epilepsy. 61
20858629 2010
45
Rufinamide: a new antiepileptic drug treatment for Lennox-Gastaut syndrome. 61
20518600 2010
46
Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions. 61
19559753 2009
47
[Clinical polymorphism of malignant epilepsy of infancy with migrating multifocal seizures (8 cases)]. 61
19621482 2008
48
Focal chronic inflammatory epileptic encephalopathy in a patient with malformations of cortical development, with a review of the spectrum of chronic inflammatory epileptic encephalopathy. 61
17553120 2007
49
Role of genetics in the diagnosis and treatment of epilepsy. 61
17181426 2006
50
Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients. 61
16865694 2006

Variations for Rare Epilepsy

Expression for Rare Epilepsy

Search GEO for disease gene expression data for Rare Epilepsy.

Pathways for Rare Epilepsy

GO Terms for Rare Epilepsy

Sources for Rare 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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