MCID: ATM114
MIFTS: 29

Autoimmune Epilepsy

Categories: Genetic diseases, Immune diseases, Muscle diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Autoimmune Epilepsy

MalaCards integrated aliases for Autoimmune Epilepsy:

Name: Autoimmune Epilepsy 11 14

Classifications:



External Ids:

Disease Ontology 11 DOID:0080994

Summaries for Autoimmune Epilepsy

Disease Ontology: 11 An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction.

MalaCards based summary: Autoimmune Epilepsy is related to encephalitis and viral encephalitis. An important gene associated with Autoimmune Epilepsy is LGI1 (Leucine Rich Glioma Inactivated 1). The drugs Benzocaine and Tannic acid have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe, brain and t cells, and related phenotypes are nervous system and behavior/neurological

Related Diseases for Autoimmune Epilepsy

Diseases in the Epilepsy family:

Benign Familial Infantile Epilepsy Autoimmune Epilepsy
Depdc5-Related Epilepsy Kcnt1-Related Epilepsy
Infectious Disease with Epilepsy Inflammatory and Autoimmune Disease with Epilepsy
Infantile Epilepsy Syndrome Rare Epilepsy

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

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 encephalitis 30.3 PNMA2 LGI1 CNTNAP2 AMPH
2 viral encephalitis 29.5 PNMA2 LGI1 CNTNAP2 AMPH
3 movement disease 28.8 LGI1 IGLON5 GAD2 DPYSL5 CNTNAP2 AMPH
4 limbic encephalitis 28.5 SOX1 PNMA2 LGI1 IGLON5 GAD2 DPYSL5
5 epilepsy 10.6
6 autoimmune encephalitis 10.3
7 auditory agnosia 10.2 LGI1 CNTNAP2
8 transient global amnesia 10.2 LGI1 CNTNAP2
9 dissociative amnesia 10.2 LGI1 CNTNAP2
10 myelitis 10.2 DPYSL5 AMPH
11 visual epilepsy 10.2
12 gallbladder small cell carcinoma 10.2 LGI1 CNTNAP2
13 drug psychosis 10.2 LGI1 CNTNAP2
14 akinetic mutism 10.2 PNMA2 LGI1
15 autoimmune disease 10.1
16 drug-induced mental disorder 10.1 LGI1 CNTNAP2
17 partial motor epilepsy 10.1 LGI1 CNTNAP2
18 vascular myelopathy 10.1 DPYSL5 AMPH
19 cerebellopontine angle meningioma 10.1 DPYSL5 AMPH
20 echolalia 10.1 LGI1 CNTNAP2
21 epilepsy, familial temporal lobe, 1 10.1 LGI1 CNTNAP2
22 fallopian tube serous adenocarcinoma 10.1 PNMA2 AMPH
23 speech disorder 10.1 LGI1 GAD2 CNTNAP2
24 ehlers-danlos syndrome, arthrochalasia type, 1 10.1
25 status epilepticus 10.1
26 encephalopathy 10.1
27 autoimmune limbic encephalitis 10.1
28 amnestic disorder 10.1 LGI1 CNTNAP2
29 bilateral hypoactive labyrinth 10.0 SOX1 AMPH
30 demyelinating polyneuropathy 9.9 LGI1 IGLON5 CNTNAP2
31 glioma susceptibility 1 9.9
32 rapidly involuting congenital hemangioma 9.9
33 reye syndrome 9.9
34 focal epilepsy 9.9
35 glioma 9.9
36 tremor 9.9
37 glial tumor 9.9
38 recurrent hypersomnia 9.9 PNMA2 LGI1 IGLON5
39 kleine-levin hibernation syndrome 9.9 PNMA2 LGI1 IGLON5
40 transverse myelitis 9.9 LGI1 DPYSL5 CNTNAP2 AMPH
41 neurosarcoidosis 9.9 PNMA2 LGI1 DPYSL5 AMPH
42 cerebellar disease 9.8 GAD2 DPYSL5 CNTNAP2 AMPH
43 megacystis-microcolon-intestinal hypoperistalsis syndrome 1 9.8 LMOD2 LMOD1
44 gummatous syphilis 9.8 PNMA2 LGI1 GAD2 CNTNAP2 AMPH
45 meningovascular neurosyphilis 9.8 PNMA2 LGI1 GAD2 CNTNAP2 AMPH
46 miller fisher syndrome 9.8 PNMA2 LGI1 GAD2 CNTNAP2 AMPH
47 polyradiculopathy 9.8 LGI1 GAD2 DPYSL5 CNTNAP2 AMPH
48 systemic lupus erythematosus 9.8
49 systemic lupus erythematosus 1 9.8
50 systemic lupus erythematosus 13 9.8

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



Diseases related to Autoimmune Epilepsy

Symptoms & Phenotypes for Autoimmune Epilepsy

MGI Mouse Phenotypes related to Autoimmune Epilepsy:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.56 AMPH CNTNAP2 DNER DPP6 DPYSL5 GAD2
2 behavior/neurological MP:0005386 9.28 AMPH APEX2 CNTNAP2 DNER DPYSL5 GAD2

Drugs & Therapeutics for Autoimmune Epilepsy

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
2
Tannic acid Approved Phase 3 1401-55-4 16129878 16129778
3 Immunologic Factors Phase 3
4 Immunoglobulins, Intravenous Phase 3
5 Immunoglobulins Phase 3
6 Pharmaceutical Solutions Phase 3
7 Anticonvulsants Phase 3
8 Antibodies Phase 3
9 gamma-Globulins Phase 3
10 Rho(D) Immune Globulin Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Randomized Double Blind Placebo Controlled Study of Intravenous Immunoglobulin (IVIG) Patients With Voltage Gated Potassium Channel Complex (VGKC) Antibody Associated Autoimmune Epilepsy Terminated NCT02697292 Phase 3 Intravenous Immunoglobulin;Placebos;Normal Saline
2 Managing Multiple Seizure Types With Wearable Devices Enrolling by invitation NCT05627661

Search NIH Clinical Center for Autoimmune Epilepsy

Genetic Tests for Autoimmune Epilepsy

Anatomical Context for Autoimmune Epilepsy

Organs/tissues related to Autoimmune Epilepsy:

MalaCards : Temporal Lobe, Brain, T Cells, Amygdala, Thyroid, Endothelial

Publications for Autoimmune Epilepsy

Articles related to Autoimmune Epilepsy:

(show top 50) (show all 133)
# Title Authors PMID Year
1
Performance of a pediatric adaptation of the RITE2 and APE2 scores in children with autoimmune epilepsy: P-RITE2 and P-APE2 scores. 62
36244182 2022
2
Seizure underreporting in LGI1 and CASPR2 antibody encephalitis. 62
35735209 2022
3
Do the neurologists recognize autoimmune epilepsy well enough? What is the effect of the pandemic on this matter? 62
35381878 2022
4
Epilepsy, Immunity and Neuropsychiatric Disorders. 62
35794773 2022
5
Infodemiology of autoimmune encephalitis, autoimmune seizures, and autoimmune epilepsy: An analysis of online search behavior using Google Trends. 62
35623205 2022
6
Merging Art with Science: A Detection Score for Autoimmune Epilepsy. 62
36474826 2022
7
When should we test patients with epilepsy for autoimmune antibodies? Results from a French retrospective single center study. 62
34816332 2022
8
Stiff-person Syndrome and GAD Antibody-spectrum Disorders: GABAergic Neuronal Excitability, Immunopathogenesis and Update on Antibody Therapies. 62
35084720 2022
9
Elevated serum free IL-18 in neuropsychiatric systemic lupus erythematosus patients with seizure disorders. 62
35042378 2022
10
Intractable Seizures and Limbic Encephalitis, Unaccounted Complications of Type 1 Diabetes Autoimmunity. 62
35128296 2022
11
Interesting Manifestation of Autoimmune Encephalitis on FDG PET Scan. 62
34392290 2022
12
Favorable response to classic ketogenic diet in a child with anti-GAD 65 antibody mediated super refractory status epilepticus. 62
35789965 2022
13
Diagnostic value of an algorithm for autoimmune epilepsy in a retrospective cohort. 62
36188368 2022
14
The value of immunotherapy in children with initial short-term frequent seizures. 62
36158962 2022
15
Autoimmune epilepsy due to N-methyl-D-aspartate receptor antibodies in a child: a case report. 62
34666812 2021
16
Macrophage migration inhibitory factor in Nodding syndrome. 62
34662363 2021
17
Update on Intravenous Immunoglobulin in Neurology: Modulating Neuro-autoimmunity, Evolving Factors on Efficacy and Dosing and Challenges on Stopping Chronic IVIg Therapy. 62
34766257 2021
18
A case of repetitive seizures following immune checkpoint inhibitor therapy as a feature of autoimmune encephalitis. 62
34519645 2021
19
A case of Anti-LGi1 antibody positive autoimmune epilepsy following deep brain stimulator implantation for essential tremor. 62
33567372 2021
20
Orbitofrontal syndrome and "goosebumps"-A new manifestation of autoimmune epilepsy in anti-LGI1 encephalitis. 62
33556776 2021
21
Seizures in steroid-responsive encephalopathy. 62
33219869 2021
22
Inflammation, ictogenesis, and epileptogenesis: An exploration through human disease. 62
33316111 2021
23
Metabolic scoring in autoimmune epilepsy-Should APE scores be modified? 62
32939762 2021
24
Autoimmune Epilepsy - Novel Multidisciplinary Analysis, Discoveries and Insights. 62
35095841 2021
25
F-18 Fluorodeoxyglucose Positron Emission Tomography Metabolic Phenotype in Myelin Oligodendrocyte Glycoprotein Antibody-Positive Autoimmune Epilepsy. 62
34040310 2021
26
CSF and Serum Biomarkers of Cerebral Damage in Autoimmune Epilepsy. 62
33935944 2021
27
GAD antibody-spectrum disorders: progress in clinical phenotypes, immunopathogenesis and therapeutic interventions. 62
33854562 2021
28
Genetic or Autoimmune: POLG-Related Epilepsy Initially Treated as an Autoimmune Encephalitis, a Case Report. 62
33868564 2021
29
Immunologic Treatments of Seizures and Status Epilepticus. 62
33176369 2020
30
Basics of modern epilepsy classification and terminology. 62
33153903 2020
31
Epileptic seizures of suspected autoimmune origin: a multicentre retrospective study. 62
32859745 2020
32
Autoimmune Epilepsy in Children: Unraveling the Mystery. 62
32920307 2020
33
Clinical Approach to Autoimmune Epilepsy. 62
33029957 2020
34
Anti-Hu-related epilepsy diagnosed after surgical management. 62
32851899 2020
35
Dual-Targeted Autoimmune Sword in Fatal Epilepsy: Patient's glutamate receptor AMPA GluR3B peptide autoimmune antibodies bind, induce Reactive Oxygen Species (ROS) in, and kill both human neural cells and T cells. 62
32561150 2020
36
Protection or susceptibility to devastating childhood epilepsy: Nodding Syndrome associates with immunogenetic fingerprints in the HLA binding groove. 62
32639997 2020
37
Seizures in autoimmune encephalitis: Kindling the fire. 62
32400012 2020
38
Brain-responsive neurostimulation treatment in patients with GAD65 antibody-associated autoimmune mesial temporal lobe epilepsy. 62
32524057 2020
39
GAD-65 autoantibody associated epilepsy. 62
32436860 2020
40
Ionotropic Glutamate Receptors in Epilepsy: A Review Focusing on AMPA and NMDA Receptors. 62
32197322 2020
41
Refractory epilepsy associated with anti-ribosomal P antibodies successfully treated with topiramate. 62
31954282 2020
42
Diagnostic Value of Structural and Functional Neuroimaging in Autoimmune Epilepsy. 62
33380947 2020
43
HMGB1/CXCL12-Mediated Immunity and Th17 Cells Might Underlie Highly Suspected Autoimmune Epilepsy in Elderly Individuals. 62
32547032 2020
44
Continuous Visual Focal Status Epilepticus as the Primary Presentation of NMDA-R and GAD65-R Autoimmune Epilepsy. 62
33324338 2020
45
Neuronal antibodies in adult patients with new-onset seizures: A prospective study. 62
31588654 2019
46
Efficacy and Tolerability of Intravenous Immunoglobulin and Subcutaneous Immunoglobulin in Neurologic Diseases. 62
31445679 2019
47
Novel clinical features of glycine receptor antibody syndrome: A series of 17 cases. 62
31355325 2019
48
Putting a Band-Aid on a Broken Leg: Antiseizure Medications Are Inferior to Immune Therapies in Autoimmune Epilepsy. 62
31436112 2019
49
[Association between admission diagnosis and immunotherapy outcome in patients with autoimmune epilepsy]. 62
31570675 2019
50
Intracranial EEG recording in autoimmune epilepsy dataset. 62
31453277 2019

Variations for Autoimmune Epilepsy

Expression for Autoimmune Epilepsy

Search GEO for disease gene expression data for Autoimmune Epilepsy.

Pathways for Autoimmune Epilepsy

GO Terms for Autoimmune Epilepsy

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

# Name GO ID Score Top Affiliating Genes
1 striated muscle thin filament GO:0005865 8.92 LMOD2 LMOD1

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

# Name GO ID Score Top Affiliating Genes
1 myofibril assembly GO:0030239 9.46 LMOD2 LMOD1
2 actin nucleation GO:0045010 9.26 LMOD2 LMOD1
3 pointed-end actin filament capping GO:0051694 8.92 LMOD2 LMOD1

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

# Name GO ID Score Top Affiliating Genes
1 tropomyosin binding GO:0005523 8.92 LMOD2 LMOD1

Sources for Autoimmune Epilepsy

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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