MCID: RFL002
MIFTS: 40

Reflex Epilepsy

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Reflex Epilepsy

MalaCards integrated aliases for Reflex Epilepsy:

Name: Reflex Epilepsy 12 58 15 17
Epilepsy, Reflex 44 70
Epilepsy, Sensory-Induced 12
Epilepsy Reflex 54

Characteristics:

Orphanet epidemiological data:

58
reflex epilepsy
Age of onset: Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:2548
MeSH 44 D020195
NCIt 50 C85041
SNOMED-CT 67 79745005
MESH via Orphanet 45 D020195
ICD10 via Orphanet 33 G40.8
UMLS via Orphanet 71 C0270857
Orphanet 58 ORPHA310
UMLS 70 C0270857

Summaries for Reflex Epilepsy

Disease Ontology : 12 A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity.

MalaCards based summary : Reflex Epilepsy, also known as epilepsy, reflex, is related to photosensitive epilepsy and seizure disorder. An important gene associated with Reflex Epilepsy is SCNM1 (Sodium Channel Modifier 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Acetylcholine Binding And Downstream Events. The drugs Valproic acid and Psychotropic Drugs have been mentioned in the context of this disorder. Affiliated tissues include cortex, brain and temporal lobe, and related phenotypes are behavior/neurological and nervous system

Related Diseases for Reflex Epilepsy

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

(show top 50) (show all 93)
# Related Disease Score Top Affiliating Genes
1 photosensitive epilepsy 31.5 SV2A SCN2A SCN1A GABRG2
2 seizure disorder 30.3 SCN2A SCN1A GABRG2 CHRNA4 CHRNA2
3 myoclonic epilepsy of infancy 29.9 SCN1A GABRG2
4 epilepsy 29.8 SV2A SCN2A SCN1A LGI1 GABRG2 CHRNB2
5 lennox-gastaut syndrome 29.2 SV2A SCN2A SCN1A GABRG2 CHRNB2
6 early myoclonic encephalopathy 28.8 SV2A SCN2A SCN1A LGI1 GABRG2 CHRNA4
7 focal epilepsy 28.6 SCN2A SCN1A LGI1 GABRG2 CHRNB2 CHRNA4
8 genetic reflex epilepsy 11.2
9 eating reflex epilepsy 11.1
10 epilepsy, reading 11.1
11 hot water reflex epilepsy 11.1
12 myoclonus 10.3
13 epilepsy, nocturnal frontal lobe, 2 10.2 CHRNB2 CHRNA4
14 epilepsy, nocturnal frontal lobe, 3 10.2 CHRNB2 CHRNA4
15 audiogenic seizures 10.2
16 genetic epilepsy with febrile seizures plus 10.2 SCN2A SCN1A
17 verbal auditory agnosia 10.2 SCNM1 GABRG2
18 developmental and epileptic encephalopathy 13 10.2 SCN2A SCN1A
19 febrile seizures, familial, 6 10.1 SCN1A GABRG2
20 low-grade astrocytoma 10.1 SCN2A SCN1A
21 febrile seizures, familial, 11 10.1 SCN1A GABRG2
22 epilepsy, familial temporal lobe, 5 10.1 SCN1A GABRG2
23 auditory agnosia 10.1 LGI1 GABRG2
24 trigeminal nerve disease 10.1 SCN2A SCN1A
25 febrile seizures, familial, 8 10.1 SCN1A GABRG2
26 febrile seizures, familial, 4 10.1 SCN1A GABRG2
27 infancy electroclinical syndrome 10.1 SCN2A SCN1A
28 generalized epilepsy with febrile seizures plus, type 2 10.1 SCN1A GABRG2
29 epilepsy, hot water, 1 10.0
30 epilepsy, familial temporal lobe, 1 10.0 LGI1 CHRNB2 CHRNA2
31 developmental and epileptic encephalopathy 14 10.0 SCN2A SCN1A CHRNA4
32 tobacco addiction 10.0 CHRNB2 CHRNA4 CHRNA2
33 generalized epilepsy with febrile seizures plus, type 7 10.0 SCN1A GABRG2
34 hyperkalemic periodic paralysis 10.0 SCN2A SCN1A
35 partial motor epilepsy 10.0 SCN2A SCN1A LGI1
36 sturge-weber syndrome 10.0 SCN1A GABRG2
37 febrile seizures, familial, 5 10.0 SCN2A SCN1A GABRG2
38 febrile seizures, familial, 2 10.0 SCN2A SCN1A GABRG2
39 landau-kleffner syndrome 10.0 SCN2A SCN1A GABRG2
40 glioma susceptibility 1 9.9
41 malignant astrocytoma 9.9
42 hyperglycemia 9.9
43 athetosis 9.9
44 hypotonia 9.9
45 epilepsy with generalized tonic-clonic seizures 9.9 SCN2A SCN1A GABRG2
46 episodic ataxia 9.9 SCN2A SCN1A LGI1
47 migraine, familial hemiplegic, 3 9.9 SCN2A SCN1A
48 juvenile absence epilepsy 9.8 SCN1A GABRG2 CHRNB2 CHRNA4
49 febrile seizures 9.8 SCN2A SCN1A GABRG2 CHRNB2
50 malignant migrating partial seizures of infancy 9.8 SCN2A SCN1A

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



Diseases related to Reflex Epilepsy

Symptoms & Phenotypes for Reflex Epilepsy

MGI Mouse Phenotypes related to Reflex Epilepsy:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.85 CHRNA4 CHRNB2 GABRG2 LGI1 PRDM4 SCN1A
2 nervous system MP:0003631 9.61 CHRNA2 CHRNA4 CHRNB2 GABRG2 LGI1 SCN1A
3 normal MP:0002873 9.17 CHRNA2 CHRNB2 GABRG2 PRDM4 SCN1A SCNM1

Drugs & Therapeutics for Reflex Epilepsy

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Valproic acid Approved, Investigational Phase 4 99-66-1 3121
2 Psychotropic Drugs Phase 4
3 Anticonvulsants Phase 4
4 Neurotransmitter Agents Phase 4
5
Levetiracetam Approved Phase 2, Phase 3 102767-28-2 441341
6
Brivaracetam Approved, Investigational Phase 2, Phase 3 357336-20-0 9837243
7
Fenfluramine Approved, Illicit, Investigational, Withdrawn Phase 3 458-24-2 3337
8 Pharmaceutical Solutions Phase 3
9 Serotonin Uptake Inhibitors Phase 3
10 Sunflower Phase 3
11
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
12
Lorazepam Approved Phase 2 846-49-1 3958
13
Carbamazepine Approved, Investigational Phase 2 298-46-4 2554
14 Gastrointestinal Agents Phase 2
15 Hypnotics and Sedatives Phase 2
16 Antiemetics Phase 2
17 GABA Modulators Phase 2
18 Anti-Anxiety Agents Phase 2
19 Sodium Channel Blockers Phase 2
20 Analgesics, Non-Narcotic Phase 2
21 Nootropic Agents Phase 2
22 Analgesics Phase 2
23 Diuretics, Potassium Sparing Phase 2

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Effect of Small Changes in Plasma Valproic Acid Concentration on the Photoparoxysmal Response Completed NCT00609245 Phase 4 Valproic Acid;Placebo
2 Does BRV Have a Faster Onset Time and Greater Effect Than LEV in Epilepsy Patients?: A Prospective, Randomized, Crossover, Double-blind, Controlled Intravenous Study Using the PPR as a Pharmacodynamic Efficacy Endpoint Completed NCT03580707 Phase 2, Phase 3 BRV vs LEV in randomized double blinded, crossover fashion
3 An Open-Label Treatment of ZX008 (Fenfluramine Hydrochloride) in Pediatric and Adult Epilepsy Patients (Ages 4-25) With Sunflower Syndrome. Active, not recruiting NCT03790137 Phase 3 Fenfluramine Hydrochloride
4 A Double Blind, Randomized, Cross- Over Study Examining Efficacy Of Pf-06372865 In A Photosensitivity Epilepsy Study Using Lorazepam As A Positive Control Completed NCT02564029 Phase 2 PF-06372865;Placebo;Lorazepam
5 A Study of the Effects of JNJ-26489112 on the Photic Induced Paroxysmal Electroencephalogram Response in Patients With Photosensitive Epilepsy Completed NCT00579384 Phase 2 JNJ-26489112;Placebo
6 A Phase 2a, Multi-center, Single-blind, Within-subject, Placebo-controlled Study to Assess the Pharmacodynamics of ACT-709478 in Subjects With Photosensitive Epilepsy Completed NCT03239691 Phase 2 ACT-709478 for oral use;Placebo
7 A Multicenter, Single-blind, Within-subject, Placebo-controlled Proof of Concept Study to Assess the Effect of Single Oral Doses of BGG492 on the Photoparoxysmal EEG Response in Patients With Photosensitive Epilepsy Completed NCT00784212 Phase 2 BGG492;BGG492;Placebo
8 Assessment of Marketed AEDs in the Human Photosensitivity Proof of Concept Trial Completed NCT00894010 Phase 2 carbamazepine 400mg;levetiracetam 1000mg
9 A Multicenter, Double-Blind, Randomized, Cross-Over Study Evaluating Pharmacodynamic Activity of E2730 in Adult Subjects With Photosensitive Epilepsy Terminated NCT03603639 Phase 2 Placebo;E2730
10 A Multicenter, Double-Blind, Randomized, Crossover, Single-Dose Study With An Open-Label Treatment Period Evaluating Pharmacodynamic Activity of E2082 in Adult Subjects With Photosensitive Epilepsy Terminated NCT03686033 Phase 2 Placebo;E2082
11 Efficacy of New Lenses in Abolishing Photoparoxysmal Responses in Paediatric Patients With Photosensitive Epilepsy (PSE) Recruiting NCT04076410

Search NIH Clinical Center for Reflex Epilepsy

Cochrane evidence based reviews: epilepsy, reflex

Genetic Tests for Reflex Epilepsy

Anatomical Context for Reflex Epilepsy

MalaCards organs/tissues related to Reflex Epilepsy:

40
Cortex, Brain, Temporal Lobe, Eye, Thyroid, Occipital Lobe, Thalamus

Publications for Reflex Epilepsy

Articles related to Reflex Epilepsy:

(show top 50) (show all 420)
# Title Authors PMID Year
1
It is not a simple startle but a sound-induced reflex epilepsy. 61
33788363 2021
2
Cognitive tasks as provocation methods in routine EEG: a multicentre field study. 61
33632670 2021
3
Eight years follow-up of a generalized epilepsy patient with eating-induced late-onset epileptic spasms and atypical absence with myoclonic jerks. 61
32792174 2021
4
Seizures triggered by eating - A rare form of reflex epilepsy: A systematic review. 61
33080481 2020
5
Reflex Epilepsy with Hot Water: Clinical and EEG Findings, Treatment, and Prognosis in Childhood. 61
32294767 2020
6
Seizures triggered by eating: a rare form of reflex epilepsy. 61
33000760 2020
7
EEG source estimation in a rare patient with cold-induced reflex epilepsy. 61
32763868 2020
8
Morphological and molecular correlates of altered hearing sensitivity in the genetically audiogenic seizure-prone hamster GASH/Sal. 61
32402894 2020
9
Epileptic seizures triggered by eating in dogs. 61
32343869 2020
10
New-onset musicogenic epilepsy after temporal lobe epilepsy surgery. 61
32301715 2020
11
Audiogenic kindling activates expression of vasopressin in the hypothalamus of Krushinsky-Molodkina rats genetically prone to reflex epilepsy. 61
32301211 2020
12
Micturition reflex epilepsy with tonic seizures - A rare semiology with insights from magnetoencephalography. 61
32062320 2020
13
Electroencephalography Findings in Bathing Reflex Epilepsy. 61
31757592 2020
14
Location-specific reflex epilepsy: a novel reflex epilepsy phenotype. 61
32671335 2020
15
Local Sleep Slow-Wave Activity Colocalizes With the Ictal Symptomatogenic Zone in a Patient With Reflex Epilepsy: A High-Density EEG Study. 61
33192347 2020
16
Non-lesional eating epilepsy with temporo-insular onset: A stereo-EEG study. 61
32642636 2020
17
Inferior Colliculus Transcriptome After Status Epilepticus in the Genetically Audiogenic Seizure-Prone Hamster GASH/Sal. 61
32528245 2020
18
Network for Therapy in Rare Epilepsies (NETRE): Lessons From the Past 15 Years. 61
33519703 2020
19
Defecation reflex seizures: a case report with long-term VEEG monitoring, neuroimaging and comprehensive epilepsy evaluation. 61
31843737 2019
20
A rare self-induced reflex epilepsy: sunflower syndrome. 61
30047041 2019
21
Eating Epilepsy in North India: Case Series and Its Management. 61
32509552 2019
22
[Clinical features of mah-jong reflex epilepsy]. 61
31570676 2019
23
Reflex seizure triggering: Learning about seizure producing systems. 61
30959422 2019
24
Affect-induced reflex seizures (AIRS): A case series based on a systematic literature review. 61
30599458 2019
25
Clinical advances in photosensitive epilepsy. 61
30076791 2019
26
Acute ischemic stroke following water immersion seizure: a case report. 61
31916729 2019
27
Localizing and lateralizing values of postictal behavioral impairments in epileptic rats. 61
30107985 2018
28
Clinical, neuroradiological, and electroencephalographic findings of reflex epilepsies 61
30384559 2018
29
Successful treatment of reflex epilepsy with praxis induction by stimulus avoidance only. 61
30037584 2018
30
Clinical and electrophysiological findings in patients with phenylketonuria and epilepsy: Reflex features. 61
29579554 2018
31
Central Regulation of Micturition and Its Association With Epilepsy. 61
29609418 2018
32
Somatosensory reflex epilepsy: simultaneous video-EEG monitoring and surface EMG. 61
29444763 2018
33
Reflex epilepsy: triggers and management strategies. 61
29403278 2018
34
Electroclinical and prognostic characteristics of epilepsy patients with photosensitivity. 61
29465899 2018
35
Hot Water Epilepsy Successfully Treated With Daily Clobazam. 61
26959518 2017
36
Seizures Induced by Exiting Water: A Unique Form of Reflex Epilepsy. 61
28859025 2017
37
Intractable ictal vomiting: a new form of reflex epilepsy? 61
28625944 2017
38
A Rare Reflex Epilepsy: Bathing-Related Epilepsy. 61
28680322 2017
39
Genetically epilepsy-prone rats (GEPRs) and DBA/2 mice: Two animal models of audiogenic reflex epilepsy for the evaluation of new generation AEDs. 61
26254980 2017
40
The genetic audiogenic seizure hamster from Salamanca: The GASH:Sal. 61
27072920 2017
41
Molecular and neurochemical substrates of the audiogenic seizure strains: The GASH:Sal model. 61
26071997 2017
42
Morphofunctional alterations in the olivocochlear efferent system of the genetic audiogenic seizure-prone hamster GASH:Sal. 61
27492627 2017
43
Somatosensory reflex seizures in a child with epilepsy related to novel SCN1A mutation. 61
27889818 2017
44
Recurrence of Epileptic Spasms as Reflex Seizures Induced by Eating: A Case Report and Literature Review. 61
28114705 2017
45
Features of stimulus-specific seizures in dogs with reflex epilepsy: 43 cases (2000-2014). 61
28001116 2017
46
Role of dietary and lifestyle modifications in reflex epilepsy based on traditional Persian medicine. 61
28088254 2017
47
Anticonvulsive Activity in Audiogenic DBA/2 Mice of 1,4-Benzodiazepines and 1,5-Benzodiazepines with Different Activities at Cerebellar Granule Cell GABAA Receptors. 61
27629561 2016
48
"Eating" epilepsy revisited- an electro-clinico-radiological study. 61
27265517 2016
49
Autonomic function in reflex and non-reflex epilepsy--an exploratory study. 61
26369268 2016
50
Rub Evoked Reflex Epilepsy in an Infant With Cerebellar Hypoplasia. 61
27268764 2016

Variations for Reflex Epilepsy

Expression for Reflex Epilepsy

Search GEO for disease gene expression data for Reflex Epilepsy.

Pathways for Reflex Epilepsy

GO Terms for Reflex Epilepsy

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

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.93 SLC6A12 SCN2A GABRG2 CHRNB2 CHRNA4 CHRNA2
2 cell junction GO:0030054 9.8 SV2A LGI1 GABRG2 CHRNB2 CHRNA4 CHRNA2
3 synapse GO:0045202 9.63 SV2A LGI1 GABRG2 CHRNB2 CHRNA4 CHRNA2
4 postsynaptic membrane GO:0045211 9.56 GABRG2 CHRNB2 CHRNA4 CHRNA2
5 voltage-gated sodium channel complex GO:0001518 9.43 SCN2A SCN1A
6 node of Ranvier GO:0033268 9.4 SCN2A SCN1A
7 sodium channel complex GO:0034706 9.37 SCN2A SCN1A
8 acetylcholine-gated channel complex GO:0005892 9.13 CHRNB2 CHRNA4 CHRNA2
9 neuron projection GO:0043005 9.1 SV2A SLC6A12 GABRG2 CHRNB2 CHRNA4 CHRNA2

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

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.88 SCN2A SCN1A GABRG2 CHRNB2 CHRNA4 CHRNA2
2 chemical synaptic transmission GO:0007268 9.72 SV2A GABRG2 CHRNB2 CHRNA4 CHRNA2
3 sodium ion transmembrane transport GO:0035725 9.67 SLC6A12 SCN2A SCN1A
4 excitatory postsynaptic potential GO:0060079 9.65 CHRNB2 CHRNA4 CHRNA2
5 response to nicotine GO:0035094 9.61 CHRNB2 CHRNA4 CHRNA2
6 B cell activation GO:0042113 9.57 CHRNB2 CHRNA4
7 neuronal action potential GO:0019228 9.56 SCN2A SCN1A
8 nervous system process GO:0050877 9.56 GABRG2 CHRNB2 CHRNA4 CHRNA2
9 regulation of dopamine secretion GO:0014059 9.55 CHRNB2 CHRNA4
10 membrane depolarization GO:0051899 9.54 CHRNB2 CHRNA4
11 synaptic transmission, cholinergic GO:0007271 9.54 CHRNB2 CHRNA4 CHRNA2
12 action potential GO:0001508 9.52 SCN1A CHRNA4
13 membrane depolarization during action potential GO:0086010 9.51 SCN2A SCN1A
14 behavioral response to nicotine GO:0035095 9.46 CHRNB2 CHRNA4
15 regulation of postsynaptic membrane potential GO:0060078 9.46 GABRG2 CHRNB2 CHRNA4 CHRNA2
16 ion transmembrane transport GO:0034220 9.43 SCN2A SCN1A GABRG2 CHRNB2 CHRNA4 CHRNA2
17 regulation of membrane potential GO:0042391 9.02 SCN1A GABRG2 CHRNB2 CHRNA4 CHRNA2

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.67 GABRG2 CHRNB2 CHRNA4 CHRNA2
2 neurotransmitter receptor activity GO:0030594 9.56 GABRG2 CHRNB2 CHRNA4 CHRNA2
3 acetylcholine-gated cation-selective channel activity GO:0022848 9.5 CHRNB2 CHRNA4 CHRNA2
4 transmitter-gated ion channel activity involved in regulation of postsynaptic membrane potential GO:1904315 9.49 GABRG2 CHRNB2
5 ligand-gated ion channel activity GO:0015276 9.48 CHRNB2 CHRNA4
6 sodium channel activity GO:0005272 9.46 SCN2A SCN1A
7 voltage-gated sodium channel activity GO:0005248 9.43 SCN2A SCN1A
8 acetylcholine binding GO:0042166 9.4 CHRNB2 CHRNA4
9 acetylcholine receptor activity GO:0015464 9.33 CHRNB2 CHRNA4 CHRNA2
10 extracellular ligand-gated ion channel activity GO:0005230 9.26 GABRG2 CHRNB2 CHRNA4 CHRNA2
11 ion channel activity GO:0005216 9.1 SCN2A SCN1A GABRG2 CHRNB2 CHRNA4 CHRNA2

Sources for Reflex 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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