ICCA
MCID: CNV018
MIFTS: 41

Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis (ICCA) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Aliases & Descriptions for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis:

Name: Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis 54 66 13
Icca 50 24 66
Infantile Convulsions and Paroxysmal Choreoathetosis, Familial 50 69
Familial Infantile Convulsions and Paroxysmal Choreoathetosis 66 29
Icca Syndrome 50 56
Pkd/ic 24 66
Icca Syndrome Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions 66
Convulsions, Infantile, with Paroxysmal Choreoathetosis, Familial 50
Familial Infantile Convulsions with Paroxysmal Choreoathetosis 24
Paroxysmal Kinesigenic Dyskinesia and Infantile Convulsions 56
Infantile Convulsions and Choreoathetosis 56
Dyskinetic Syndrome 69
Dyskinesias 42

Characteristics:

Orphanet epidemiological data:

56
infantile convulsions and choreoathetosis
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

HPO:

32
convulsions, familial infantile, with paroxysmal choreoathetosis:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 602066
Orphanet 56 ORPHA31709
ICD10 via Orphanet 34 G40.4
MedGen 40 C1865926

Summaries for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

OMIM : 54 Benign familial infantile convulsions (BFIC; see 601764) is an autosomal dominant disorder characterized by afebrile... (602066) more...

MalaCards based summary : Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis, also known as icca, is related to tardive dyskinesia and primary ciliary dyskinesia, and has symptoms including ataxia, stereotypy and migraine. An important gene associated with Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis is PRRT2 (Proline Rich Transmembrane Protein 2). The drugs Aripiprazole and Acetylcholine have been mentioned in the context of this disorder.

UniProtKB/Swiss-Prot : 66 Convulsions, familial infantile, with paroxysmal choreoathetosis: A syndrome characterized by clinical features of benign familial infantile seizures and episodic kinesigenic dyskinesia. Benign familial infantile seizures is a disorder characterized by afebrile seizures occurring during the first year of life, without neurologic sequelae. Paroxysmal choreoathetosis is a disorder of involuntary movements characterized by attacks that occur spontaneously or are induced by a variety of stimuli.

Wikipedia : 71 Infantile convulsions and choreoathetosis (ICCA) syndrome is a neurological genetic disorder with an... more...

Related Diseases for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Diseases related to Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 52)
id Related Disease Score Top Affiliating Genes
1 tardive dyskinesia 12.3
2 primary ciliary dyskinesia 12.2
3 adcy5-related dyskinesia 12.1
4 familial paroxysmal kinesigenic dyskinesia 12.1
5 biliary dyskinesia 12.1
6 drug induced dyskinesia 12.1
7 familial paroxysmal nonkinesigenic dyskinesia 12.1
8 ciliary dyskinesia, primary, 1, with or without situs inversus 12.1
9 paroxysmal nonkinesigenic dyskinesia 12.0
10 ciliary dyskinesia, primary, 3, with or without situs inversus 12.0
11 ciliary dyskinesia, primary, 9, with or without situs inversus 12.0
12 ciliary dyskinesia, primary, 7, with or without situs inversus 12.0
13 generalized epilepsy and paroxysmal dyskinesia 12.0
14 ciliary dyskinesia, primary, 14 12.0
15 ciliary dyskinesia, primary, 5 12.0
16 ciliary dyskinesia, primary, 17 12.0
17 ciliary dyskinesia, primary, 15 12.0
18 ciliary dyskinesia, primary, 19 12.0
19 ciliary dyskinesia, primary, 20 12.0
20 ciliary dyskinesia, primary, 16 12.0
21 ciliary dyskinesia, primary, 28 12.0
22 ciliary dyskinesia, primary, 23 12.0
23 ciliary dyskinesia, primary, 26 12.0
24 ciliary dyskinesia, primary, 27 12.0
25 ciliary dyskinesia, primary, 21 12.0
26 ciliary dyskinesia, primary, 25 12.0
27 ciliary dyskinesia, primary, 12 12.0
28 ciliary dyskinesia, primary, 11 12.0
29 ciliary dyskinesia, primary, 13 12.0
30 ciliary dyskinesia, primary, 18 12.0
31 ciliary dyskinesia, primary, 2 12.0
32 ciliary dyskinesia, primary, 10 12.0
33 ciliary dyskinesia, primary, 29 12.0
34 ciliary dyskinesia, primary, 30 12.0
35 ciliary dyskinesia, primary, 22 12.0
36 primary ciliary dyskinesia 35 12.0
37 ciliary dyskinesia, primary, 32 12.0
38 ciliary dyskinesia, primary, 6 12.0
39 ciliary dyskinesia, primary, 24 12.0
40 primary ciliary dyskinesia 33 11.9
41 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 11.9
42 dyskinesia, familial, with facial myokymia 11.9
43 primary ciliary dyskinesia 34 11.9
44 ciliary dyskinesia, primary, 8 11.9
45 ciliary dyskinesia, primary, 4 11.9
46 cholangiocarcinoma, susceptibility to 10.8
47 episodic kinesigenic dyskinesia 1 10.8
48 seizures, benign familial infantile, 2 10.8
49 paroxysmal choreoathetosis 9.9
50 gaba aminotransferase deficiency 9.8 PRRT2 SCN8A

Graphical network of the top 20 diseases related to Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis:



Diseases related to Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Symptoms & Phenotypes for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Symptoms by clinical synopsis from OMIM:

602066

Clinical features from OMIM:

602066

Human phenotypes related to Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis:

56 32 (show all 11)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Frequent (79-30%) HP:0001251
2 stereotypy 56 32 Occasional (29-5%) HP:0000733
3 migraine 56 32 Frequent (79-30%) HP:0002076
4 generalized seizures 56 32 Very frequent (99-80%) HP:0002197
5 focal seizures 56 32 Very frequent (99-80%) HP:0007359
6 normal interictal eeg 56 32 Very frequent (99-80%) HP:0002372
7 paroxysmal choreoathetosis 56 32 Very frequent (99-80%) HP:0007098
8 paroxysmal dyskinesia 56 32 Very frequent (99-80%) HP:0007166
9 anxiety 32 HP:0000739
10 paroxysmal dystonia 32 HP:0002268
11 focal seizures, afebril 32 HP:0040168

UMLS symptoms related to Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis:


ataxia, athetosis, dystonia, meningism, myoclonus, pain, paresis, reflex, abnormal, seizures, tremor, vertigo, muscle fibrillation, asterixis, bradykinesia, asynergia, synkinesis, dyskinesia neonatal, involuntary movements, abnormal head movements, abnormal coordination, neurobehavioral manifestations, myokymia, staggering gait, neuromuscular manifestations, symptoms, dystonia, paroxysmal, seizures, focal

Drugs & Therapeutics for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Drugs for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 887)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 129722-12-9 60795
2
Acetylcholine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-84-3 187
3
Dopamine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 51-61-6, 62-31-7 681
4
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 106266-06-2 5073
5
Zolpidem Approved Phase 4,Phase 3,Phase 2 82626-48-0 5732
6 Zotepine Approved Phase 4 26615-21-4
7
Hydroxocobalamin Approved Phase 4,Phase 3 13422-51-0 11953898 5460373 44475014
8
Etomidate Approved Phase 4 33125-97-2 36339 667484
9
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 437-38-7 3345
10
Lidocaine Approved, Vet_approved Phase 4,Phase 3,Phase 2 137-58-6 3676
11
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2 59467-70-8 4192
12
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
13
Memantine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 19982-08-2 4054
14
Gabapentin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 60142-96-3 3446
15
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 2,Phase 3 76631-46-4, 113775-47-6 68602 5311068 56032
16
Remifentanil Approved Phase 4 132875-61-7 60815
17
Sevoflurane Approved, Vet_approved Phase 4,Phase 3,Phase 2 28523-86-6 5206
18
Sufentanil Approved, Investigational Phase 4,Phase 3 56030-54-7 41693
19
Bupivacaine Approved, Investigational Phase 4,Phase 3,Phase 2,Early Phase 1 2180-92-9, 38396-39-3 2474
20
Magnesium Sulfate Approved, Vet_approved Phase 4 7487-88-9 24083
21
Desflurane Approved Phase 4 57041-67-5 42113
22
Clonidine Approved Phase 4,Phase 3,Phase 2,Phase 1 4205-90-7 2803
23
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 1 50-28-2 5757 53477783
24
Benzocaine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 1994-09-7, 94-09-7 2337
25
Methylphenidate Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 113-45-1 4158
26
Guanfacine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 29110-47-2 3519
27
Norepinephrine Approved Phase 4,Phase 3,Phase 2,Phase 1 51-41-2 439260
28
Dextroamphetamine Approved, Illicit Phase 4,Phase 3,Phase 2,Phase 1 51-64-9 5826
29
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 2 99-66-1 3121
30
Fluoxetine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 54910-89-3 3386
31
Lamotrigine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 84057-84-1 3878
32
Olanzapine Approved, Investigational Phase 4,Phase 3,Phase 1 132539-06-1 4585
33
Sertraline Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 79617-96-2 68617
34
Topiramate Approved Phase 4,Phase 3,Phase 2 97240-79-4 5284627
35
Ziprasidone Approved Phase 4,Phase 3,Phase 2 146939-27-7 60854
36
Haloperidol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 52-86-8 3559
37
Lorazepam Approved Phase 4,Phase 3,Phase 2,Phase 1 846-49-1 3958
38
Donepezil Approved Phase 4,Phase 3,Phase 2,Phase 1 120014-06-4 3152
39
Bromocriptine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 25614-03-3 31101
40
Pramipexole Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 104632-26-0 59868 119570
41
Amantadine Approved Phase 4,Phase 3,Phase 2,Phase 1 768-94-5 2130
42
Ropinirole Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 91374-20-8, 91374-21-9 5095 497540
43
Meperidine Approved Phase 4 57-42-1 4058
44
Amitriptyline Approved Phase 4,Phase 2,Phase 3 50-48-6 2160
45
Citalopram Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 59729-33-8 2771
46
Nortriptyline Approved Phase 4,Phase 3 72-69-5 4543
47
Paroxetine Approved, Investigational Phase 4,Phase 3,Phase 2 61869-08-7 43815
48
Perphenazine Approved Phase 4,Phase 3,Phase 2 58-39-9 4748
49
Trimipramine Approved Phase 4,Phase 3 739-71-9 5584 4055
50
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174

Interventional clinical trials:

(show top 50) (show all 3325)
id Name Status NCT ID Phase
1 Aripiprazole for Neuroleptic-Induced Tardive Dyskinesia Unknown status NCT00837707 Phase 4
2 The Monitor of Serum Prolactin Level in a 3 Months Aripiprazole Trial Unknown status NCT00468533 Phase 4
3 Controlled Trial of Deep Brain Stimulation in Early Patients With Parkinson's Disease Unknown status NCT00354133 Phase 4
4 The Use of Botox in Advanced Parkinson's Patients Experiencing Pain Unknown status NCT02472210 Phase 4
5 Risperidone and Zotepine in the Treatment of Delirium Unknown status NCT00622011 Phase 4
6 Intracoronary Administration of Levosimendan in Cardiac Surgery Patients Unknown status NCT01500785 Phase 4
7 Effect of Pre-injection of Lidocaine on Myoclonus Induced by Induction With Etomidate in Elderly Patients During General Anesthesia Unknown status NCT02141737 Phase 4
8 Memantine for Agitation in Dementia Unknown status NCT00371059 Phase 4
9 Study of Memantine to Treat Huntington's Disease Unknown status NCT00652457 Phase 4
10 Effects of Gabapentin Enacarbil on Arousals, Heart Rate, Blood Pressure and PLMs in Restless Legs Syndrome Unknown status NCT02424695 Phase 4
11 Small Doses of Dexmedetomidine for Emergence Agitation Unknown status NCT02169843 Phase 4
12 Addition of Magnesium Sulfate to Caudal to Prevent Postoperative Emergence Agitation. Unknown status NCT02164773 Phase 4
13 Effect of Deksmedetomidine and Remifentanil in Extubation Agitation Unknown status NCT02104297 Phase 4
14 A RCT of Compound Lidocaine Cream to Prevent Postoperative Agitation in Patients With Endotracheal Intubation for GA Unknown status NCT02017392 Phase 4
15 The Impact of Botulinum Toxin Treatment in Quality of Life of Cervical Dystonia Patients Unknown status NCT01664013 Phase 4
16 The Effect of Dexmedetomidine on Emergence Agitation in Children Undergoing a Surgery Under Desflurane Anesthesia Unknown status NCT01578161 Phase 4
17 The Effect of Intramuscular Dexmedetomidine on Emergence Agitation in Children Undergoing With or Without Tube Insertion Under General Anesthesia Unknown status NCT01535287 Phase 4
18 ED50 of Dexmedetomidine to Prevent Emergence Agitation in Children Unknown status NCT01374737 Phase 4
19 Efficacy and Safety of DBS of the GPi in Patients With Primary Generalized and Segmental Dystonia Unknown status NCT00142259 Phase 4
20 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4
21 Effect of Rotigotine Patch Treatment on Cardiovascular Markers in Idiopathic Restless Legs Syndrome Unknown status NCT01823770 Phase 4
22 Lisdexamfetamine's Effect In ADHD in the Brain and Cognition Unknown status NCT02170298 Phase 4
23 Identify Peripheral Biomarkers of Symptomatology, Neurocognitive Functions, and Medication Response in ADHD Unknown status NCT02074228 Phase 4
24 Neurobiological Basis of Response to Guanfacine Extended Release in Children and Adolescents With ADHD Unknown status NCT01709695 Phase 4
25 Associated Genes With Atomoxetine Response in Attention Deficit Hyperactivity Disorder (ADHD) Unknown status NCT01339286 Phase 4
26 Methylphenidate Treatment Response Study of Genetic Polymorphism in Attention Deficit Hyperactivity Disorder(ADHD) Unknown status NCT00862108 Phase 4
27 Long Acting Stimulant Treatment of Attention Deficit Hyperactivity Disorder (ADHD) in Young Children Unknown status NCT00754208 Phase 4
28 Comparing Treatment With Melatonin to Treatment With Stimulants (Methylphenidate) in Children With Attention Deficit Hyperactivity Disorder and Sleep Difficulties Unknown status NCT01393574 Phase 4
29 Event-related Potentials in Management of Children With Attention-deficit/Hyperactivity Disorder Unknown status NCT01130467 Phase 4
30 Effectiveness of Combined Medication Treatment for Aggression in Children With Attention Deficit With Hyperactivity Disorder (The SPICY Study) Unknown status NCT00794625 Phase 4
31 Impact of Attention Deficit/Hyperactivity Disorder and Substance Use Disorder on Motorcycle Traffic Accidents Unknown status NCT00536419 Phase 4
32 Juvenile Bipolar Disorder Outpatient Program Unknown status NCT01000402 Phase 4
33 Study of Clonidine on Sleep Architecture in Children With Tourette's Syndrome (TS) and Comorbid ADHD Unknown status NCT00152750 Phase 4
34 Efficacy and Safety of Meditoxin® Injection for Cervical Dystonia in Adults With Cerebral Palsy Unknown status NCT01860196 Phase 4
35 Magnesium Sulphate and Sevoflurane Induced Emergence Agitation in Children Unknown status NCT01743144 Phase 4
36 Ziprasidone vs Standard Therapy for Agitated Patients in the ED Unknown status NCT00786318 Phase 4
37 Effect of Memantine Oral Pump on Language in Patients With Probable Alzheimer's Disease Unknown status NCT01849042 Phase 4
38 Pramipexole and Bromocriptine on Nonmotor Symptoms of Early Parkinson's Disease Unknown status NCT01673724 Phase 4
39 Memantine for Post-Operative Pain Control Unknown status NCT01041313 Phase 4
40 Donepezil and Memantine in Moderate to Severe Alzheimer's Disease Unknown status NCT00866060 Phase 4
41 Amantadine for Treatment of Symptoms of the Post-Traumatic Confusional State Unknown status NCT00693121 Phase 4
42 The Therapeutic Effect of Bromocriptin in Patients With Primary Aldosteronism Unknown status NCT00451672 Phase 4
43 Memantine and Constraint-Induced Language Therapy in Chronic Poststroke Aphasia:A Randomized Controlled Trial Unknown status NCT00196703 Phase 4
44 Study to Observe the Effect of Mirapex ER® Once-daily (QD) Versus Twice-daily (BID) Unknown status NCT01515774 Phase 4
45 Birth Ball Versus Meperidine and Haloperidol Injection for Pain Relief During First Stage of Labour Unknown status NCT02493192 Phase 4
46 Optimizing Antidepressant Treatment by Genotype-dependent Adjustment of Medication According to the ABCB1 Gene Unknown status NCT02237937 Phase 4
47 Effect of Gabapentin on Pain of the Second Cataract Surgery Unknown status NCT02127853 Phase 4
48 Optimization of Procedural Sedation Protocol Used for Dental Care Delivery in People With Mental Disability Unknown status NCT02078336 Phase 4
49 Algorithm Guided Treatment Strategies for Major Depressive Disorder Unknown status NCT01764867 Phase 4
50 Remission of ICD by Switching Dopamine Agonist to Levodopa/Carbidopa Unknown status NCT01683253 Phase 4

Search NIH Clinical Center for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: dyskinesias

Genetic Tests for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Genetic tests related to Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis:

id Genetic test Affiliating Genes
1 Infantile Convulsions and Paroxysmal Choreoathetosis, Familial 29
2 Familial Infantile Convulsions with Paroxysmal Choreoathetosis 24 PRRT2

Anatomical Context for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Publications for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Variations for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

UniProtKB/Swiss-Prot genetic disease variations for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis:

66
id Symbol AA change Variation ID SNP ID
1 PRRT2 p.Ser317Asn VAR_067327 rs387907125

ClinVar genetic disease variations for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PRRT2 PRRT2, 1-BP DUP, 649C duplication Pathogenic
2 PRRT2 NM_145239.2(PRRT2): c.629dupC (p.Ala211Serfs) duplication Pathogenic rs730882067 GRCh38 Chromosome 16, 29813683: 29813683
3 PRRT2 NM_145239.2(PRRT2): c.950G> A (p.Ser317Asn) single nucleotide variant Pathogenic rs387907125 GRCh37 Chromosome 16, 29825724: 29825724
4 PRRT2 NM_145239.2(PRRT2): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs387907126 GRCh37 Chromosome 16, 29825093: 29825093
5 PRRT2 NM_145239.2(PRRT2): c.516dupT (p.Glu173Terfs) duplication Pathogenic rs730882068 GRCh38 Chromosome 16, 29813570: 29813570
6 PRRT2 NM_145239.2(PRRT2): c.487C> T (p.Gln163Ter) single nucleotide variant Pathogenic rs387907127 GRCh37 Chromosome 16, 29824862: 29824862
7 PRRT2 NM_145239.2(PRRT2): c.562C> T (p.Gln188Ter) single nucleotide variant Pathogenic rs397514578 GRCh37 Chromosome 16, 29824937: 29824937
8 PRRT2 NM_145239.2(PRRT2): c.649dupC (p.Arg217Profs) duplication Pathogenic rs587778771 GRCh37 Chromosome 16, 29825024: 29825024

Expression for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Search GEO for disease gene expression data for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis.

Pathways for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

GO Terms for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

Sources for Convulsions, Familial Infantile, with Paroxysmal Choreoathetosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
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30 HGMD
31 HMDB
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34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
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42 MeSH
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48 NDF-RT
51 NINDS
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