MCID: MNT014
MIFTS: 22

Mental Retardation Epilepsy malady

Categories: Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Mental Retardation Epilepsy

Aliases & Descriptions for Mental Retardation Epilepsy:

Name: Mental Retardation Epilepsy 50

Classifications:



Summaries for Mental Retardation Epilepsy

MalaCards based summary : Mental Retardation Epilepsy is related to mental retardation epilepsy bulbous nose and borjeson-forssman-lehmann syndrome. An important gene associated with Mental Retardation Epilepsy is PHF6 (PHD Finger Protein 6). The drugs Acetazolamide and Carbamazepine have been mentioned in the context of this disorder. Affiliated tissues include temporal lobe.

Related Diseases for Mental Retardation Epilepsy

Graphical network of the top 20 diseases related to Mental Retardation Epilepsy:



Diseases related to Mental Retardation Epilepsy

Symptoms & Phenotypes for Mental Retardation Epilepsy

Drugs & Therapeutics for Mental Retardation Epilepsy

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

(show top 50) (show all 59)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
2
Carbamazepine Approved, Investigational Phase 4 298-46-4 2554
3
Clobazam Approved, Illicit Phase 4 22316-47-8 2789
4
Clonazepam Approved, Illicit Phase 4 1622-61-3 2802
5
Ethosuximide Approved Phase 4 77-67-8 3291
6
Felbamate Approved Phase 4 25451-15-4 3331
7
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
8
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
9
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
10
Nitrazepam Approved Phase 4 146-22-5 4506
11
Oxcarbazepine Approved Phase 4 28721-07-5 34312
12
Phenobarbital Approved Phase 4 50-06-6 4763
13
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
14
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
15
Pregabalin Approved, Illicit, Investigational Phase 4 148553-50-8 5486971
16
Tiagabine Approved Phase 4 115103-54-3 60648
17
Topiramate Approved Phase 4 97240-79-4 5284627
18
Valproic Acid Approved, Investigational Phase 4 99-66-1 3121
19
Vigabatrin Approved Phase 4 68506-86-5, 60643-86-9 5665
20
Zonisamide Approved, Investigational Phase 4 68291-97-4 5734
21 Anticonvulsants Phase 4
22 Etiracetam Phase 4
23 Methylprednisolone acetate Phase 4
24 Methylprednisolone Hemisuccinate Phase 4
25 Prednisolone acetate Phase 4
26 Prednisolone hemisuccinate Phase 4
27 Prednisolone phosphate Phase 4
28 Anti-Obesity Agents Phase 4
29 Neuroprotective Agents Phase 4
30 Protective Agents Phase 4
31 Antioxidants Phase 4
32 Antimanic Agents Phase 4
33 Central Nervous System Depressants Phase 4
34 GABA Agents Phase 4
35 Neurotransmitter Agents Phase 4
36 Psychotropic Drugs Phase 4
37 Tranquilizing Agents Phase 4
38
Everolimus Approved Phase 2, Phase 3 159351-69-6 6442177
39
Miconazole Approved, Investigational, Vet_approved Phase 2, Phase 3 22916-47-8 4189
40
Sirolimus Approved, Investigational Phase 2, Phase 3 53123-88-9 5284616 6436030 46835353
41 Anti-Bacterial Agents Phase 2, Phase 3
42 Antibiotics, Antitubercular Phase 2, Phase 3
43 Antifungal Agents Phase 2, Phase 3
44 Anti-Infective Agents Phase 2, Phase 3
45 Immunosuppressive Agents Phase 2, Phase 3
46
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
47 tannic acid Approved, Nutraceutical Phase 2
48
Aripiprazole Approved, Investigational 129722-12-9 60795
49
Dopamine Approved 51-61-6, 62-31-7 681
50
Niacin Approved, Investigational, Nutraceutical 59-67-6 938

Interventional clinical trials:

(show all 23)
id Name Status NCT ID Phase
1 Ketogenic Diet vs.Antiepileptic Drug Treatment in Drug Resistant Epilepsy Unknown status NCT00552526 Phase 4
2 Topiramate Treatment for Patients With Epilepsy and Learning Disability : A Prospective Observational Study Unknown status NCT00956696 Phase 4
3 Open Label Study of Zonisamide in the Treatment of Epilepsy in Patients With Mental Retardation Completed NCT00298818 Phase 4
4 Use of Sustained Release Antiepileptic Medication (Depakote® ER) for Pediatric Epilepsy in a Mental Retardation/Developmental Disorder Population Completed NCT00207935 Phase 4
5 Efficacy of RAD001/Everolimus in Autism and NeuroPsychological Deficits in Children With Tuberous Sclerosis Complex Unknown status NCT01730209 Phase 2, Phase 3
6 Treatment of Mitochondrial Dysfunction in Rett Syndrome With Triheptanoin Recruiting NCT02696044 Phase 2
7 Genetic Disease Gene Identification Unknown status NCT00916903
8 A Neurobiological Study on Heterogeneity of Schizophrenia: Genetic Variations and Neurobiological Differentiations Unknown status NCT01075373
9 Influence of Intrauterine Growth Restriction on Amplitude-integrated EEG in Preterm Infants Unknown status NCT01942525
10 Comparison of Immediate vs Gradual Switch to Divalproex in Adults With Intellectual Disability Completed NCT00347152
11 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
12 The Swedish Versions of ADOS and ADI-R: Psychometric Validation Completed NCT01854333
13 Study of Cardiac and Paroxysmal Abnormalities in Rett Syndrome Completed NCT00004773
14 Polish Mother and Child Cohort Study (REPRO_PL) - Follow up of the Children. Completed NCT01861548
15 Clinical Utility of Serum Biomarkers for the Management of Neonatal Hypoxic Ischemic Encephalopathy (Control Levels) Recruiting NCT02349672
16 Brain Development Research Program Recruiting NCT00305305
17 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168
18 Biomarker for Creatine Deficiency Syndromes Recruiting NCT02934854
19 Neurocognitive and Psychosocial Outcomes in Survivors of Childhood Leukemia With Down Syndrome Recruiting NCT02859389
20 Natural History of Rett Syndrome & Related Disorders Recruiting NCT02738281
21 Osteoporosis in RETT Syndrome Active, not recruiting NCT02110797
22 Procedures for Sample Acquisition and Distribution for The Human Brain Collection Core Enrolling by invitation NCT03092687
23 Finding Genes With NGS Techniques in Whom Mutations Cause Neurological Diseases Not yet recruiting NCT02340871

Search NIH Clinical Center for Mental Retardation Epilepsy

Genetic Tests for Mental Retardation Epilepsy

Anatomical Context for Mental Retardation Epilepsy

MalaCards organs/tissues related to Mental Retardation Epilepsy:

39
Temporal Lobe

Publications for Mental Retardation Epilepsy

Articles related to Mental Retardation Epilepsy:

(show all 13)
id Title Authors Year
1
A Family with Mental Retardation, Epilepsy and Cerebellar Hypoplasia Showing Linkage to Chromosome 20p11.21-q11.23. ( 24575028 )
2014
2
Unilateral keratoconus presenting with acute hydrops in a patient with mental retardation, epilepsy, and bronchial asthma. ( 22993471 )
2012
3
Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency. ( 22190902 )
2011
4
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX. ( 21416597 )
2011
5
Rhombencephalosynapsis in a patient with mental retardation, epilepsy, and dysmorphisms. ( 21057840 )
2011
6
De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features. ( 21626670 )
2011
7
De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems. ( 21333764 )
2011
8
Interstitial deletion of chromosome 4p associated with mild mental retardation, epilepsy and polymicrogyria of the left temporal lobe. ( 17941887 )
2007
9
Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4. ( 11782983 )
2002
10
Mental retardation, epilepsy, short stature, and skeletal dysplasia: confirmation of the Gurrieri syndrome. ( 8882779 )
1996
11
Gingival fibromatosis, mental retardation, epilepsy and hypertrichosis. ( 2113016 )
1990
12
Idiopathic familial gingival fibromatosis associated with mental retardation, epilepsy and hypertrichosis. ( 2806737 )
1989
13
Rud syndrome revisited: ichthyosis, mental retardation, epilepsy and hypogonadism. ( 3926570 )
1985

Variations for Mental Retardation Epilepsy

Expression for Mental Retardation Epilepsy

Search GEO for disease gene expression data for Mental Retardation Epilepsy.

Pathways for Mental Retardation Epilepsy

GO Terms for Mental Retardation Epilepsy

Biological processes related to Mental Retardation Epilepsy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 8.62 ATIC ATP6AP2

Molecular functions related to Mental Retardation Epilepsy according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.96 ATP6AP2 PHF6
2 catalytic activity GO:0003824 8.62 ATIC ATP6AP2

Sources for Mental Retardation Epilepsy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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