MCID: MNT014
MIFTS: 26

Mental Retardation Epilepsy malady

Neuronal category

Summaries for Mental Retardation Epilepsy

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33MalaCards
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MalaCards: Mental Retardation Epilepsy is related to mental retardation and fibromatosis. An important gene associated with Mental Retardation Epilepsy is ARX (aristaless related homeobox). Affiliated tissues include brain, skin and temporal lobe, and related mouse phenotypes are muscle and reproductive system.

Aliases & Classifications for Mental Retardation Epilepsy

Sources:
43NIH Rare Diseases
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal


Aliases & Descriptions:

mental retardation epilepsy 43


Related Diseases for Mental Retardation Epilepsy

Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Mental Retardation Epilepsy:



Diseases related to mental retardation epilepsy

Clinical Features for Mental Retardation Epilepsy

Drugs & Therapeutics for Mental Retardation Epilepsy

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Mental Retardation Epilepsy

Drug clinical trials:

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Search NIH Clinical Center for Mental Retardation Epilepsy

Search CenterWatch for Mental Retardation Epilepsy

Genetic Tests for Mental Retardation Epilepsy

Anatomical Context for Mental Retardation Epilepsy

Sources:
33MalaCards
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MalaCards organs/tissues related to Mental Retardation Epilepsy:

33
Brain, Skin, Temporal lobe

Animal Models for Mental Retardation Epilepsy or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Mental Retardation Epilepsy

Sources:
51PubMed
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Articles related to Mental Retardation Epilepsy:

(show top 50)    (show all 89)
idTitleAuthorsYear
1
Unilateral keratoconus presenting with acute hydrops in a patient with mental retardation, epilepsy, and bronchial asthma. (22993471)
2012
2
Novel AGTR2 missense mutation in a Japanese boy with severe mental retardation, pervasive developmental disorder, and epilepsy. (22269148)
2012
3
A rare unbalanced translocation 1;18 in a child with epilepsy, mild dysmorphology and mental retardation. (22555332)
2012
4
Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR). (22932693)
2012
5
Cryptic chromosome rearrangements in five patients, with normal and/or abnormal karyotypes, associated with mental retardation, autism and/or epilepsy, detected by BAC genome array-CGH. (23249659)
2012
6
Chromosome 8p23.2-pter: a critical region for mental retardation, autism and epilepsy? (21371014)
2011
7
Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. (21519002)
2011
8
Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy. (21763164)
2011
9
Duplication of MAOA, MAOB, and NDP in a patient with mental retardation and epilepsy. (20808325)
2011
10
De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features. (21626670)
2011
11
Duplications of FOXG1 in 14q12 are associated with developmental epilepsy, mental retardation, and severe speech impairment. (20736978)
2011
12
Autism in Dravet syndrome: prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation. (21620773)
2011
13
Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX. (21416597)
2011
14
Genome arrays for the detection of copy number variations in idiopathic mental retardation, idiopathic generalized epilepsy and neuropsychiatric disorders: lessons for diagnostic workflow and research. (22056632)
2011
15
ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. (21204215)
2011
16
Whole Xp Deletion in a Girl with Mental Retardation, Epilepsy, and Biochemical Features of OTC Deficiency. (22190902)
2011
17
A new locus for autosomal dominant generalized epilepsy associated with mild mental retardation on chromosome 3p. (21480884)
2011
18
Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families. (19752159)
2010
19
Anterior corpus callosotomy in patients with intractable generalized epilepsy and mental retardation. (20530978)
2010
20
Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome. (20830798)
2010
21
MMMM syndrome (macrocephaly, megalocornea, motor and mental retardation) and refractory epilepsy. (20730324)
2010
22
Cherubism combined with epilepsy, mental retardation and gingival fibromatosis (Ramon syndrome): a case report. (20512637)
2010
23
Neuronal hyperexcitability and seizures are associated with changes in glial-neuronal interactions in the hippocampus of a mouse model of epilepsy with mental retardation. (21044073)
2010
24
Mutations in the small GTPase gene RAB39B are responsible for X- linked mental retardation associated with autism, epilepsy, and macrocephaly. (20159109)
2010
25
Duplication of the VHL and IRAK2 genes in a patient with mental retardation/multiple congenital anomalies, epilepsy and ectomorphic habitus. (20420027)
2010
26
Anterior temporal lobectomy combined with anterior corpus callosotomy in patients with temporal lobe epilepsy and mental retardation. (20554457)
2010
27
A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardation. (18615734)
2009
28
Array-CGH detection of a de novo 0.7-Mb deletion in 19p13.13 including CACNA1A associated with mental retardation and epilepsy with infantile spasms. (19874387)
2009
29
Three human ARX mutations cause the lissencephaly-like and mental retardation with epilepsy-like pleiotropic phenotypes in mice. (19605412)
2009
30
Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation. (18413482)
2008
31
Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation. (18925676)
2008
32
A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor. (15746149)
2005
33
Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons. (15376319)
2004
34
The de novo chromosome 16 translocations of two patients with abnormal phenotypes (mental retardation and epilepsy) disrupt the A2BP1 gene. (15148587)
2004
35
Familial hyperinsulinaemia associated with epilepsy and mental retardation--a syndrome of familial insulin resistance. (15154952)
2004
36
Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations. (12838518)
2003
37
X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations. (12689693)
2003
38
Novel mental retardation-epilepsy syndrome linked to Xp21.1-p11.4. (11782983)
2002
39
Two brothers with macrocephaly, progressive cerebral atrophy and abnormal white matter, severe mental retardation, and Lennox-Gastaut spectrum type epilepsy: an inherited encephalopathy of childhood? (11745991)
2001
40
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. (10632111)
2000
41
Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy. (10922387)
2000
42
A case of Adams-Oliver syndrome associated with acrania, microcephaly, hemiplegia, epilepsy, and mental retardation. (11233683)
2000
43
Positional cloning and characterization of the human DLGAP2 gene and its exclusion in progressive epilepsy with mental retardation. (10854099)
2000
44
A family with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. (9840354)
1998
45
Epilepsy and mental retardation limited to females: an X-linked dominant disorder with male sparing. (9288105)
1997
46
Genetic and physical mapping of the progressive epilepsy with mental retardation (EPMR) locus on chromosome 8p. (8743986)
1996
47
Gingival fibromatosis, mental retardation, epilepsy and hypertrichosis. (2113016)
1990
48
Idiopathic familial gingival fibromatosis associated with mental retardation, epilepsy and hypertrichosis. (2806737)
1989
49
Bilateral central macrogyria: epilepsy, pseudobulbar palsy, and mental retardation--a recognizable neuronal migration disorder. (2500888)
1989
50
Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature. (6580169)
1983

Genetic Variations for Mental Retardation Epilepsy

Expression for genes affiliated with Mental Retardation Epilepsy

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mental Retardation Epilepsy

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Pathways for genes affiliated with Mental Retardation Epilepsy

Compounds for genes affiliated with Mental Retardation Epilepsy

GO Terms for genes affiliated with Mental Retardation Epilepsy

Sources:
16Gene Ontology
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Biological processes related to Mental Retardation Epilepsy according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1neuromuscular process controlling balanceGO:0508859.3RBFOX1, CACNA1A

Products for genes affiliated with Mental Retardation Epilepsy

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Sources for Mental Retardation Epilepsy

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet