PedAM
Pediatric Disease Annotations & Medicines
| Disease | epilepsy |
| Symptom | C0025362|mental retardation |
| Sentences | 34 |
| PubMedID- 22302580 | The mnd mouse, carrying a mutation in the cln8 gene, has been proposed as a model of epilepsy with mental retardation (epmr, ornorthern epilepsy). |
| PubMedID- 21840769 | In group 2 patients, the epilepsy is associated with mental retardation and dependent personality traits. |
| PubMedID- 23400866 | Conclusions: although this syndrome is extremely rare, it is important to consider sgs in the differential diagnosis of infantile-onset epilepsy with progressive neurodevelopmental retardation, especially in patients with multiple anomalies and facial dysmorphism. |
| PubMedID- 19592390 | Mef2c haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations. |
| PubMedID- 25324312 | Besides, the prevalence of epilepsy in patients with autism and mental retardation (mr) is up to 40% (5,6), and individuals with epilepsy are at an increased risk of developing schizophrenia (scz) like psychosis (7). |
| PubMedID- 23280234 | Initially, a w356x mutation in syn1 was reported in a family segregating syndromic epilepsy associated with mental retardation, macrocephaly and behavioral disturbances (aggressive behavior and asd-like phenotype) . |
| PubMedID- 24962993 | 2010) and non-syndromic epilepsy with mental retardation (hamdan et al. |
| PubMedID- 21124998 | Pcdh19, a protocadherin, has also been implicated in epilepsy with mental retardation limited to females (efmr) (dibbens et al. |
| PubMedID- 24174797 | In 20% cases of familial epilepsy, 31.57% cases with mental retardation and 50% cases with psychosis, significant brain pathologies were detected. |
| PubMedID- 23705128 | Inv dup(15) or isodicentric chromosome 15 idic(15) displays distinctive clinical findings represented by hypotonia, developmental delay, mental retardations, difficulty with controlling epilepsy, autism, and autistic like behavior. |
| PubMedID- 21990111 | Phenotypic divergence is exemplified by different cln8 mutations giving rise to two very different diseases, the mild cln8 disease, epmr (progressive epilepsy with mental retardation), and the more severe cln8 disease, late infantile variant. |
| PubMedID- 25776526 | Subjects with a history of cns opportunistic infection, trauma, epilepsy, ms, known causes of mental retardation, dementia, or active psychotic illness were excluded. |
| PubMedID- 23776372 | epilepsy with mental retardation limited to females is a remarkable x-linked disorder where heterozygous females are affected but hemizygous males are spared.104,105 carrier males transmit the condition to all of their daughters. |
| PubMedID- 23142642 | Two distinct clinical phenotypes, the progressive epilepsy with mental retardation (epmr) and a late-infantile variant of ncls (cln8-vlincl) are associated with mutations in the cln8 gene that encodes a transmembrane protein predominantly located to the endoplasmic reticulum (er). |
| PubMedID- 22091964 | Recently, missense and truncating mutations in the gene pcdh19 have been reported to cause female-restricted epilepsy with mental retardation (efmr). |
| PubMedID- 22615685 | The role of collybistin as a cofactor in gephyrin clustering is emphasized by human disease states, where mutations of collybistin result in x-linked mental retardation associated with epilepsy due to impaired gabaar clustering (shimojima et al., 2011). |
| PubMedID- 21480884 | A new locus for autosomal dominant generalized epilepsy associated with mild mental retardation on chromosome 3p. |
| PubMedID- 24130597 | The patient described here was diagnosed case of generalized form of epilepsy with mental retardation and on carbamazepine since the age of 6 years. |
| PubMedID- 20159109 | Mutations in the small gtpase gene rab39b are responsible for x-linked mental retardation associated with autism, epilepsy, and macrocephaly. |
| PubMedID- 21044073 | We suggest that astrocyte dysfunction plays a primary role in the pathology and that mnd mice are of value to investigate early pathogenetic mechanism of progressive epilepsy with mental retardation. |
| PubMedID- 20236110 | This large number of patients ascertained through highly variable samples has been necessary to describe the full phenotypic spectrum of this microdeletion, ranging from mental retardation with dysmorphic features, epilepsy, neuropsychiatric disturbances with or without cognitive impairment to complete absence of anomalies. |
| PubMedID- 20587048 | Fifty-eight of the 120 patients (48%) had skin scarring due to purpura (ranging from barely visible scars to extremely mutilating scars); 10 (8%) amputation(s) of extremities (ranging from one toe to both legs and one arm); 7 (6%) lower limb-length discrepancy; 42 (35%) neurological impairment(s) (mental retardation with epilepsy, hearing loss, chronic headache or focal neurological signs); and 1(6%) of the 16 patients with septic shock-associated acute renal failure at picu admission showed signs of mild chronic renal failure . |
| PubMedID- 20034088 | All patients had severe mental retardation with epilepsy and microcephaly. |
| PubMedID- 20205897 | The presence of epilepsy associated with mental retardation, absent language, occasional laughter, microcephaly, and facial dysmorphisms could also suggest angelman syndrome; however this was excluded due to the presence of a normal pattern of methylation at snrpn locus (region 15q11-q12). |
| PubMedID- 24025425 | In x-linked mental retardation associated with autism, epilepsy and macrocephaly one study has found two different loss-of-function mutations in rab39b. |
| PubMedID- 23279911 | To our knowledge, this is the first published report of 9q21 microdeletions and our observations strongly suggest that these deletions are responsible for a new genetic syndrome characterised by mental retardation with speech delay, epilepsy, autistic behaviour and moderate facial dysmorphy. |
| PubMedID- 21046408 | For arx, mutations figured above the protein are responsible for malformation phenotypes (group 1, see text) whereas mutations shown below are responsible for mental retardation with or without epilepsy (group 2). |
| PubMedID- 25204757 | epilepsy in females with mental retardation (efmr) is a rare early infantile epileptic encephalopathy (eiee), phenotypically resembling dravet syndrome (ds). |
| PubMedID- 22654603 | Further, for the genotype frequencies of bdnf gene polymorphism, all two patient subgroups (idiopathic/symptomatic epilepsy), epileptic children with mental retardation and cerebral palsy showed similar distribution of the 270c/t allele (table 2). |
| PubMedID- 21482751 | Two genes causally involved in refractory epilepsy with mental retardation, cyclin-dependent kinase-like 5 and aristaless-related homeobox, could account for at least some forms of early onset epileptic encephalopathy that still lack etiological explanation. |
| PubMedID- 21204215 | Arx polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia. |
| PubMedID- 25667822 | 9, 10% of neonatal or early-infantile refractory epilepsy with developmental retardation have kcnq2 mutations. |
| PubMedID- 22949144 | The occurrence of epilepsy with mental retardation limited to females (efmr; mim 300088) has been recently associated to mutations in the pcdh19 gene, located on chromosome x and encoding for protocadherin 19. |
| PubMedID- 23272938 | It is to note, that rab39b mutations cause x-linked mental retardation associated with autism, epilepsy, and macrocephaly . |
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