PedAM
Pediatric Disease Annotations & Medicines
| Disease | intellectual disability |
| Phenotype | C0014544|epilepsy |
| Sentences | 23 |
| PubMedID- 24024028 | Survivors into childhood have pharmacoresistant epilepsy with severe intellectual disability. |
| PubMedID- 25751627 | Second, we performed panel sequencing (supplemental note) in 147 adult patients with a broad spectrum of epilepsy phenotypes associated with intellectual disability. |
| PubMedID- 25099823 | Angelman syndrome (as) is characterized by severe intellectual disability with ataxia, epilepsy, and behavioral uniqueness. |
| PubMedID- 25599987 | Established risk factors for an increased risk of epilepsy in patients with asd include intellectual disability and female gender. |
| PubMedID- 23691114 | The relationship of intellectual disability with refractory epilepsy and autism/asd is shown in figure 3. all patients with severe (level 3) intellectual disabilities had refractory epilepsy. |
| PubMedID- 22050399 | All four patients had absence epilepsy with various degrees of intellectual disability. |
| PubMedID- 26395556 | The patients display common clinical features, including intellectual disability with epilepsy, owing to the presence of stxbp1 within the deletion, nail dysplasia and bone malformations, in particular patellar abnormalities attributed to lmx1b deletion, epistaxis and cutaneous-mucous telangiectasias explained by eng haploinsufficiency and common facial dysmorphism. |
| PubMedID- 24784135 | Except pigm, all lead to a decreased surface expression of gpi-aps and result in intellectual disability, often associated with epilepsy, distinct facial characteristics, and further organ malformations [9]–[22]. |
| PubMedID- 22285238 | Factors influencing the costs of epilepsy in adults with an intellectual disability. |
| PubMedID- 24289166 | Given the heterogeneity of general cognitive function in asd, we used two measures to assess whether epilepsy was associated with intellectual disability in multiplex autism. |
| PubMedID- 26514728 | Methods: we screened stxbp1 in a cohort of 284 patients with epilepsy associated with a developmental delay/intellectual disability and brain magnetic resonance imaging (mri) without any obvious structural abnormality. |
| PubMedID- 21364700 | intellectual disability without epilepsy associated with stxbp1 disruption. |
| PubMedID- 24068782 | Copy number variants are frequent in genetic generalized epilepsy with intellectual disability. |
| PubMedID- 21423496 | The prevalence of epilepsy increases greatly with severe intellectual disability in many forms of mr. |
| PubMedID- 22644605 | intellectual disability coupled with epilepsy are clinical hallmarks of the creatine (cr) transporter deficiency syndrome resulting from mutations in the slc6a8 gene. |
| PubMedID- 21972278 | epilepsy was associated with gender (female), intellectual disability and poorer verbal abilities. |
| PubMedID- 26364767 | Foxg1-related disorders are caused by heterozygous mutations in foxg1 and result in a spectrum of neurodevelopmental phenotypes including postnatal microcephaly, intellectual disability with absent speech, epilepsy, chorea, and corpus callosum abnormalities. |
| PubMedID- 25898924 | Collybistin (cb), a neuron-specific rho-gef responsible for x-linked intellectual disability with epilepsy, also interacts with eif3, and its binding partner gephyrin associates with mtor. |
| PubMedID- 24002024 | Dravet syndrome is a catastrophic pediatric epilepsy with severe intellectual disability, impaired social development and persistent drug-resistant seizures. |
| PubMedID- 25081545 | Furthermore, two css patients were reported to have a phf6 abnormality, which can also cause borjeson-forssman-lehmann syndrome (omim#301900), an x-linked intellectual disability syndrome with epilepsy and endocrine abnormalities. |
| PubMedID- 21719429 | We show that diagnosis even late(r) in life, in patients previously labelled as having drug-resistant epilepsy with intellectual disability of unknown cause, can carry important implications for affected patients; rational treatment changes can be instituted, with possible benefit as we and others have shown, even after years of drug resistance. |
| PubMedID- 23400237 | There is a convergence of evidence that when epilepsy coexists with asd and intellectual disability they share etiopathogenic mechanisms. |
| PubMedID- 21752594 | In a population of institutionalized epilepsy patients with intellectual disability, higher drug loads of mood-stabilizing antiepileptic drugs correspond with less use of psychotropic drugs. |
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