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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease intellectual disability
Comorbidity C0014544|epilepsy
Sentences 26
PubMedID- 21972278 epilepsy was associated with gender (female), intellectual disability and poorer verbal abilities.
PubMedID- 26076844 Prevalence of epilepsy among people with intellectual disabilities: a systematic review.
PubMedID- 25099823 Angelman syndrome (as) is characterized by severe intellectual disability with ataxia, epilepsy, and behavioral uniqueness.
PubMedID- 21123090 Future research is needed about the misdiagnosis of epilepsy amongst people with intellectual disabilities and carer knowledge.
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.
PubMedID- 23400237 There is a convergence of evidence that when epilepsy coexists with asd and intellectual disability they share etiopathogenic mechanisms.
PubMedID- 25599987 Established risk factors for an increased risk of epilepsy in patients with asd include intellectual disability and female gender.
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- 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- 24002024 Dravet syndrome is a catastrophic pediatric epilepsy with severe intellectual disability, impaired social development and persistent drug-resistant seizures.
PubMedID- 21392391 In detail, in the same population of young epilepsy adults with mild intellectual disabilities, epilepsy/disability onset in adolescence (after the age of 10 years, compared with disability onset during childhood) was associated with poorer hrqol, both independently and in interaction with neuroticism [21,22].
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- 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- 24068782 Copy number variants are frequent in genetic generalized epilepsy with 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- 24289166 However, the prevalence of major effect genetic risk factors as a function of epilepsy, intellectual disability and gender in multiplex families remains unknown.
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- 22050399 All four patients had absence epilepsy with various degrees of intellectual disability.
PubMedID- 21423496 The prevalence of epilepsy increases greatly with severe intellectual disability in many forms of mr.
PubMedID- 24024028 Survivors into childhood have pharmacoresistant epilepsy with severe 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- 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- 26333428 Background: the prevalence of epilepsy among people with intellectual disabilities is much higher than in the general population.
PubMedID- 22285238 Factors influencing the costs of epilepsy in adults with an intellectual disability.
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- 21364700 intellectual disability without epilepsy associated with stxbp1 disruption.

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