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PedAM

Pediatric Disease Annotations & Medicines




Disease epilepsy
Phenotype C0004352|autism
Sentences 35
PubMedID- 22787634 Ube3a modulation of rest, which controls gabrb3 expression, and mecp2 modification of ube3a link rett, angelman, and autism syndromes with epilepsy, and invoke epigenetic mechanisms in epileptogenesis.
PubMedID- 21200441 Fourteen patients with autism had a history of idiopathic epilepsy and were being treated with anticonvulsants.
PubMedID- 20805019 Thus, epilepsy in autism is not the secondary manifestation, but one of the pathognomonic symptoms of autism.
PubMedID- 25627160 No differences in levels of any of the proteins studied (pi3k p85, akt, total and phosphorylated mtor, trkb isoforms, p70s6k, eif4b or psd-95) were found between autism cases with seizure disorder and those without (p > 0.05, 2-tailed t tests).
PubMedID- 22454601 This is consistent with the fact that the most prevalent disease, that were recorded (i.e., severe mental retardation, autism, developmental disorders of speech and language, epilepsy, and cerebral palsy) are usually diagnosed during childhood or adolescence.
PubMedID- 24270788 To formulate a weighted hypothesis regarding genes and molecular mechanisms potentially contributing to epilepsy in patients with autism, we have performed the following steps:step 1: lynx advanced search was used to perform ‘fuzzy’ search for autism candidate genes against ‘disease’ object.
PubMedID- 23258348 We examined postnatal specimens received by our laboratory, mostly from the united states, for clinical microarray-based comparative genomic hybridization between march 2004 and april 2012. the analysis of indications for study among samples received in the first quarter of 2008 and of 2011 showed that 51–54% of individuals have developmental delay/intellectual disability and 10–11% have epilepsy, whereas cases with autism spectrum disorders have increased from 10% to 14%, those with congenital anomalies have increased from 16% to 23%, but those with dysmorphic features have decreased from 25% to 16%.
PubMedID- 24086423 Conclusions: tall stature seems to be a phenotypic "biomarker" of susceptibility to eeg abnormalities or late epilepsy in autism spectrum disorders and, when concurring with macrocephaly, predisposes to early onset seizures.
PubMedID- 21359057 Purpose: to investigate the clinical characteristics of late-onset epilepsy combined with autism spectrum disorder (asd), and the relationship between certain types of electroencephalography (eeg) abnormalities in asd and associated neuropsychological problems.
PubMedID- 23122323 Background: the high occurrence of epilepsy in children with autism spectrum disorders (asd) is a clear indication that asd has a neurobiological basis.
PubMedID- 25595448 The frequency of epilepsy in autism has been reported to range from 5% to 38.3% [21], but long-duration video-electroencephalogram (eeg) telemetry of children with asd and the history of regression reveal an epileptiform eeg in another 46% of asd cases [24].
PubMedID- 23803181 Beyond core symptoms, people with autism display a number of comorbidities including seizure disorder, intellectual disability, and other cognitive impairments [6].
PubMedID- 22406156 Conclusions: genetic studies must be performed in view of the established clinical symptoms: neonatal hypotonia of unknown cause in pws and psychomotor deficits with autism features, particularly associated with epilepsy, must be evaluated in as to prevent diagnostic uncertainties, unnecessary complementary examinations and to provide early genetic counselling.
PubMedID- 26504494 This association is further suggested by the frequent overlap of childhood epilepsy with autism spectrum disorder (asd) and attention deficit hyperactivity disorder (adhd), conditions in which altered behavioral responses to sensory stimuli have been firmly established.
PubMedID- 22787637 Pathophysiology of epilepsy in autism spectrum disorders
PubMedID- 20691552 The occurrence of epilepsy in autism is variable; nevertheless, eeg paroxysmal abnormalities (pa) are frequently recorded in patients with autism, although the influence of epilepsy and/or eeg pa on the autistic regression has not been clarified yet.
PubMedID- 19455149 Varying reports have indicated a co-morbidity of epilepsy with autism at 5-38%.
PubMedID- 24289166 The risk of epilepsy in individuals with simplex autism was significantly associated with intellectual disability and gender.
PubMedID- 24622158 This is significantly higher than the general population, but lower than published reports of epilepsy in autism likely due to the inclusion criteria of probands with relatively little intellectual disability.
PubMedID- 23726375 epilepsy associated with autism and attention deficit hyperactivity disorder: is there a genetic link.
PubMedID- 24002902 In contrast, pcna+ cell numbers increased only in autism with epilepsy both in the hypocellular gap and in the ependymal layer on the septal but not striatal side.
PubMedID- 25324312 On the other side, the overlap analysis (figure 2d) revealed that ‘mr-ep’ genes and ‘asd-ep’ genes have the largest number of common epileptic phenotypes (86 phenotypes), which may account for the high prevalence of epilepsy in individuals with autism and mr. in pathway analysis (table 1), ‘neuroactive ligand-receptor interaction’, a pathway concerning neuronal brain function (43), was found to exhibit the highest enrichment scores in three overlapping gene sets (‘adhd-ep’, ‘asd-ep’ and ‘scz-ep’).
PubMedID- 24098278 This outcome could offer clues on the high prevalence of epilepsy in autism (about 30%) (reviewed in levisohn, 2007; hughes, 2008), and has profound implications for lpfc function, like working memory, as reported for autism (luna et al., 2002; steele et al., 2007).
PubMedID- 22114996 Infantile spasms constitute an age-dependent epilepsy, highly associated with cognitive impairment, autism, and movement disorders.
PubMedID- 20152887 autism is associated with epilepsy in early childhood and epilepsy occurs in 10-30% of individuals with autism.
PubMedID- 23861807 Objectives: to estimate the prevalence of epilepsy in children with autism spectrum disorder (asd) and to determine the demographic and clinical characteristics of children with asd and epilepsy in a large patient population.
PubMedID- 21972278 Putative risk factors for epilepsy in autism were identified and these will require further investigation in future studies.
PubMedID- 21760924 A few inborn errors of purine (especially adenylosuccinase deficiency) and pyrimidine (especially dihydropyrimidine dehydrogenase deficiency) metabolism [25] may include autism in association with psychomotor retardation, epilepsy and muscular wasting in adenylosuccinase deficiency [26].
PubMedID- 25477785 We also address the putative genetic overlap of autism with conditions like epilepsy and schizophrenia, with implications to shared and divergent etiologies.
PubMedID- 25599987 The development of autism spectrum disorder in patients with epilepsy is less well studied, but there is evidence that the asd risk is greater in those with epilepsy than in the general population.
PubMedID- 26112160 Treatment resistant epilepsy in autism spectrum disorder: increased risk for females.
PubMedID- 22103416 Mutations in cdh8 and plcb1 are associated with susceptibility to autism and the development of early-onset epilepsy, respectively (pagnamenta et al., 2011; kurian et al., 2010).
PubMedID- 25944453 Objective: infantile spasms (is) are a severe form of childhood epilepsy associated with autism spectrum disorders (asd) in up to 35% of cases.
PubMedID- 22174805 In correspondence with this theory, approximately 10–30% of individuals with autism are also diagnosed with epilepsy [52]–[53], a disease caused by ion channel dysfunction.
PubMedID- 26384785 autism could be associated with epilepsy—305 (40.3 %) of a total of 757 (100.0 %) final year medical students recognized that asd could be associated with epilepsy, while 452 (59.7 %) do not know or are unsure.

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