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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease c syndrome
Comorbidity C0014544|epilepsy
Sentences 13
PubMedID- 25667870 Among them is an uncommon syndrome called abdominal epilepsy in which gastrointestinal complaints are the primary or the sole manifestation of epileptic seizures.
PubMedID- 24069608 Once a consensus on the classification of psychotic syndromes associated with epilepsy is lacking, and neither dsm-iv nor icd-10 has addressed this issue specifically, the diagnosis of psychosis associated with mtle was established according to sachdev [29], meaning that patients with interictal psychosis did not experience the following: psychotic disorder temporally associated with seizures, changes in antiepileptic medications, epileptic status, delirium, and psychosis for paradoxical normalization.
PubMedID- 23755911 Purpose: to evaluate the association between the bsmi polymorphism and vascular risk factors or metabolic syndrome in patients with epilepsy treated with valproate.
PubMedID- 22578097 Significance: although these cases and a review of the literature indicate that epilepsy associated with mecp2 duplication syndrome cannot be considered a useful marker for early diagnosis, epilepsy is present in >90% of adolescent patients and shows a peculiar electroclinical pattern.
PubMedID- 22779920 Methods: a pediatric angelman syndrome cohort with refractory epilepsy was treated with the lgit and followed prospectively over 4 months.
PubMedID- 24350775 After achieving a 2-year remission, 107 out of 442 children of their cohort (24,2%) experienced a relapse and the risk of relapse varied by epileptic syndrome, with juvenile myoclonic epilepsy carrying a very high risk and idiopathic partial epilepsy a very low risk.
PubMedID- 21365603 The etiology is multifactorial, being affected by the type of epileptic syndrome, the cause of epilepsy, a high frequency of epileptic seizures, a previous history of status epilepticus, the age of onset of epilepsy, the antiepileptic treatment being selected, and the role of interictal epileptiform discharges.
PubMedID- 20509907 Glut1 gene located in this region has recently appeared to cause a specific syndrome with drug-resistant epilepsy, developmental delay, microcephaly, spasticity, ataxia [5].
PubMedID- 25889039 Once a consensus on the classification of psychotic syndromes associated with epilepsy was lacking at the time of collection, and neither dsm-iv nor icd-10 has addressed this issue specifically (for a review, please see [20]), the diagnosis of psychosis associated with mtle was established according to sachdev [25], meaning that patients with interictal psychosis did not experience the following: psychotic disorder temporally associated with seizures, changes in antiepileptic medications, epileptic status, delirium, and psychosis for paradoxical normalization (for review, please see [26]).
PubMedID- 24796722 Objective: neurological manifestations including psychomotor developmental delay and epilepsy in patients with angelman syndrome caused by ubiquitin protein ligase e3a (ube3a) mutations has been considered similar but is relatively milder than that in patients with deletion-type angelman syndrome.
PubMedID- 21685521 According to our preliminary data vpa monotherapy increases the risk of metabolic syndrome in patients with epilepsy, but bmi did not differ between vpa monotherapy study group, cbz monotherapy study group and controls.
PubMedID- 25038132 This retrospective cohort study aims to assess the distribution of seizure types and epileptic syndromes in children with epilepsy who were followed up in a tertiary outpatient pediatric neurology clinic between january 2004 and december 2009.
PubMedID- 25078464 Background: no study has explored the risk of metabolic syndrome (ms) in patients with epilepsy treated with valproate (vpa) at the population level.

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