PedAM
Pediatric Disease Annotations & Medicines
| Disease | n syndrome |
| Phenotype | C0014544|epilepsy |
| Sentences | 24 |
| PubMedID- 20438626 | There are no deletion or duplication syndromes associated with epilepsy on the short arm of chromosome 5 [19]. |
| PubMedID- 23815573 | epilepsy in mowat-wilson syndrome: is it a matter of gaba. |
| PubMedID- 26319127 | epilepsy in kostmann syndrome: report of a case and review of the literature. |
| PubMedID- 20483713 | Late onset myoclonic epilepsy in down syndrome (lomeds) is a recognized entity usually preceded by cognitive deterioration. |
| PubMedID- 21321373 | We performed cas and the patient then developed hyperperfusion syndrome with epilepsy and was intubated under the management of strict blood control. |
| PubMedID- 21789369 | Taken together, these data raise the following question: is there a risk of sudden unexpected death in epilepsy in individuals with down syndrome who do not respond optimally to the treatment established by neurologists to control their seizures? |
| 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- 24893590 | Progressive myoclonus epilepsy in down syndrome patients with dementia. |
| PubMedID- 20858261 | We describe a 17-year-old girl with autism, mental retardation, and epilepsy with features of the 9p duplication syndrome who has a mosaic marker chromosome derived from 9p24.3 to 9p13.1. |
| 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- 23860154 | Vagus nerve stimulation for drug-resistant epilepsy in a patient with mowat-wilson syndrome. |
| PubMedID- 25661268 | Myoclonic epilepsy in down syndrome and alzheimer disease. |
| PubMedID- 23322667 | epilepsy in mowat-wilson syndrome: delineation of the electroclinical phenotype. |
| PubMedID- 23992680 | Conclusion: cryptogenic epilepsy in down syndrome may develop during the first year of life in the form of is or, successively, as ps or gs. |
| PubMedID- 21398208 | This review discusses the various aspects of epilepsy in down syndrome (ds) from the perspective of paediatric neurology. |
| PubMedID- 24764755 | Phenotypic findings similar to the angelman syndrome, with asd, epilepsy and behavioral problems. |
| PubMedID- 21334927 | Senile myoclonic epilepsy in down syndrome. |
| PubMedID- 24035599 | Objective: the prevalence of epilepsy in patients with down syndrome (ds) is 5-13%, which is higher than the prevalence in the general population. |
| PubMedID- 24062639 | For each channelepsy, information about the name of the mutated gene/protein, its expression in brain regions relevant to the pathology, type of epilepsy and association with other known syndromes, and dysfunction in channel behavior caused by the mutations are reported. |
| PubMedID- 22779920 | Methods: a pediatric angelman syndrome cohort with refractory epilepsy was treated with the lgit and followed prospectively over 4 months. |
| PubMedID- 22338478 | Conclusion: we present a clinical course of epilepsy in a patient with wolf-hirschhorn syndrome. |
| PubMedID- 20398390 | epilepsy in patients with angelman syndrome. |
| PubMedID- 24062348 | Mystery case: cowden syndrome presenting with partial epilepsy related to focal cortical dysplasia. |
| PubMedID- 25894349 | epilepsy in children with down syndrome: not so benign as generally accepted. |
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