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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease angelman syndrome
Symptom C0014544|epilepsy
Sentences 4
PubMedID- 24764755 Phenotypic findings similar to the angelman syndrome, with asd, epilepsy and behavioral problems.
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- 20398390 epilepsy in patients with angelman syndrome.
PubMedID- 22779920 Methods: a pediatric angelman syndrome cohort with refractory epilepsy was treated with the lgit and followed prospectively over 4 months.

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