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Article

Angelman Syndrome Due to UBE3A Gene Mutation.

Indian journal of pediatrics - 1 May 2018

Goswami Jyotindra Narayan, Sahu Jitendra Kumar, Singhi Pratibha

Abstract excerpt

A 12-y-old boy presented with developmental delay, autism, epilepsy, limb tremors and behavioral problems which posed a diagnostic challenge. Though his clinical profile and electroencephalogram were suggestive of Angelman syndrome, initial genetic tests were unyielding. Exome sequencing revealed a previously unreported mutation of Ubiquitin Protein Ligase E3A (UBE3A) gene, confirming the diagnosis of Angelman...

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Identifiers

PMID: 29250725
DOI: 10.1007/s12098-017-2559-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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