A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy

A Case of Autosomal Recessive Intellectual Developmental Disorder Type 5 Presenting with Epilepsy

Autosomal recessive intellectual developmental disorder type 5 (MRT5, OMIM # 611091) is caused by biallelic pathogenic variants, leading to loss of function of the NSUN2 gene which encodes a methyltransferase involved in several biological processes, ranging from stress response to neurodevelopment...

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Bibliographic Details
Main Authors:	Mahpara Hasan, Gayatra Mainali, Ermal Aliu, Sita Paudel
Format:	Article
Language:	English
Published:	Wiley 2022-01-01
Series:	Case Reports in Genetics
Online Access:	http://dx.doi.org/10.1155/2022/4056780
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