A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late‐onset generalized epilepsy期刊界 All Journals 搜尽天下杂志传播学术成果专业期刊搜索期刊信息化学术搜索

A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late‐onset generalized epilepsy

Authors:	Harry Fraser Amy Goldman Ronnie Wright The Deciphering Developmental Disorders Study Siddharth Banka

Affiliation:	1. https://orcid.org/0000-0001-9584-0958;2. Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, United Kingdom;3. Harry Fraser, Manchester Centre for Genomic Medicine, Saint Mary's Hospital, Oxford Road, Manchester M13 9WL, UK.;4. The Wellcome Trust Sanger Institute, Cambridge, United Kingdom;5. Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, United Kingdom

Abstract:

Keywords:	CDKL5 developmental delay epilepsy intellectual difficulty X‐linked inheritance