A maternally inherited frameshift CDKL5 variant in a male with global developmental delay and late‐onset generalized epilepsy-Reference-Cited by-同舟云学术

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

Published:2019-01-09 Issue:3 Volume:179 Page:507-511
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Fraser Harry¹^ORCID,Goldman Amy¹,Wright Ronnie¹,Banka Siddharth¹²,

Affiliation:

1. Manchester Centre for Genomic MedicineSt Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester Manchester United Kingdom

2. Division of Evolution & Genomic SciencesSchool of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester Manchester United Kingdom

Funder

National Institute for Health Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.40661

Reference29 articles.

1. A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia

2. Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5 ‐related disease

3. CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients

4. Functional Consequences of Mutations inCDKL5, an X-linked Gene Involved in Infantile Spasms and Mental Retardation

5. Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders

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1. CDKL5 deficiency disorder in males: Five new variants and review of the literature;European Journal of Paediatric Neurology;2021-07

2. CDKL5 Gene: Beyond Rett Syndrome;Journal of Pediatric Neurology;2021-04-13