Somatic Mutation in Pediatric Neurological Diseases-Reference-Cited by-同舟云学术

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Somatic Mutation in Pediatric Neurological Diseases

Published:2018-10 Issue: Volume:87 Page:20-22
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Rodin Rachel E.,Walsh Christopher A.

Funder

National Institute of General Medical Sciences

NINDS

NIMH

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health

Reference15 articles.

1. Somatic mutations in cerebral cortical malformations;Jamuar;N Engl J Med,2014

2. Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study;Mirzaa;Lancet Neurol,2015

3. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia;Jansen;Brain,2015

4. Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias;D'Gama;Cell Rep,2017

5. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes;Riviere;Nat Genet,2012

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2. Specific Features of Focal Cortical Dysplasia in Tuberous Sclerosis Complex;Current Issues in Molecular Biology;2023-05-03

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4. The emergence of genotypic divergence and future precision medicine applications;Precision Medicine in Neurodegenerative Disorders, Part I;2023

5. The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2;Genetics in Medicine;2022-11

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