De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures-Reference-Cited by-同舟云学术

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De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures

Published:2017-10 Issue:4 Volume:101 Page:516-524
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Myers Candace T.,Stong Nicholas,Mountier Emily I.,Helbig Katherine L.,Freytag Saskia,Sullivan Joseph E.,Ben Zeev Bruria,Nissenkorn Andreea,Tzadok Michal,Heimer Gali,Shinde Deepali N.,Rezazadeh Arezoo,Regan Brigid M.,Oliver Karen L.,Ernst Michelle E.,Lippa Natalie C.,Mulhern Maureen S.,Ren Zhong,Poduri Annapurna,Andrade Danielle M.,Bird Lynne M.,Bahlo Melanie,Berkovic Samuel F.,Lowenstein Daniel H.,Scheffer Ingrid E.,Sadleir Lynette G.,Goldstein David B.,Mefford Heather C.,Heinzen Erin L.

Funder

Lennox-Gaustaut Syndrome Foundation

American Epilepsy Society

NIH National Institute of Neurological Disorders and Stroke

Health Research Council of New Zealand

Cure Kids New Zealand

Australian National Health and Medical Research Council

Victorian State Government Operational Infrastructure Support

Australian Government NHMRC IRIISS

Janssen

Gilead

Biogen

AstraZeneca

UCB

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference55 articles.

1. De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies;Am. J. Hum. Genet.,2014

2. Epi4K: gene discovery in 4,000 genomes;Epilepsia,2012

3. De novo mutations in epileptic encephalopathies;Nature,2013

4. De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome;Suls;Am. J. Hum. Genet.,2013

5. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis;Martin;Hum. Mol. Genet.,2014

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1. PPP3CA gene-related developmental and epileptic encephalopathy: expanding the electro-clinical phenotype;Seizure: European Journal of Epilepsy;2024-08

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3. The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children;Clinical Genetics;2024-01-14

4. De novo variants in KCNA3 cause developmental and epileptic encephalopathy;Annals of Neurology;2023-12-28

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