De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

doi:10.1016/j.ajhg.2017.08.013

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Article

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

American journal of human genetics - 5 Oct 2017

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

Abstract excerpt

Exome sequencing has readily enabled the discovery of the genetic mutations responsible for a wide range of diseases. This success has been particularly remarkable in the severe epilepsies and other neurodevelopmental diseases for which rare, often de novo, mutations play a significant role in disease risk. Despite significant progress, the high genetic heterogeneity of these disorders often requires large sample...

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PMID: 28942967
DOI: 10.1016/j.ajhg.2017.08.013
PMCID: PMC5630160

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