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Article

Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.

American journal of human genetics - 1 Dec 2016

Han Chanshuai, Alkhater Reem, Froukh Tawfiq, Minassian Arakel G, Galati Melissa, Liu Rui Han, Fotouhi Maryam, Sommerfeld Julia, Alfrook Ayman J, Marshall Christian, Walker Susan, Bauer Peter, Scherer Stephen W, Riess Olaf, Buchert Rebecca, Minassian Berge A, McPherson Peter S

Abstract excerpt

Epileptic encephalopathies are a catastrophic group of epilepsies characterized by refractory seizures and cognitive arrest, often resulting from abnormal brain development. Here, we have identified an epileptic encephalopathy additionally featuring cerebral calcifications and coarse facial features caused by recessive loss-of-function mutations in DENND5A. DENND5A contains a DENN domain, an evolutionarily...

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Identifiers

PMID: 27866705
DOI: 10.1016/j.ajhg.2016.10.006
PMCID: PMC5142110

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