Article

Recessive inactivating mutations in TBCK, encoding a Rab GTPase-activating protein that modulates mTOR signaling, cause severe infantile syndromic encephalopathy

2016-01-06

Abstract excerpt

Infantile encephalopathies are a group of clinically and biologically heterogeneous disorders for which the genetic basis remains largely unknown. Here, we report a previously unrecognized syndromic neonatal encephalopathy characterized by profound developmental disability, severe hypotonia, seizures, diminished respiratory drive requiring mechanical ventilation, brain atrophy, corpus callosum dysgenesis, cerebell...

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Literature Corpus work: 15f29f05-f4a1-5f6c-bf3f-bc2086ab7df9
DOI: 10.1101/036111

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