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Article

Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.

American journal of human genetics - 7 Apr 2016

Chong Jessica X, Caputo Viviana, Phelps Ian G, Stella Lorenzo, Worgan Lisa, Dempsey Jennifer C, Nguyen Alina, Leuzzi Vincenzo, Webster Richard, Pizzuti Antonio, Marvin Colby T, Ishak Gisele E, Ardern-Holmes Simone, Richmond Zara, Bamshad Michael J, Ortiz-Gonzalez Xilma R, Tartaglia Marco, Chopra Maya, Doherty Dan

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 syndromic neonatal encephalopathy characterized by profound developmental disability, severe hypotonia, seizures, diminished respiratory drive requiring mechanical ventilation, brain atrophy, dysgenesis of the corpus callosum, cerebellar vermis...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27040692
DOI: 10.1016/j.ajhg.2016.01.016
PMCID: PMC4833196

Genes

TBCK

Variants

Provenance

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Recessive Inactivating Mutations in TBCK, Encoding a Rab GTPase-Activating Protein, Cause Severe Infantile Syndromic Encephalopathy.PMID 27040692Read ↗

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