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Article

Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.

American journal of human genetics - 3 Aug 2017

Milev Miroslav P, Grout Megan E, Saint-Dic Djenann, Cheng Yong-Han Hank, Glass Ian A, Hale Christopher J, Hanna David S, Dorschner Michael O, Prematilake Keshika, Shaag Avraham, Elpeleg Orly, Sacher Michael, Doherty Dan, Edvardson Simon

Abstract excerpt

Progressive childhood encephalopathy is an etiologically heterogeneous condition characterized by progressive central nervous system dysfunction in association with a broad range of morbidity and mortality. The causes of encephalopathy can be either non-genetic or genetic. Identifying the genetic causes and dissecting the underlying mechanisms are critical to understanding brain development and improving...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28777934
DOI: 10.1016/j.ajhg.2017.07.006
PMCID: PMC5544387

Genes

TRAPPC12

Variants

Provenance

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Mutations in TRAPPC12 Manifest in Progressive Childhood Encephalopathy and Golgi Dysfunction.PMID 28777934Read ↗

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A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly, epilepsy and autistic features.Semantic proximity Read ↗

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