Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.

doi:10.1016/j.ajhg.2015.02.012

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Article

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.

American journal of human genetics - 2 Apr 2015

Simons Cas, Griffin Laurie B, Helman Guy, Golas Gretchen, Pizzino Amy, Bloom Miriam, Murphy Jennifer L P, Crawford Joanna, Evans Sarah H, Topper Scott, Whitehead Matthew T, Schreiber John M, Chapman Kimberly A, Tifft Cyndi, Lu Katrina B, Gamper Howard, Shigematsu Megumi, Taft Ryan J, Antonellis Anthony, Hou Ya-Ming, Vanderver Adeline

Abstract excerpt

Mutations in genes encoding aminoacyl-tRNA synthetases are known to cause leukodystrophies and genetic leukoencephalopathies-heritable disorders that result in white matter abnormalities in the central nervous system. Here we report three individuals (two siblings and an unrelated individual) with severe infantile epileptic encephalopathy, clubfoot, absent deep tendon reflexes, extrapyramidal symptoms, and...

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PMID: 25817015
DOI: 10.1016/j.ajhg.2015.02.012
PMCID: PMC4385183

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