A new splice-site mutation in SLC12A6 causing Andermann syndrome with motor neuronopathy

J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1123-1125. doi: 10.1136/jnnp-2017-317319. Epub 2017 Dec 21.
No abstract available

Keywords: mental retardation; motor neuron disease; neuropathy.

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Agenesis of Corpus Callosum / genetics*
  • Child
  • Humans
  • Male
  • Motor Neuron Disease / genetics*
  • Mutation*
  • Peripheral Nervous System Diseases / genetics*
  • Symporters / genetics*

Substances

  • SLC12A6 protein, human
  • Symporters

Supplementary concepts

  • Corpus callosum agenesis neuronopathy