Exonic deletion of SLC9A9 in autism with epilepsy

@inproceedings{Cardon2016ExonicDO,
  title={Exonic deletion of SLC9A9 in autism with epilepsy},
  author={Meeta Cardon and Karen D. Evankovich and J Lloyd Holder},
  booktitle={Neurology. Genetics},
  year={2016}
}
Genes encoding proteins critical for intracellular vesicular transport are an emerging area of importance for neurologists. In particular, proteins that create and maintain the correct compartmental pH, such as the endosomal Na(+)/H(+) exchangers (NHEs), have been implicated in a wide range of human diseases, including cardiovascular, inflammatory bowel, renal, and neurologic disorders, which demonstrates the critical cellular function of these proteins.(1-3) Two NHEs, NHE6 and NHE9, have been… CONTINUE READING
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