Impaired sodium-potassium-chloride cotransporter 1 results in neurologic and secretory defects

Takeaway

  • Biallelic loss-of-function variants in the solute carrier family 12 member 2 (SLC12A2) gene lead to deficiency in sodium-potassium-chloride cotransporter 1 (NKCC1), resulting in a wide range of neurologic and secretory impairments.

Why this matters

    The study helps to establish variants in genes that cause human disease and adds data regarding neurologic phenotypes of SLC12A2.