Exome & General Genetics

Session # 986T

A novel de novo alteration in SLC12A6 in a patient with early onset severe progressive sensorimotor polyneuropathy and abnormal EEG

  • We identified the second patient with a monoallelic SLC12A6 alteration and neuropathy through exome sequencing.
  • Combining exome sequencing with RNA-sequencing or other complementary methods in patients with monoallelic SLC12A6 alterations may shed a light on the full clinical and mutational spectrum of the SLC12A6 gene.

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