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.
Authors: Mari Rossi; Katalin Scherer; Maureen Galindo; Kelly Radtke; Zöe Powis; Deepali Shinde