Episodic ataxia
February 10 2016
LOSS OF MOTOR CONTROL Breda Genetics panel testing recommended for this condition (EXOME PANEL): Episodic ataxias and their differential diagnosis (ARG1, ASL, ASS1, BCKDHA, BCKDH, CACNA1A, CACNB4, CPS1, DBT, DLD, IVD, KCNA1, KCNQ2, OTC, PDHA1, PNKD, SLC6A19, SNC2A, SLC1A3) Clinical variability Episodic ataxia (EA) is an inherited disease that leads to occasional loss of motor control (i.e. poor coordination