. Author manuscript; available in PMC: 2018 Mar 14.

Published in final edited form as: Mol Psychiatry. 2017 Sep 12;23(6):1487–1495. doi: 10.1038/mp.2017.179

Table 1.

Mutations at PNKD and diseases

Mutation	Exon location	Isoforms impacted	Phenotype	Reference
A7V (het^a)	1	long and short	Paroxysmal nonkinesigenic dyskinesia	^{15, 47–54}
A9V (het)	1	long and short	Paroxysmal nonkinesigenic dyskinesia	^{15, 48–50, 55–57}
A33P (het)	2	long and short	Paroxysmal nonkinesigenic dyskinesia and cerebellar ataxia	¹⁷
G89R	5	long and medium	Mostly gastro-intestinal dysmotility but a couple of patients exhibiting movement disorders (ataxia, dyskinesia)	⁵⁹
P341Rfs*2 (het)	12	long and medium	Familial hemiplegic migraine	⁶⁰

heterozygous mutation