Table 1.

Clinical characteristics for familial/sporadic PxD cases studied and observed PRRT2 mutations

Patient	PxD	Sex	AaO (years)	Inducer	Dystonia/chorea	Duration	Frequency	Localisation	EEG	Migraine	Medication	PRRT2 mutation	Other genes tested
Fam. 1, II-2	PKD	F	14	Movement change	D+C	7–30 s	Daily	Left sided	N/A	–	None	c.649dupC p.R217PfsX7
Fam. 1, II-3	PKD	M	15	Movement change	D+C	10 s	10× per day	Left sided	N/A	–	CBZ: good effect	c.649dupC p.R217PfsX7	GLUT1
Fam. 2, IV-2	PKD	M	8	Sudden movement	D	5–15 s	1–2× per day	Left sided	N/A	–	CBZ: good effect	None
Fam. 2, III-1	PKD	F	10	Sudden movement	D	10–15 s	Weekly	Right sided	N/A	–	DPhT: moderate effect	None
Fam. 2, II-4	PKD	M	10	Sudden movement	D	10 s	N/A	Right arm	N/A	–	None	None
Fam. 3, III-1	PKD	M	15	Sudden movement	D	10 s	Daily	Left leg	Epilepsy	–	CBZ: good effect	c.649C>T p.R217X	GLUT1
Fam. 3, II-4	PKD	M	15	Sudden movement	D	10–15 s	3× per week	Left sided	Normal	–	None	c.649C>T p.R217X
1, Sporadic	PKD	F	3	Playing	D	Minutes	Daily	Right sided	Normal	–	None	No DNA
2, Sporadic	PKD	F	0	Movement change	D+C	1.5 min	Several per day	Generalized	Normal	–	None	c.3698T>C in 3′UTR	GLUT1
3, Sporadic	PKD	F	51	Walking	C	1 s	2–10× per day	Both legs	Normal	–	CBZ: good effect	None	GLUT1, MR-1
4, Sporadic	PKD	M	13	Sudden movement	D	10 s	1–2× per day	Right sided	N/A	–	CBZ: good effect	c.649delC p.R217PfsX12
5, Sporadic	PKD	M	14	Start of movement	D+C	15 s	10× per day	Alternating sides	N/A	–	CBZ: good effect	None	GLUT1, MR-1
6, Sporadic	PKD	M	11	Movement change	D	10 s –1 min	1–2× per day	Generalized	N/A	–	CBZ: good effect	c.649dupC p.R217PfsX7
7, Sporadic	PKD	F	29	Small changes of movement	C	Seconds–minutes	Several per day	Left arm	Non-epileptiform PT abnormalities	Yes	TBZ: moderate effect	None	GLUT1, MR-1
8, Sporadic	PKD	M	12	Sudden movement	D	10–20 s	5× per day	Right sided	N/A	–	None	None	GLUT1, MR-1
9, Sporadic	PKD	M	6	N/A	D	<1 min	Daily	Generalized	Normal	Yes	DPK: good effect	No DNA
10, Sporadic	PNKD	F	0	No clear inducers	D+C	Minutes	N/A	Generalized	Normal	Yes	CBZ, BDZ, DPK, DPhT: moderate effect	None	MR-1
11, Sporadic	PNKD	F	0	Physical exercise, cold	D	Several hours	Daily–weekly	Generalized	Suspect for epilepsy	–	BDZs, unknown effect	None	MR-1
12, Sporadic	PNKD	F	9	Fatigue	D	Minutes to hours	Several a month	Right sided	N/A	Yes	DPK, lot of side effects	None	MR-1
13, Sporadic	PNKD	M	10	No clear inducers	D	30 min	Daily	Right sided	Normal	–	Anti-PD medication, CBZ, BDZ: no effect	None	MR-1
14, Sporadic	PED	F	16	Prolonged exercise	D	Up to 3 h	7× per quarter	Right arm	PED-like	–	Clobazam	None	GLUT1, MR-1

AaO age at onset, PT pariotemporal, CBZ carbamazepine, TBZ tetrabenazide, DPhT diphantoine, DPK depakine, PD Parkinsons disease