Table 2.

Comparison of clinical features reported with the CACNA1S R897S mutation.

	This patient	Chabrier et al (17)
Age at Onset	1 year	1 year
Age at Diagnosis	4 years	2 years
Perinatal period	IUGR*	Neonatal hypotonia
Muscle presentation	Predominantly lower limb Persistent hypertonia	Global hypotonia (lower limbs > than upper)
Maximum frequency of attacks	Daily	Daily
Temporal relation of attacks	Morning	Evening
Initial hypokalemia (with attack)	3.0 mmol/L	3.1 mmol/L
Additional clinical features	Scoliosis
	Pes Cavus
	Toe-walking

^*Intrauterine Growth Restriction