A novel SCN9A gene variant identified in a Chinese girl with paroxysmal extreme pain disorder (PEPD): a rare case report

Table 1 Differential diagnosis of PEPD and congenital harlequin syndrome.

	PEPD	Harlequin syndrome
Age	Neonate or early infancy	Above one year old (After walking)
Non-epileptic tonic seizures	Yes	No
Pain or panic	Yes	No
Location of the skin flush	Mostly on perineum and lower limbs	Mainly on facial and body cadres
Bradycardia and other autonomic nervous dysfunction	Yes	No
Causes	Defecation and other perineal stimulation, eating, etc.	Temperature, exercise, emotion, etc.

ISSN: 1755-8794