Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report

Table 1 Clinical data of patients with epilepsy carrying PCDH19 mutations

Patient number	Male patient 1	Female patient 2	Female patient 3	Male patient (Terracciano et al. 2016) [14]
PCDH19 mutation	c.1508_1509insT	c.1681C > T	c.918C > G	c.918C > G
	p.Thr504HisfsTer19	p.Pro561Ser	p.Tyr306Ter	p.Tyr306*
Mutation type	Frameshift mutation	Missense mutation	Nonsense mutation	Nonsense mutation
Sex	Male	Female	Female	Male
Present age	2 y 3 m	2 y 10 m	3 y 3 m	4 y
Birth weight	3.0 kg	3.3 kg	3.18 kg	Unknown
Age at onset	7 m	1 y 2 m	1 y 8 m	9 m
Type of seizures at onset	TS	TS	GTCS	Focal with SG
Cluster occurrence	Yes	Yes	Yes	Yes
Fever sensitivity	No	Yes	No	Yes
Status epilepticus	No	No	No	Yes
EEG	Abnormal	Normal	Abnormal	Normal
MRI	Normal	Normal	Normal	Normal
Intellectual disability	Yes	No	No	Borderline
Psychiatric symptoms	No	No	No	No
Behavioural disturbance	Yes	No	No	Yes
Current AED	Phenobarbital, valproate, oxcarbazepine	Topiramate	Levetiracetam	Valproic acid
Persistence of seizures with AED	Yes	No	No	No
Transmission	De novo	De novo	Paternal inheritance	De novo

ISSN: 1471-2350