Genetic analysis of four cases of Poirier Bienvenu neurodevelopmental syndrome associated with CSNK2B variant

BMC Medical Genomics

Table 1 Genotypes and clinical phenotypes of four children with epilepsy caused by CNSK2B gene variations

	Gender	Epilepsy onset time	Age (Year)	Clinical phenotype of epilepsy	Intelligent development	Motor development	Language development	Growth and development	Characteristics of video electroencephalogram	Variations	Pathogenic	Treatment	follow-up
1	female	0.9	3	GTCS	moderate	mild	moderate	normal	Bilateral frontal pole, frontal and anterior temporal region sharp slow wave emission	c.175+1G> A	PVS1+PS2+PM2_Supporting	LEV, OXC, CZP	Still having 2-3 episodes per day
2	female	3.9	1	JME	mild	normal	mild	backward	Widespread spike slow wave bursts	c.73–2 A> G	PVS1+PS2+PM2_Supporting	VPA	No attack
2	female	3.9	1	AS	mild	normal	mild	backward	Widespread spike slow wave bursts	c.73–2 A> G	PVS1+PS2+PM2_Supporting	VPA	No attack
3	male	0.4	4.3	GTCS	Moderate	mild	moderate	normal	Widespread spike and slow wave distribution mainly in bilateral temporal regions	c.291+1G> A	PVS1+PS2+PM2_Supporting	VPA	No attack
4	female	1	5	GTCS	mild	normal	moderate	normal	Bilateral frontal pole frontal and frontal line area spike slow wave emission	c.481delA	PVS1+PS2+PM2_Supporting	VPA	No attack

Abbreviations: GTCS generalized tonic-clonic seizure, JME positive myoclonic seizure, AS absence seizure, LEV levetiracetam, OXC oxcarbazepine, CZP clonazepam, VPA sodium valproate

ISSN: 1755-8794