Table 2.

Patients' phenotype, molecular features, and functional results.

	Patient 1	Patient 2	Patient 3	Patient 4	Patient 5	Patient 6	Patient 7
Previous publication	Berecki et al. (17)	Wolff et al. (12)	Wolff et al. (12)	Wolff et al. (12)	Wolff et al. (12)	Wolff et al.	Ours
cDNA/protein change	R853Q	K1933M	R1882P	c.698-1G>T	W281*	S863F	V911A
Location in protein	DII S4	C-terminus	C-terminus	DI S4	DI S5–S6	DII S4	DII S5-6
Functional change	LOF	GOF	/	/	/	LOF	GOF
Phenotype	WS	DEE	DEE	DEE	DEE	BNIF	OS
Seizure onset	13 m	4 y	4 m	4 y 6 m	4 y 6 m	5 d	2 d
Seizure type	S,M	F, GTCS, Aab	T, C	F	F	GTCS SE F	C
MRI	N	N	N	N	N	N	N
EEG change	HA → MF spikes → ESES	MF → ESES	MF → ESES	F spikes → MF → ESES	MF → ESES	NA → MF → ESES	BS → MF → ESES
Effective AEDs	VGB, PB, CLB	ST, VPA, TPM, CLB, CS	LEV	TPM	ST	OXC-ST	OXC → M, NZP
Non-effective AEDs	PB, VPA, LTG, KD	LTG, LCM, CBZ	PB, VPA ST KD, LTG	/	/	/	/
Typical features	Movement disorder	ASD, ataxia	ASD, regression aggression	Mi-ID	M-ID	Attention deficit disorder	S-ID, ASD

Phenotype: WS, West syndrome; OS, Ohatahara syndrome.

Seizure type: S, spasms; M, myoclonus; F, focal; GTCS, generalized tonic-clonic seizure; Aab, atypical absence; T, tonic; C, clonic; SE, status epilepticus.

EEG change: MF, mutilfocal; HA, hypsarrhythmia; BS, burst suppression.

Typical features: ASD, autism spectrum disorder; Mi-ID, mild intellectual disability; M-ID, moderate intellectual disability; S-ID, severe intellectual disability; MF, multifocal.

Drugs: CBZ, carbamazepine; CLB, clobazam; KD, ketogenic diet; LCM, lacosamide; LTG, lamotrigine; LEV, levetiracetam; OXC, oxcarbazepine; PB, phenobarbital; PHT, phenytoin; ST, sulthiame; TPM, topiramate; VGB, vigabatrin; M, methylprednisolone; NZP, nitrazepam.