TABLE 1.

Clinical features associated with six identified in-frame deletion and one truncation variants in SCN1A.

Mutation	Mutation position	Age at FS/aFS onset	Seizure type	Inherited	Diagnosis	EEG	Mental retardation	AEDs	PROVEAN
c.383 + 1A > G/p.S128_F130del	DIS1 (Intron 2)	NA	Myo, Tonic, Atonic, CPS, GTCS	De novo	LGS	GSW, FSW	Severe learning disability	VPA+LTG+PT(∧)	D
c.602 + 1G > A/p.T160_Y202del	DIS2-S3 (Exon 4)	8 m/2 years	sGTCS, CPS	De novo	DS	FSW	Normal	VPA+TPM(↓)	D
c.909A > G/p.T303_R322del	DIS5-S6 (Exon 6)	2 years/−	GTCS	De novo	FS+	NA	Normal	NA	D
c.1200_1202delGAT/p.M400del	DIS6 (Exon 9)	8 m/−	GTCS, CPS	De novo	DS	GSW, FSW	Speech defect	VPA+LEV(↓)	D
c.4284 + 2T > C/p.V1335_V1428del	DIIIS5-S6 (Exon 21)	6 m/6 m	Myo, CPS, sGTCS	Paternal	DS	GSW, FSW	Normal	VPA+TPM(∧)	D
c.5313_5315delCAT/p.I1772del	DIVS6 (Exon 26)	7 m/3 years	GTCS, CPS	De novo	PEFS+	Normal	Moderate	VPA+CNZ(↓)	D
c.4853-25T > A/p.M1619Ifs*7	DIVS3 (Exon 26)	18 m/5 years	GTCS, CPS	Maternal	PEFS+	NA	NA	NA	D

CPS, complex partial seizures; GTCS, generalized tonic-clonic seizures; Myo, myoclonic seizures; Tonic, tonic seizure; Atonic, atonic seizures; LGS, Lennox-Gastaut syndrome; GSW, generalized spike waves; FSW, focal spike waves; NA, not available; VPA, valproic acid; LTG, lamotrigine; TPM, topiramate; LEV, levetiracetam; CNZ, clonazepam; D, deleterious. (∧), seizure-free; (↓), seizure remission.