Table 2. Overview of the SCN1A mutations inherited pattern in variety phenotype (# cases)

Inherited pattern	SME			EE	PE & PEFS+			GEFS+ and/or FS			Unclassified	Unknown	Total
	SMEI	SMEB	SME(U)		PE	PEFS+		GE	GEFS+	FS+/FS
Inherited	59(5.8)	9(5.8)	12(4.3)	10(9.6)	10(52.6)	17(54.8)		2(22.2)	35(64.8)	4(30.8)	4(12.9)	1(5.6)	163(9.4)
De novo	608	77	51	33	7	9		4	2	2	15	5	813 (47.1)
Unknown	345	68	219	61	2	5		3	17	7	12	12	751 (43.5)
Total	1012	154	282	104	19	31		9	54	13	31	18	1727

          

Legend:

SMEI: severe myoclonic epilepsy of infancy or classical Dravet syndrome (DS). SMEB: SMEI borderline, which also included intractable childhood epilepsy with generalized tonic-clonic seizures (ICEGTC) and incomplete Dravet syndrome (IDS). SME (U): indicated the phenotype that was diagnosed to Dravet syndrome in the original articles, but lacked of sufficient clinical information to further classify into SMEI or SMEB. EE: epileptic encephalopathy, which included acute necrotizing encephalopathy (ANE), acute encephalopathy with biphasic seizures and late reduced diffusion (AESD), classical Dravet syndrome like or SMEI-like (DS-like), early onset epileptic encephalopathies (EOEE), epilepsy-aphasia, epilepsy-aphasia with febrile seizure plus, hemiconvulsions hemiplegia epilepsy (HHE), intractable epilepsy (IE), infantile spasms (IS), Lennox-Gastaut syndrome (LGS), LGS (late-onset), myoclonic astatic epilepsy (MAE), malignant migrating partial seizures in infancy (MMPSI), progressive myoclonic epilepsy (PME ), Rasmussen encephalitis (RE), severe idiopathic generalized epilepsy of infancy (SIGEI), and severe infantile multifocal epilepsy (SIMFE). PEFS+: partial epilepsy and febrile seizures plus, which also included cryptogenic focal epilepsy with febrile seizures (CFE&FS), temporal lobe epilepsy with febrile seizures (FS&TLE), and atypical multifocal DS lacks generalized seizures. PE: partial epilepsy, which included autosomal dominant nocturnal frontal lobe epilepsy (ANDFLE), acute encephalitis with refractory, repetitive partial seizures (AERRPS), cryptogenic focal epilepsy (CFE), familial hemiplegic migraine with benign occipital epilepsy (FHM+BOE), familial hemiplegic migraine with epilepsy (FHM+EP), focal epilepsy with malformations of cortical development (FE&MCDs), and Panayiotopoulos syndrome (PS). GE: generalized epilepsy, which included cryptogenic generalized epilepsy (CGE), juvenile absence epilepsy (JAE), juvenile myoclonic epilepsy (JME), and symptomatic generalized epilepsy (SGE). FS: febrile seizures. FS+: febrile seizures plus, cryptogenic generalized epilepsy with febrile seizures (CGE&FS) was also included. Partial genomic rearrangement included partial gene duplication/deletion and translocation. Whole gene duplication also included whole gene amplification.