Table legend

Legend to Inherited mutation Tables

Nomenclature are according to the standard mutation nomenclature recommendations (http://www.hgvs.org/mutnomen/). The numbering for the mutations refers to the position relative to the start codon (ATG) of the full-length SCN1A isoform sequence (GenBank accession number AB093548).The amino acid numbering is illustrated in detail in the “About” section of the database.

Phenotype

ADNFLE

Autosomal dominant nocturnal frontal lobe epilepsy

AGTCS

Afebrile generalized tonic-clonic seizures

ASD

Autism spectrum disorder

BOE+FHM

Benign occipital epilepsy+ familial hemiplegic migraine

CGE

Cryptogenic generalized epilepsy

EA with FS+

Epilepsy-aphasia with FS+

EE

Epileptic encephalopathy

EP+FHM

Epilepsy + familial hemiplegic migraine

FE(MCDs)

Focal epilepsy(malformations of cortical development)

FHM

Familial hemiplegic migraine

FHM + ERDB

Familial hemiplegic migraine + elicited repetitive daily blindness

FS

Febrile seizures

FS+

Febrile seizures plus

GC

Generalized convulsions

GEFS+

Generalized epilepsy with febrile seizures plus

IE

Intractable epilepsy

IGE

Idiopathic generalized epilepsy

IME+ASD

Intractable myoclonic epilepsy and ASD

JME

Juvenile myoclonic epilepsy

MAE

Myoclonic astatic epilepsy

NIE

Neonatal-infantile epilepsy

PEFS+

Partial epilepsy with febrile seizures plus

PS

Panayiotopoulos syndrome

Rasmussen

Rasmussen encephalitis

SEHT

Symptomatic epilepsy after head trauma

SIMFE

Severe infantile multifocal epilepsy

SMEB

SMEI borderline

SMEI

Severe myoclonic epilepsy of infancy

NA

Not available: the phenotype of the proband could not be analyzed or specify

Unclassified

The epilepsy was not classified

Inheritance

Familial

A familial case is defined by the existence of 2 or more family members carrying the same SCN1A mutation.

Mosaic(mosaic level)

Mosaic mutation level was quantitively determined, with heterozygous mutation was set as 50%.

NA

Not available: family members of the proband could not be analyzed or specify

No symptom

No symptomatic

P

Penetrance: the number of affected individuals with the mutation/total number of individuals with the mutation.The mosaic carriers were excluded considering that individuals with low level of mutation could be asymptomatic.