Table legend

Legend to 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

AE

Acute encephalopathy

AERRPS

Acute encephalitis with refractory, repetitive partial seizures

AESD

Acute encephalopathy with biphasic seizures and late reduced diffusion

AET

Acute encephalopathy in children taking theophylline

ANE

Acute necrotizing encephalopathy

ASD

Autism spectrum disorder

BOE+FHM

Benign occipital epilepsy+ familial hemiplegic migraine

CFE

Cryptogenic focal epilepsy

CGE

Cryptogenic generalized epilepsy

EE

Epileptic encephalopathy

EFS+

Epilepsy with febrile seizures plus

EP

Epilepsy

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

GEFS+

Generalized epilepsy with febrile seizures plus

HHE

Hemiconvulsions hemiplegia epilepsy

HM

Hemiplegic migraine

ICEGTC

Intractable childhood epilepsy with generalized tonic-clonic seizures

IE

Intractable epilepsy

IS

Infantile spasms

JAE

Juvenile absence epilepsy

JME

Juvenile myoclonic epilepsy

LGS

Lennox-Gastaut syndrome

MAE

Myoclonic astatic epilepsy

MMPSI

Malignant migrating partial seizures of infancy

NIE

Neonatal-infantile epilepsy

PEFS+

Partial epilepsy with febrile seizures plus

PE

Partial epilepsy

PME

Progressive myoclonic epilepsy

PS

Panayiotopoulos syndrome

Rasmussen

Rasmussen encephalitis

SEHT

symptomatic epilepsy after head trauma

SFE

Symptomatic focal epilepsy

SGE

Symptomatic generalized epilepsy

SIGEI

Severe idiopathic generalized epilepsy of infancy

SIMFE

Severe infantile multifocal epilepsy

SMEB

SMEI borderline

SMEB-M

SMEI borderline without myoclonic seizures

SMEB-MA

SMEI borderline without myoclonic seizures and ataxia

SMEB-O

SMEI Borderline lacking more than 1 feature of SMEI

SMEB-SW

SMEI borderline without generalized spike wave

SME(late-onset)

Late-onset Severe myoclonic epilepsy of infancy

SMEI

Severe myoclonic epilepsy of infancy

SMEI-like

Severe myoclonic epilepsy of infancy like

SUDEP

Sudden unexpected death in epilepsy

NA

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

Unclassified

The epilepsy was not classified

Inheritance

De novo

Mutation was not observed in parents of the proband

Familial

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

Mosaic

This mutation was observed in only part of cells of one of the parents

NA

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

Asympt

Asymptomatic

P

Penetrance: the number of affected individuals with the mutation/total number of individuals with the mutation

Consequence

The consequence of mutations, e.g., the functional consequence of known, polarity/charge changes and Grantham D value for missense mutations.

Polarity/charge

Hydrophobicity and polarity (polarity/charge) are expressed as: “N”, nonpolar; “P”, polar; “+”, positive charge; “–”, negative charge; “O”, no charge.

Number in the parentheses

Grantham’s D value：Grantham’s difference in amino acids.