childhood epilepsy gene list

A selection of the genes currently included in Amplexa's Childhood Epilepsy panel. Panels are updated frequently. For a current list of genes contact Amplexa Genetics.


Gene

OMIM

Phenotype

ADSL

608222

AD EMR

ALDH7A1

107323

Pyridoxine-Dependent Epilepsy

ALG13

300776

EE

ARHGEF9

300429

EE

ARX

300382

West Syndrome

ATP1A2

182340

FHM

ATP1A3

182350

AHC

ATRX

300032

X-Linked EMR

CACNA1A

601011

EE, FHM with Ataxia

CACNA1D

114206

Febrile Seizures, ASD

CACNA1H

607904

Childhood Absence Seizures, GGE

CACNB4

601949

Episodic Ataxia, Juvenile Myoclonic Epilepsy, GGE 

CDKL5

300203

EE

CHD2

602119

EE

CHRNA2

118502

ADNFLE

CHRNA4

118504

ADNFLE

CHRNB2

118507

ADNFLE

CLCN2

600570

GGE

CNKSR2

300724

LKS, ESES

CPA6

609562

FFE

DEPDC5

614191

Focal Epilepsy, FFEVF

DNM1

602377

EE

EEF1A2

602959

EIEE, AD MR

FASN

600212

ID, LGS, EE

FOXG1

164874

West Syndrome

GABBR1

603540

EE

GABBR2

607340

EE

GABRA1

137160

Dravet

GABRA5

137142

EE

GABRB3

137192

EE, Febrile Seizures, GEFS+

GABRD

137163

Dravet, GEFS+

GABRG2

137164

Dravet, GEFS+

GAMT

601240

Creatine Deficiency

GATM

602360

Creatine Deficiency

GNAO1

139311

EE

GRIN1

138249

EE

GRIN2A

138253

Focal Epilepsy, ESES

GRIN2B

138252

West Syndrome

GRIN2D

602717

 

HCN1

602780

EE

HDAC4

605314

EE

HNRNPU

602869

EE

HUWE1

300697

EMR (LKS like phenotype)

IQSEC2

300522

EE

KCNA2

176262

EE

KCNB1

600397

EIEE

KCND2

605410

Seizures, Autism

KCNH5

605716

EE

KCNQ2

602235

BFNC, EE

KCNQ3

602232

BFNC

KCNT1

608167

Focal Epilepsy

KCTD7

611725

EE

KIAA2022

300524

X-Linked MR

LGI1

604619

Focal Epilepsy, ADLTE

MECP2

300005

EE, Rett Syndrome

MEF2C

600662

West Syndrome

MTOR

601231

EE

NPRL2

607072

Focal Epilepsy, FFEVF

NPRL3

600928

Focal Epilepsy, FFEVF

NRXN1

600565

Pitt-Hopkins-like Syndrome

PCDH19

300460

EFMR

PIGA

311770

X-Linked EE

PIGO

614730

GPI Anchor Deficiency

PIGT

610272

GPI Anchor Deficiency

PIK3AP1

607942

West Syndrome

PIK3R2

603157

MPPHS

PLCB1

607120

MMPSI

PNKP

605610

NEE/OS

PNPO

603287

Pyridoxine-Dependent Epilepsy

POLG

174763

OCCIP, Alper’s Syndrome, CSE, SV Tox

PRRT2

614386

PKD, PKD+BFIS, BFIS

PURA

600473

EE

RELN

600514

ADLTE

SCN1A

182389

Dravet, FHM, GEFS+ MMPSI

SCN1B

600235

Dravet, GEFS+

SCN2A

182390

BFNC, EE

SCN8A

600702

EE

 

 

 

SLC12A5

606726

EIEE, GGE

SLC13A5

608305

EIEE

SLC1A2

600300

EE

SLC25A22

609302

EE

SLC2A1

138140

EOAE, GGE, PED

SLC35A2

314375

EE

SLC35A3

605632

EE

SLC6A1

137165

EE, MAE/Doose Syndrome

SLC6A8

300036

Creatine Deficiency

SLC9A6

300231

ID, Epilepsy

SMARCA2

600014

NBS

SPTAN1

182810

West Syndrome

ST3GAL3

606494

EIEE, AR MR

STX1B

601485

GEFS+

STXBP1

602926

EE

SYNGAP1

603384

EE

SZT2

615463

EIEE

TBC1D24

613577

EE, MMPSI

TCF4

602272

Pitt Hopkins Syndrome

UBE3A

601623

Angelman Syndrome

WWOX

605131

EIEE

ZDHHC9

300646

X-Linked ID, Rolandic Epilepsy



List of abbreviations:

ADLTE: Autosomal Dominant Lateral Temporal lobe Epilepsy
ADNFLE: Autosomal Dominant Nocturnal Frontal lobe Epilepsy
AHC: Alternating Hemiplegia of Childhood
AD: Autosomal Dominant
BFIS: Benign Familial Infantile Seizures
BFNC: Benign Familial Neonatal Convulsions
CSE: Convulsive Status Epilepticus
CSWS: Continuous spike-and-waves during slow sleep
EE: Epileptic Encephalopathy
EFMR: Epilepsy with Mental Retardation limited to Females
EIEE: Early Infantile Epileptic Encephalopathy
EMR: Epilepsy with Mental Retardation
EOAE: Early Onset Absence Epilepsy
ESES: Electrical Status Epilepticus during Sleep
FFE: Familial Focal Epilepsy
FFEVF: Familial Focal Epilepsy with Variable Foci
FHM: Familial Hemiplegic Migraine

GEFS+: Genetic Generalized Epilepsy with Febrile Seizures plus
GGE: Genetic Generalized Epilepsy
GPI: Glycosylphosphatidylinositol
ICCA: PKD combined with infantile seizures
ID: Intellectual Disability
LGS: Lennox–Gastaut Syndrome
LKS: Landau–Kleffner Syndrome
MAE: Myoclonic-Astatic Epilepsy

MPPHS: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus Syndrome
MMPSI: Malignant Migrating Partial Seizures of Infancy
NBS: Nicolaides-Baraitser Syndrome
NEE: Neonatal Epileptic Encephalopathy
OCCIP: Occipital Seizures
OS: Ohtahara Syndrome
PED: Paroxysmal Exertional Dyskinesia
PKD: Paroxysmal Kinesigenic Dyskinesia
SV Tox: Sodium Valporate induced liver Toxicity
West = West Syndrome