List of diseases covered by
Epilepsy NGS panel

Gene Condition
AARS Epileptic encephalopathy, early infantile, 29;
Charcot-Marie-Tooth disease, axonal, type 2N
ABAT GABA-transaminase deficiency
ADAR Aicardi-Goutieres syndrome 6
ADSL Adenylosuccinase deficiency
ACY1 Aminoacylase 1 deficiency
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency
ALDH7A1 Epilepsy, pyridoxine-dependent
ALG3 Congenital disorder of glycosylation, type Id
ALG13 Epileptic encephalopathy, early infantile, 36;
ARHGEF9 Epileptic encephalopathy, early infantile, 8
ARHGEF15 Early infantile epileptic encephalopathy
ARX Epileptic encephalopathy, early infantile, 1;
Lissencephaly, X-linked 2;
Mental retardation, X-linked 29 and others; Partington syndrome;
Proud syndrome
ASAH1 Farber lipogranulomatosis;
Spinal muscular atrophy with progressive myoclonic epilepsy
ATP1A2 Migraine, familial basilar;
Alternating hemiplegia of childhood 1
ATP1A3 CAPOS syndrome; Dystonia-12;
Alternating hemiplegia of childhood 2
ATP6AP2 Mental retardation, X-linked, syndromic, Hedera type;
Parkinsonism with spasticity, X-linked
ATRX Mental retardation-hypotonic facies syndrome, X-linked;
Alpha-thalassemia/mental retardation syndrome
BRAT1 Rigidity and multifocal seizure syndrome, lethal neonatal
CACNA1A Epileptic encephalopathy, early infantile, 42;
Episodic ataxia, type 2;
Migraine, familial hemiplegic, 1; Spinocerebellar ataxia 6
CACNA1D Primary aldosteronism, seizures, and neurologic abnormalities;
Sinoatrial node dysfunction and deafness
CACNA2D2 Early infantile epileptic encephalopathy
CACNA1H Epilepsy, childhood absence, susceptibility to, 6;
Hyperaldosteronism, familial, type IV
CACNB4 Episodic ataxia, type 5;
Epilepsy, idiopathic generalized, susceptibility to, 9
CASK FG syndrome 4;
Mental retardation, with or without nystagmus
CDC42 Takenouchi-Kosaki syndrome
CDKL5 Epileptic encephalopathy, early infantile, 2
CERS1 Epilepsy, progressive myoclonic, 8
CHD2 Epileptic encephalopathy, childhood-onset
CHRNA2 Epilepsy, nocturnal frontal lobe, type 4
CHRNA7 Epilepsy, idiopathic generalized 7
CHRNA4 Epilepsy, nocturnal frontal lobe, 1
CHRNB2 Epilepsy, nocturnal frontal lobe, 3
CLCN2 Leukoencephalopathy with ataxia;
Epilepsy, idiopathic generalized, susceptibility to, 11
CLN3 Ceroid lipofuscinosis, neuronal, 3
CLN8 Ceroid lipofuscinosis, neuronal, 8;
Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant
CNTN2 Epilepsy, myoclonic, familial adult, 5
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome
C12orf57 Temtamy syndrome
CPA6 Epilepsy, familial temporal lobe, 5; Febrile seizures, familial, 11
CRH Autosomal dominant nocturnal frontal lobe epilepsy
CSTB Epilepsy, progressive myoclonic 1A
CTSF Ceroid lipofuscinosis, neuronal, 13, Kufs type
DEPDC5 Epilepsy, familial focal, with variable foci 1
DHFR Megaloblastic anemia due to dihydrofolate reductase deficiency
DNAJC5 Ceroid lipofuscinosis, neuronal, 4, Parry type
DNM1 Epileptic encephalopathy, early infantile, 31
DNM1L Encephalopathy, lethal,
due to defective mitochondrial peroxisomal fission 1
DOCK7 Epileptic encephalopathy, early infantile, 23
DYRK1A Mental retardation, autosomal dominant 7
EEF1A2 Epileptic encephalopathy, early infantile, 33;
Mental retardation, autosomal dominant 38
EFHC1 Epilepsy, juvenile absence, susceptibility to, 1;
Myoclonic epilepsy, juvenile, susceptibility to, 1
EPM2A Epilepsy, progressive myoclonic 2A
FGF12 Epileptic encephalopathy, early infantile, 47
FLNA FG syndrome 2; Cardiac valvular dysplasia, X-linked;
Congenital short bowel syndrome; Frontometaphyseal dysplasia 1;
Heterotopia, periventricular; Melnick-Needles syndrome;
Otopalatodigital syndrome, type I; Otopalatodigital syndrome, type II;
Terminal osseous dysplasia
FOLR1 Neurodegeneration due to cerebral folate transport deficiency
FOXG1 Rett syndrome, congenital variant
GABBR2 Epileptic encephalopathy, early infantile, 59;
Neurodevelopmental disorder with poor language and loss of hand skills
GABRA1 Epileptic encephalopathy, early infantile, 19;
Epilepsy, childhood absence, susceptibility to, 4
GABRB1 Epileptic encephalopathy, early infantile, 45
GABRB3 Epileptic encephalopathy, early infantile, 43;
Epilepsy, childhood absence, susceptibility to, 5
GABRD Epilepsy, idiopathic generalized, 10
GABRG2 Epilepsy, generalized, with febrile seizures plus, type 3;
Epilepsy, childhood absence, susceptibility to, 2
GAMT Cerebral creatine deficiency syndrome 2
GATM Cerebral creatine deficiency syndrome 3
GLDC Glycine encephalopathy
GNAO1 Epileptic encephalopathy, early infantile, 17;
Neurodevelopmental disorder with involuntary movements
GOSR2 Epilepsy, progressive myoclonic 6;
GPHN Molybdenum cofactor deficiency C
GRIN1 Neurodevelopmental disorder with or without hyperkinetic
movements and seizures, autosomal dominant;
Neurodevelopmental disorder with or without hyperkinetic
movements and seizures, autosomal recessive
GRIN2A Epilepsy, focal, with speech disorder and with or
without mental retardation
GRIN2B Epileptic encephalopathy, early infantile, 27;
Mental retardation, autosomal dominant 6
GRIN2D Epileptic encephalopathy, early infantile, 46
HCN1 Epileptic encephalopathy, early infantile, 24
HNRNPU Epileptic encephalopathy, early infantile, 54
HUWE1 Mental retardation, X-linked syndromic, Turner type
IER3IP1 Microcephaly, epilepsy, and diabetes syndrome
ITPA Epileptic encephalopathy, early infantile, 35
IQSEC2 Mental retardation, X-linked 1/78
KANSL1 Koolen-De Vries syndrome
KCNA1 Episodic ataxia/myokymia syndrome
KCNA2 Epileptic encephalopathy, early infantile, 32
KCNB1 Epileptic encephalopathy, early infantile, 26
KCNC1 Epilepsy, progressive myoclonic 7
KCNH1 Temple-Baraitser syndrome; Zimmermann-Laband syndrome 1
KCNJ10 Enlarged vestibular aqueduct, digenic; SESAME syndrome
KCNMA1 Paroxysmal nonkinesigenic dyskinesia, 3,
with or without generalized epilepsy;
Cerebellar atrophy, developmental delay, and seizures
KCNQ2 Epileptic encephalopathy, early infantile, 7;
Seizures, benign neonatal, 1
KCNQ3 Seizures, benign neonatal, 2
KCNT1 Epilepsy, nocturnal frontal lobe, 5;
Epileptic encephalopathy, early infantile, 14
KCTD7 Epilepsy, progressive myoclonic 3, with or
without intracellular inclusions
KIAA2022 Mental retardation, X-linked 98
KIF1A Mental retardation, autosomal dominant 9;
Neuropathy, hereditary sensory, type IIC;
Spastic paraplegia 30, autosomal recessive
KIF5C Cortical dysplasia, complex,
with other brain malformations 2
LGI1 Epilepsy, familial temporal lobe, 1
LIAS Hyperglycinemia, lactic acidosis, and seizures
MBD5 Mental retardation, autosomal dominant 1
MCCC1 3-Methylcrotonyl-CoA carboxylase 1 deficiency
MDH2 Epileptic encephalopathy, early infantile, 51
MECP2 Encephalopathy, neonatal severe;
Mental retardation, X-linked syndromic, Lubs type;
Mental retardation, X-linked, syndromic 13; Rett syndrome
MEF2C Mental retardation, stereotypic movements, epilepsy,
and/or cerebral malformations
MFSD8 Ceroid lipofuscinosis, neuronal, 7;
Macular dystrophy with central cone involvement
MOCS1 Molybdenum cofactor deficiency A
MOCS2 Molybdenum cofactor deficiency B
MTOR Smith-Kingsmore syndrome
NACC1 Neurodevelopmental disorder with epilepsy, cataracts,
feeding difficulties, and delayed brain myelination
NECAP1 Epileptic encephalopathy, early infantile, 21
NEXMIF Mental retardation, X-linked 98
NGLY1 Congenital disorder of deglycosylation
NHLRC1 Epilepsy, progressive myoclonic 2B
NOL3 Myoclonus, familial cortical
NPRL2 Epilepsy, familial focal, with variable foci 2
NR2F1 Bosch-Boonstra-Schaaf optic atrophy syndrome
NRXN1 Pitt-Hopkins-like syndrome 2
PCDH19 Epileptic encephalopathy, early infantile, 9
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIGA Multiple congenital anomalies-hypotonia-seizures syndrome 2
PIGN Multiple congenital anomalies-hypotonia-seizures syndrome 1
PIGO Hyperphosphatasia with mental retardation syndrome 2
PIGT Multiple congenital anomalies-hypotonia-seizures syndrome 3
PLCB1 Epileptic encephalopathy, early infantile, 12
PLPBP Epilepsy, early-onset, vitamin B6-dependent
PNKP Microcephaly, seizures, and developmental delay;
Ataxia-oculomotor apraxia 4
PNPO Pyridoxamine 5′-phosphate oxidase deficiency
POLG Mitochondrial DNA depletion syndrome 4A;
Mitochondrial DNA depletion syndrome 4B;
Mitochondrial recessive ataxia syndrome;
Progressive external ophthalmoplegia, autosomal dominant 1;
Progressive external ophthalmoplegia, autosomal recessive 1
PPT1 Ceroid lipofuscinosis, neuronal, 1
PRDM8 Epilepsy, progressive myoclonic, 10
PRICKLE1 Epilepsy, progressive myoclonic 1B
PRICKLE2 Epilepsy, progressive myoclonic 5
PRRT2 Seizures, benign familial infantile, 2;
Episodic kinesigenic dyskinesia 1;
Convulsions, familial infantile, with paroxysmal choreoathetosis
PURA Mental retardation, autosomal dominant 31
QARS Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy
RBFOX1 Rolandic epilepsy
RBFOX3 Rolandic epilepsy
RELN Lissencephaly 2; Epilepsy, familial temporal lobe, 7
ROGDI Kohlschutter-Tonz syndrome
SATB2 Glass syndrome
SCARB2 Epilepsy, progressive myoclonic 4, with or without renal failure
SCN1A Epilepsy, generalized, with febrile seizures plus, type 2;
Epileptic encephalopathy, early infantile, 6;
Migraine, familial hemiplegic, 3
SCN3A Epilepsy, familial focal, with variable foci 4;
Epileptic encephalopathy, early infantile, 62
SCN1B Epilepsy, generalized, with febrile seizures plus, type 1;
Epileptic encephalopathy, early infantile, 52
SCN2A Epileptic encephalopathy, early infantile, 11;
Seizures, benign familial infantile, 3
SCN8A Epileptic encephalopathy, early infantile, 13;
Seizures, benign familial infantile, 5;
Cognitive impairment with or without cerebellar ataxia
SCN9A Epilepsy, generalized, with febrile seizures plus, type 7;
Erythermalgia, primary; HSAN2D, autosomal recessive; Paroxysmal extreme pain disorder
SERPINI1 Encephalopathy, familial, with neuroserpin inclusion bodies
SIK1 Epileptic encephalopathy, early infantile, 30
SLC1A2 Epileptic encephalopathy, early infantile, 41
SLC12A5 Epileptic encephalopathy, early infantile, 34;
Epilepsy, idiopathic generalized, susceptibility to, 14
SLC13A5 Epileptic encephalopathy, early infantile, 25
SLC25A22 Epileptic encephalopathy, early infantile, 3
SLC2A1 GLUT1 deficiency syndrome 1, infantile onset, severe;
GLUT1 deficiency syndrome 2, childhood onset;
Stomatin-deficient cryohydrocytosis with neurologic defects;
Dystonia 9; Epilepsy, idiopathic generalized, susceptibility to, 12
SLC6A1 Myoclonic-atonic epilepsy
SLC6A8 Cerebral creatine deficiency syndrome 1
SLC9A6 Mental retardation, X-linked syndromic, Christianson type
SLC19A3 Thiamine metabolism dysfunction syndrome 2
(biotin- or thiamine-responsive encephalopathy type 2)
SLC35A2 Congenital disorder of glycosylation, type IIm
SLC35A3 Arthrogryposis, mental retardation, and seizures
SMARCA2 Nicolaides-Baraitser syndrome
SMC1A Congenital muscular hypertrophy-cerebral syndrome
SNIP1 Psychomotor retardation, epilepsy, and craniofacial dysmorphism
SNX27 Severe myoclonic epilepsy in infancy
SPATA5 Epilepsy, hearing loss, and mental retardation syndrome
SPTAN1 Epileptic encephalopathy, early infantile, 5
SRPX2 Rolandic epilepsy, mental retardation, and speech dyspraxia
ST3GAL3 Epileptic encephalopathy, early infantile, 15;
Mental retardation, autosomal recessive 12
ST3GAL5 Salt and pepper developmental regression syndrome
STX1B Generalized epilepsy with febrile seizures plus, type 9
STXBP1 Epileptic encephalopathy, early infantile, 4
SYN1 Epilepsy, X-linked, with variable learning disabilities and behavior disorders
SYNGAP1 Mental retardation, autosomal dominant 5
SYNJ1 Epileptic encephalopathy, early infantile, 53;
Parkinson disease 20, early-onset
SYP Mental retardation, X-linked 96
SZT2 Epileptic encephalopathy, early infantile, 18
TBC1D24 Epileptic encephalopathy, early infantile, 16;
Myoclonic epilepsy, infantile, familial; DOORS syndrome
TBCK Hypotonia, infantile,
with psychomotor retardation and characteristic facies 3
TCF4 Pitt-Hopkins syndrome
TSC1 Tuberous sclerosis-1
TSC2 Tuberous sclerosis-2
TPP1 Ceroid lipofuscinosis, neuronal, 2; Spinocerebellar ataxia, autosomal recessive 7
TUBB3 Cortical dysplasia, complex, with other brain malformations 1;
Fibrosis of extraocular muscles, congenital, 3A
UBA5 Epileptic encephalopathy, early infantile, 44; Spinocerebellar ataxia, autosomal recessive 24
UBE3A Angelman syndrome
WDR45 Neurodegeneration with brain iron accumulation 5
WWOX Epileptic encephalopathy, early infantile, 28;
Spinocerebellar ataxia, autosomal recessive 12
ZDHHC9 Mental retardation, X-linked syndromic, Raymond type
ZEB2 Mowat-Wilson syndrome