List of diseases covered by
Epilepsy NGS panel
| Gene | Condition |
| AARS1 | Epileptic encephalopathy, early infantile, 29; Charcot-Marie-Tooth disease, axonal, type 2N |
| ABAT | GABA-transaminase deficiency |
| ACTL6B | Epileptic encephalopathy, early infantile, 76; Intellectual developmental disorder with severe speech and ambulation defects |
| ADAM22 | Epileptic encephalopathy, early infantile, 61 |
| 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 |
| AMT | Glycine encephalopathy |
| AP3B2 | Epileptic encephalopathy, early infantile, 48 |
| 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 |
| ATP6V1A | Epileptic encephalopathy, infantile or early childhood, 3 |
| 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 |
| CACNA1E | Epileptic encephalopathy, early infantile, 69 |
| 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 |
| CNPY3 | Epileptic encephalopathy, early infantile, 60 |
| 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 |
| CYFIP2 | Epileptic encephalopathy, early infantile, 65 |
| DENND5A | Epileptic encephalopathy, early infantile, 49 |
| DEPDC5 | Epilepsy, familial focal, with variable foci 1 |
| DHFR | Megaloblastic anemia due to dihydrofolate reductase deficiency |
| D2HGDH | D-2-hydroxyglutaric aciduria |
| 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 |
| ETHE1 | Ethylmalonic encephalopathy |
| 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 |
| FRRS1L | Epileptic encephalopathy, early infantile, 37 |
| 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 |
| GABRB2 | Epileptic encephalopathy, infantile or early childhood, 2 |
| 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 |
| KCNT2 | Epileptic encephalopathy, early infantile, 57 |
| KCTD7 | Epilepsy, progressive myoclonic 3, with or without intracellular inclusions |
| 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 |
| MTHFR | Homocystinuria due to MTHFR deficiency; Neural tube defects, susceptibility to; Schizophrenia, susceptibility to; Thromboembolism, susceptibility to |
| MTOR | Smith-Kingsmore syndrome |
| NACC1 | Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination |
| NECAP1 | Epileptic encephalopathy, early infantile, 21 |
| NEUROD2 | Epileptic encephalopathy, early infantile, 72 |
| 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 |
| PHACTR1 | Epileptic encephalopathy, early infantile, 70 |
| PIGB | Epileptic encephalopathy, early infantile, 80 |
| 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 |
| PIGP | Epileptic encephalopathy, early infantile, 55 |
| PIGQ | Epileptic encephalopathy, early infantile, 77 |
| 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 |
| PPP3CA | Epileptic encephalopathy, infantile or early childhood, 1; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development |
| 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 |
| RNASEH2B | Aicardi-Goutieres syndrome 2 |
| 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 |
| SERAC1 | 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome |
| 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 |
| SNAP25 | Myasthenic syndrome, congenital, 18 |
| 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 |
| TBCD | Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum |
| TBC1D24 | Epileptic encephalopathy, early infantile, 16; Myoclonic epilepsy, infantile, familial; DOORS syndrome |
| TBCE | Encephalopathy, progressive, with amyotrophy and optic atrophy |
| 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 |
| TRAK1 | Epileptic encephalopathy, early infantile, 68 |
| TTC19 | Mitochondrial complex III deficiency, nuclear type 2 |
| 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 |
| WASF1 | Neurodevelopmental disorder with absent language and variable seizures |
| 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 |