List of diseases covered by Epilepsy NGS panel

Published 21/05/2018

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