ADORA2A
|
Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) |
61 |
ALG13
|
Lennox-Gastaut Syndrome and/or Infantile Spasms |
62 |
ARFGEF2
|
West Syndrome |
63 |
ARHGEF15
|
Severe Early-onset Epilepsy |
64 |
ARHGEF9
|
Severe mental retardation and epilepsy |
65 |
ARX
|
Lennox-Gastaut syndrome Ohtahara Syndrome West Syndrome |
16; 29; 30 |
ASAH1
|
Childhood-onset Epilepsy or Early-onset encephalopathy |
66 |
C10orf2
|
Early Onset Encephalopathy Infantile onset Spinocerebellar Ataxia Syndrome |
67; 68 |
CACNA1A
|
Lennox-Gastaut Syndrome and/or Infantile Spasms |
62 |
CACNA2D2
|
Early infantile epileptic encephalopathies |
69; 70 |
CASK
|
Ohtahara Syndrome |
17 |
CDKL5/STK9
|
Early onset encephalopathy Infantile Spasms and Mental Retardation Lennox-Gastaut syndrome West Syndrome |
31; 71;72; 73 |
CHD2
|
Dravet Syndrome Infantile Spasms Lennox-Gastaut syndrome |
45; 62; 74; 75 |
CHRNA7
|
Congenital retinal dysfunction, Refractory epilepsy, Encephalopathy, Mental retardation, Repetitive hand movements, Severe muscular hypotonia and Macrocytosis. Severe encephalopathy with seizures and hypotonia |
76; 77; 78 |
CLCN4
|
Severe Early-onset Epilepsy |
64 |
CNTNAP2
|
Focal Epilepsy with Regression |
79 |
DCX
|
Lennox-Gastaut Syndrome and/or Infantile Spasms |
62 |
DOCK7
|
Epileptic Encephalopathy and Cortical Blindness |
80 |
EEF1A2
|
Severe Early-onset Epilepsy |
64 |
ENG
|
Early Infantile Epileptic Encephalopathy with suppression-burst |
81 |
ErbB4
|
Early Mioclonic Encephalopathy |
13 |
FLNA
|
Lennox-Gastaut Syndrome and/or Infantile Spasms |
62 |
FOLR1
|
Childhood-onset Epilepsy or Early-onset encephalopathy |
66 |
FOXG1
|
Rett syndrome with early-onset seizures |
82; 83 |
GABRA1
|
Lennox-Gastaut Syndrome and/or Infantile Spasms |
62 |
GABRB3
|
Lennox-Gastaut Syndrome and/or Infantile Spasms |
62 |
GABRG2
|
Doose syndrome Dravet Syndrome Generalized epilepsy with febrile seizures plus (GEFS+) |
45; 50; 84 |
GNAO1
|
Epileptic Encephalopathy with involuntary movements |
85 |
GRIN1
|
Lennox-Gastaut Syndrome and/or Infantile Spasms |
62 |
GRIN2A
|
Epileptic encephalopathy with continuous spike-and-wave during sleep Atypical rolandic epilepsy and speech impairment Landau-Kleffner syndrome |
56;58; 86; 87;88 |
GRIN2B
|
Lennox-Gastaut Syndrome and/or Infantile Spasms Mental retardation and/or epilepsy |
88; 62 |
HCN1
|
Early Infantile Epileptic Encephalopathy |
89 |
HDAC4
|
Lennox-Gastaut Syndrome and/or Infantile Spasms |
62 |
HNRNPU
|
Lennox-Gastaut Syndrome and/or Infantile Spasms |
62; 90 |
HOXD
|
Early Infantile Epileptic Encephalopathy without Mesomelic Dysplasia |
91 |
IQSEC2
|
Lennox-Gastaut Syndrome and/or Infantile Spasms |
62 |
JNK3
|
Severe Developmental Epileptic Encephalopathy (Lennox-Gastaut syndrome) |
42 |
KCNH5
|
Severe Early-onset Epilepsy |
64 |
KCNQ2
|
Early onset epileptic encephalopathy (EOEE) Ohtahara Syndrome |
18; 92; 93; 94 |
KCNQ3
|
Benign Familial Neonatal Seizures (BFNS) Early onset epileptic encephalopathy (EOEE) |
65; 95; 96 |
KCNT1
|
Malignant migrating partial seizures of infancy (MMPSI) Ohtahara Syndrome |
18; 22;97 |
KCTD7
|
Progressive Myoclonus Epilepsy |
65; 98 |
KLF13
|
Congenital retinal dysfunction, Refractory epilepsy, Encephalopathy, Mental retardation, Repetitive hand movements, Severe muscular hypotonia and Macrocytosis. |
78 |
MAGI2
|
Early-onset Epileptic Encephalopathy Infantile spasms |
99; 100; 101 |
MBD5
|
West Syndrome |
90 |
MECP2
|
Early-onset Encephalopathy and Cortical Myoclonus Lennox-Gastaut syndrome and Rett syndrome |
41; 102 |
MEF2C
|
Severe Intellectual Disability and Early-onset Epileptic Encephalopathy |
103 |
MTOR
|
Lennox-Gastaut Syndrome and/or Infantile Spasms |
62 |
NECAP1
|
Severe infantile epileptic encephalopathy |
104 |
NEDD4L
|
Lennox-Gastaut Syndrome and/or Infantile Spasms |
62 |
NRG2
|
Hypotonia, Feeding difficulty in infancy, Severe developmental delay, and Epileptic/nonepileptic Encephalopathy associated with Delayed Myelination |
105 |
PCDH19
|
Dravet Syndrome Infantile or early childhood onset epilepsy in female patients Lennox-Gastaut syndrome |
45; 53; 106 |
PCDHG
|
Hypotonia, Feeding difficulty in infancy, Severe developmental delay, and Epileptic/nonepileptic Encephalopathy associated with Delayed Myelination |
105 |
PIGA
|
Early-onset Epileptic Encephalopathy |
15 |
PIGQ
|
Ohtahara Syndrome |
18 |
PLCB1
|
Early-onset epileptic encephalopathy Malignant migrating partial seizures in infancy |
26; 62; 101 |
PNKP
|
Early-onset Epileptic Encephalopathy Intractable Seizures and Developmental delay West Syndrome |
100; 101; 107 |
PNPO
|
Neonatal epileptic encephalopathy |
108 |
POLG1
|
Alpers syndrome Childhood progressive encephalopathy Severe Encephalopathy with Intractable Epilepsy |
109; 110 |
PRRT2
|
Benign familial Infantile Epilepsy (BFIE) Infantile convulsions with choreoathetosis (ICCA) Paroxysmal kinesigenic dyskinesia (PKD) |
111; 112 |
RB1
|
Infantile Spasms and Retinoblastoma |
113 |
SCN1A
|
Acute Encephalopathy Doose Syndrome Dravet Syndrome Early Onset Epilepsy (EOE) Generalized Epilepsy With Febrile Seizures Plus (GEFS+) Lennox-Gastaut syndrome Malformations of Cortical Development (MCDs) Malignant Migrating Partial Seizures of Infancy West Syndrome |
11; 20; 43; 47; 64; 114; 115; 116; 117;118; 119; 120 |
SCN1B
|
Dravet Syndrome Generalized epilepsy with febrile seizures plus (GEFS+) |
44; 52; 121 |
SCN2A
|
Dravet Syndrome Generalized epilepsy with febrile seizures plus (GEFS+) Intractable epilepsy Lennox-Gastaut syndrome Migrating focal seizures of infancy Ohtahara Syndrome West Syndrome |
18; 19; 51; 65; 60; 122; 123 |
SCN8A
|
Epilepsy of infancy with migrating focal seizures Infantile epileptic encephalopathy and SUDEP Lennox-Gastaut syndrome |
21;62; 124 |
SERPINI1
|
Continuous Spike and Waves during slow-wave Sleep |
55 |
SLC19A3
|
Epileptic spasms in early infancy Severe psychomotor retardation |
125 |
SLC25A22
|
Early myoclonic encephalopathy Epilepsy of infancy with migrating focal seizures Neonatal Epileptic Encephalopathy with Suppression Burst |
12; 24; 126 |
SLC2A1
|
Doose Syndrome GLUT1 deficiency with neurodevelopmental delay and severe ataxia |
46; 127 |
SLC35A2
|
Early-onset Epileptic Encephalopathy |
128 |
SLC9A6
|
Continuous Spike and Waves during slow-wave Sleep and Christianson syndrome |
57 |
SNAP25
|
Severe Static Encephalopathy, Intellectual disability, and Generalized Epilepsy |
129 |
SPTAN1
|
West Syndrome |
39; 130 |
SRGAP2
|
Early infantile epileptic encephalopathy |
131 |
SRPX2
|
Rolandic epilepsy associated with oral and speech dyspraxia and mental retardation |
132 |
STXBP1
|
Borderline Early myoclonic encephalopathy and Ohtahara Syndrome Early infantile epileptic encephalopathy Lennox-Gastaut syndrome Ohtahara Syndrome West Syndrome |
14; 38; 62; 101; 133; 134 |
SYNGAP1
|
Early-onset epileptic Encephalopathy |
45; 66 |
SYNJ1
|
Childhood-onset Epilepsy or Early-onset encephalopathy |
66 |
SZT2
|
Early-onset Epileptic Encephalopathy characterized by Refractory Epilepsy and Absent Developmental Milestones |
135 |
TBC1D24
|
Familial Infantile Myoclonic Epilepsy Focal epilepsy and Intellectual disability syndrome Malignant Migrating Partial Seizures of Infancy (MMPSI) Ohtahara Syndrome |
23; 136 |
TCF4
|
Pitt-Hopkins syndrome (PHS) |
137 |
TNK2
|
Infantile onset Epilepsy and Intellectual Disability |
138 |
TOR1A
|
Early Infantile Epileptic Encephalopathy |
81 |
TRPM1
|
Congenital retinal dysfunction, Refractory epilepsy, Encephalopathy, Mental retardation, Repetitive hand movements, Severe muscular hypotonia and Macrocytosis. |
78 |