Phenotype: Atonic seizure (HP:0010819)
Associated genes and diseases:
gene_symbol: HCN2
disease_id: OMIM:602477
disease_name: FEBRILE SEIZURES, FAMILIAL, 2
gene_symbol: SCN1A
disease_id: OMIM:607208
disease_name: DRAVET SYNDROME
gene_symbol: SCN1A
disease_id: OMIM:604403
disease_name: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2
gene_symbol: SCN1A
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: SCN1A
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: SCN1A
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: PCDH19
disease_id: ORPHA:101039
disease_name: Female restricted epilepsy with intellectual disability
EFMR
Juberg-Hellman syndrome
gene_symbol: PCDH19
disease_id: OMIM:300088
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 9
gene_symbol: RPS6KA3
disease_id: ORPHA:192
disease_name: Coffin-Lowry syndrome
CLS
gene_symbol: NEXMIF
disease_id: OMIM:300912
disease_name: MENTAL RETARDATION, X-LINKED 98
gene_symbol: NEXMIF
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: AP2M1
disease_id: OMIM:618587
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 60, WITH SEIZURES
gene_symbol: AP2M1
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: GRIN2A
disease_id: OMIM:245570
disease_name: EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION
gene_symbol: GRIN2A
disease_id: ORPHA:725
disease_name: Developmental and epileptic encephalopathy with spike-wave activation in sleep
CSWS
CSWSS syndrome
Continuous spikes and waves during sleep
Continuous spikes and waves during slow-wave sleep
DEE-SWAS
Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Epileptic encephalopathy with spike-and wave activation in sleep
gene_symbol: CUX2
disease_id: OMIM:618141
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67
gene_symbol: CUX2
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: RUSC2
disease_id: OMIM:617773
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61
gene_symbol: DYRK1A
disease_id: ORPHA:268261
disease_name: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
21q22.13q22.2 microdeletion syndrome
Del(21)(q22.13q22.2)
Monosomy 21q22.13q22.2
gene_symbol: KCNC2
disease_id: OMIM:619913
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 103
gene_symbol: GPAA1
disease_id: OMIM:617810
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15
gene_symbol: DOCK7
disease_id: ORPHA:411986
disease_name: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
gene_symbol: DOCK7
disease_id: OMIM:615859
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23
gene_symbol: ATP6V0C
disease_id: OMIM:620465
disease_name: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY
gene_symbol: ACBD6
disease_id: OMIM:620785
disease_name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES
gene_symbol: SPTAN1
disease_id: OMIM:620540
disease_name: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY
gene_symbol: ALDH4A1
disease_id: ORPHA:79101
disease_name: Hyperprolinemia type 2
Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency
gene_symbol: FZR1
disease_id: OMIM:620145
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 109
gene_symbol: NHLRC1
disease_id: ORPHA:501
disease_name: Lafora disease
EPM2
PME type 2
Progressive myoclonic epilepsy type 2
Progressive myoclonus epilepsy type 2
gene_symbol: NHLRC1
disease_id: OMIM:620681
disease_name: MYOCLONIC EPILEPSY OF LAFORA 2
gene_symbol: EPM2A
disease_id: ORPHA:501
disease_name: Lafora disease
EPM2
PME type 2
Progressive myoclonic epilepsy type 2
Progressive myoclonus epilepsy type 2
gene_symbol: ATP6AP2
disease_id: ORPHA:93952
disease_name: X-linked intellectual disability, Hedera type
MRXSH
gene_symbol: DOHH
disease_id: OMIM:620066
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT
gene_symbol: ADGRG1
disease_id: ORPHA:101070
disease_name: Bilateral frontoparietal polymicrogyria
gene_symbol: CSNK2A1
disease_id: OMIM:617062
disease_name: OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME
gene_symbol: GAMT
disease_id: ORPHA:382
disease_name: Guanidinoacetate methyltransferase deficiency
GAMT deficiency
gene_symbol: GAMT
disease_id: OMIM:612736
disease_name: CEREBRAL CREATINE DEFICIENCY SYNDROME 2
gene_symbol: CEP85L
disease_id: OMIM:618873
disease_name: LISSENCEPHALY 10
gene_symbol: ALG13
disease_id: OMIM:300884
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 36
gene_symbol: STX1B
disease_id: OMIM:616172
disease_name: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9
gene_symbol: STX1B
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: GABRG2
disease_id: OMIM:618396
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 74
gene_symbol: GABRG2
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: KCNB1
disease_id: OMIM:616056
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 26
gene_symbol: ST3GAL3
disease_id: OMIM:615006
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 15
gene_symbol: CHD2
disease_id: OMIM:615369
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 94
gene_symbol: CHD2
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: CHD2
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: GNB1
disease_id: OMIM:616973
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 42
gene_symbol: ARFGEF1
disease_id: OMIM:619964
disease_name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES
gene_symbol: IQSEC2
disease_id: OMIM:309530
disease_name: MENTAL RETARDATION, X-LINKED 1
gene_symbol: MAST3
disease_id: OMIM:620115
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 108
gene_symbol: PIK3CA
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly
gene_symbol: MTOR
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly
gene_symbol: AKT3
disease_id: ORPHA:99802
disease_name: Hemimegalencephaly
Unilateral megalencephaly
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: ASAH1
disease_id: ORPHA:2590
disease_name: Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Hereditary myoclonus-progressive distal muscular atrophy syndrome
Jankovic-Rivera syndrome
SMA-PME
gene_symbol: HNRNPU
disease_id: OMIM:617391
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 54
gene_symbol: COX8A
disease_id: OMIM:619059
disease_name: MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15
gene_symbol: GRIK2
disease_id: OMIM:611092
disease_name: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 6
gene_symbol: MTHFS
disease_id: OMIM:618367
disease_name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND HYPOMYELINATION
gene_symbol: SLC6A1
disease_id: OMIM:616421
disease_name: MYOCLONIC-ATONIC EPILEPSY
gene_symbol: SLC6A1
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: GABRB3
disease_id: OMIM:617113
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43
gene_symbol: GABRB3
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: PRMT7
disease_id: OMIM:617157
disease_name: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES
gene_symbol: POLR1A
disease_id: OMIM:616462
disease_name: ACROFACIAL DYSOSTOSIS, CINCINNATI TYPE
gene_symbol: CNTNAP2
disease_id: OMIM:610042
disease_name: PITT-HOPKINS-LIKE SYNDROME 1
gene_symbol: CAMK2B
disease_id: OMIM:617799
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54
gene_symbol: DNM1
disease_id: OMIM:616346
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 31
gene_symbol: DNM1
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: FRRS1L
disease_id: ORPHA:725
disease_name: Developmental and epileptic encephalopathy with spike-wave activation in sleep
CSWS
CSWSS syndrome
Continuous spikes and waves during sleep
Continuous spikes and waves during slow-wave sleep
DEE-SWAS
Epileptic encephalopathy with continuous spike-and-wave during slow sleep
Epileptic encephalopathy with spike-and wave activation in sleep
gene_symbol: ADGRV1
disease_id: OMIM:604352
disease_name: FEBRILE SEIZURES, FAMILIAL, 4
gene_symbol: ADGRV1
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: PAFAH1B1
disease_id: ORPHA:95232
disease_name: Lissencephaly due to LIS1 mutation
PAFAH1B1-related lissencephaly
gene_symbol: SCN1B
disease_id: OMIM:604233
disease_name: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1
gene_symbol: SCN1B
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SCN1B
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: DPM1
disease_id: ORPHA:79322
disease_name: DPM1-CDG
CDG syndrome type Ie
CDG-Ie
CDG1E
Carbohydrate deficient glycoprotein syndrome type Ie
Congenital disorder of glycosylation type 1e
Congenital disorder of glycosylation type Ie
Dol-P-mannosyltransferase deficiency
gene_symbol: SLC2A1
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: SYNGAP1
disease_id: ORPHA:1942
disease_name: Myoclonic-astatic epilepsy
Doose syndrome
EMAS
Epilepsy with myoclonic-astatic seizures
Epilepsy with myoclonic-atonic seizures
MAE
Myoclonic atonic epilepsy
Myoclonic-astatic epilepsy in early childhood
gene_symbol: ALDH7A1
disease_id: ORPHA:3006
disease_name: Pyridoxine-dependent epilepsy
Antiquitin deficiency
Vitamin B6-dependent seizures
gene_symbol: PLPBP
disease_id: ORPHA:3006
disease_name: Pyridoxine-dependent epilepsy
Antiquitin deficiency
Vitamin B6-dependent seizures
gene_symbol: STXBP1
disease_id: ORPHA:599373
disease_name: STXBP1-related encephalopathy
gene_symbol: MAPK10
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: CACNA1A
disease_id: ORPHA:2382
disease_name: Lennox-Gastaut syndrome
gene_symbol: CTNNA2
disease_id: OMIM:618174
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9
gene_symbol: PIGM
disease_id: OMIM:610293
disease_name: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 1
gene_symbol: EHMT1
disease_id: OMIM:610253
disease_name: KLEEFSTRA SYNDROME 1
gene_symbol: GNB2
disease_id: OMIM:619503
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES
gene_symbol: GABRA1
disease_id: OMIM:615744
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19
gene_symbol: GOSR2
disease_id: OMIM:614018
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 6
gene_symbol: PHGDH
disease_id: ORPHA:79351
disease_name: 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
PHGDH deficiency, infantile/juvenile form
gene_symbol: PRICKLE1
disease_id: OMIM:612437
disease_name: EPILEPSY, PROGRESSIVE MYOCLONIC, 1B
gene_symbol: SLC32A1
disease_id: OMIM:620774
disease_name: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114
gene_symbol: SLC32A1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: CRELD1
disease_id: OMIM:620771
disease_name: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME
gene_symbol: CDKL5
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: KCNA1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: PIGQ
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GNAO1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: TRIM8
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GRIN1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GRIN1
disease_id: ORPHA:208447
disease_name: Bilateral generalized polymicrogyria
gene_symbol: SLC25A22
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SIK1
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: CASK
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: DMXL2
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: GRM7
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: ARX
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: PNKP
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SCN2A
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SCN2A
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: PIGP
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: NEUROD2
disease_id: ORPHA:1934
disease_name: Early infantile epileptic encephalopathy
EIEE
Early infantile epileptic encephalopathy with suppression-bursts
Ohtahara syndrome
gene_symbol: SCN9A
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: GABRD
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: PRRT2
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: CPA6
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: HCN1
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus
gene_symbol: FGF13
disease_id: ORPHA:36387
disease_name: Genetic epilepsy with febrile seizure plus
GEFS+
Generalized epilepsy with febrile seizures-plus