TaoMedAI/RareMedData huggingface dataset:
Gene: SCN1A
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Aphasia (HP:0002381)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: Cogwheel rigidity (HP:0002396)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: Developmental regression (HP:0002376)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN1A
Phenotype: Developmental regression (HP:0002376)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: Developmental regression (HP:0002376)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Developmental regression (HP:0002376)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN1A
Phenotype: Developmental regression (HP:0002376)
Associated disease: DRAVET SYNDROME (OMIM:607208)
Gene: SCN1A
Phenotype: Developmental regression (HP:0002376)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN1A
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 (OMIM:604403)
Gene: SCN1A
Phenotype: Action tremor (HP:0002345)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: DRAVET SYNDROME (OMIM:607208)
Gene: SCN1A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: DRAVET SYNDROME (OMIM:607208)
Gene: SCN1A
Phenotype: Focal aware seizure (HP:0002349)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: Vertigo (HP:0002321)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Unsteady gait (HP:0002317)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Lack of peer relationships (HP:0002332)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: EEG with spike-wave complexes (>3.5 Hz) (HP:0010849)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B (OMIM:619317)
Gene: SCN1A
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B (OMIM:619317)
Gene: SCN1A
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN1A
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: EEG with multifocal slow activity (HP:0010844)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Photosensitive tonic-clonic seizure (HP:0007207)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Dissociated sensory loss (HP:0010835)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: Spontaneous pain sensation (HP:0010833)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: Focal emotional seizure with laughing (HP:0010821)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN1A
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DRAVET SYNDROME (OMIM:607208)
Gene: SCN1A
Phenotype: Atonic seizure (HP:0010819)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 (OMIM:604403)
Gene: SCN1A
Phenotype: Atonic seizure (HP:0010819)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Atonic seizure (HP:0010819)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: Atonic seizure (HP:0010819)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN1A
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 (OMIM:604403)
Gene: SCN1A
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Cyanotic episode (HP:0200048)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Tibial torsion (HP:0100694)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Tibial torsion (HP:0100694)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN1A
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: Hemiplegia (HP:0002301)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 3 (OMIM:609634)
Gene: SCN1A
Phenotype: Incoordination (HP:0002311)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Incoordination (HP:0002311)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN1A
Phenotype: Drooling (HP:0002307)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 3 (OMIM:609634)
Gene: SCN1A
Phenotype: Aortopulmonary collateral arteries (HP:0031834)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN1A
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 (OMIM:604403)
Gene: SCN1A
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: DRAVET SYNDROME (OMIM:607208)
Gene: SCN1A
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B (OMIM:619317)
Gene: SCN1A
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN1A
Phenotype: Focal hemiclonic seizure (HP:0006813)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B (OMIM:619317)
Gene: SCN1A
Phenotype: Diplopia (HP:0000651)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Blindness (HP:0000618)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 3 (OMIM:609634)
Gene: SCN1A
Phenotype: Photophobia (HP:0000613)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 3 (OMIM:609634)
Gene: SCN1A
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN1A
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Limited knee extension (HP:0003066)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Limited knee extension (HP:0003066)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN1A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Irritability (HP:0000737)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: Anxiety (HP:0000739)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN1A
Phenotype: Anxiety (HP:0000739)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B (OMIM:619317)
Gene: SCN1A
Phenotype: Short attention span (HP:0000736)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Apathy (HP:0000741)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: GEFS+; Genetic epilepsy with febrile seizure plus; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Gene: SCN1A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Psychosis (HP:0000709)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Facial tics (HP:0011468)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Facial tics (HP:0011468)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B (OMIM:619317)
Gene: SCN1A
Phenotype: Childhood onset (HP:0011463)
Associated disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 2 (OMIM:604403)
Gene: SCN1A
Phenotype: Young adult onset (HP:0011462)
Associated disease: MIGRAINE, FAMILIAL HEMIPLEGIC, 3 (OMIM:609634)
Gene: SCN1A
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN1A
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Lennox-Gastaut syndrome (ORPHA:2382)
Gene: SCN1A
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Photopsia (HP:0030786)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: Epilepsia partialis continua (HP:0012847)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Precocious puberty (HP:0000826)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN1A
Phenotype: Pallor (HP:0000980)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Pes valgus (HP:0008081)
Associated disease: Severe myoclonus epilepsy of infancy; Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy (ORPHA:33069)
Gene: SCN1A
Phenotype: Broad philtrum (HP:0000289)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: CSF pleocytosis (HP:0012229)
Associated disease: Familial or sporadic hemiplegic migraine (ORPHA:569)
Gene: SCN1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN1A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)
Gene: SCN1A
Phenotype: Hypoplastic hippocampus (HP:0025517)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B (OMIM:619317)
Gene: SCN1A
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: SCN1A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN1A
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 6B (OMIM:619317)
Gene: SCN1A
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: EIMFS; Malignant migrating partial epilepsy of infancy; MMPSI; MMPEI; Epilepsy of infancy with migrating focal seizures; MPEI; Epilepsy with migrating focal seizure in infancy; Malignant migrating partial seizures of infancy; MPSI; Migrating partial epilepsy of infancy; Migrating partial seizures of infancy (ORPHA:293181)
Gene: SCN1A
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: EMAS; Doose syndrome; Epilepsy with myoclonic-atonic seizures; Myoclonic-astatic epilepsy in early childhood; Epilepsy with myoclonic-astatic seizures; Myoclonic atonic epilepsy; Myoclonic-astatic epilepsy; MAE (ORPHA:1942)