{"count":6723,"next":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2220","previous":"https://cinder.proteo.info/api/human_diseases/?format=json&limit=20&offset=2180","results":[{"identifier":"Epilepsy, familial adult myoclonic, 7.","acronym":"FAME7.","accession":"DI-05298","synonyms":"BAFME7.; Benign adult familial myoclonic epilepsy 27.; Cortical myoclonic tremor with epilepsy, familial, 7.; FCMTE7.; ","cross_references":"MeSH; D004831.","definition":"A form of familial myoclonic epilepsy, a neurologic disorder characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course. Usually, myoclonic tremor is the presenting symptom, characterized by tremulous finger movements and myoclonic jerks of the limbs increased by action and posture. In a minority of patients, seizures are the presenting symptom. Some patients exhibit mild cognitive impairment. FAME7 inheritance is autosomal dominant. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, familial focal, with variable foci 1.","acronym":"FFEVF1.","accession":"DI-03794","synonyms":"FFEVF.; FPEVF.; Partial epilepsy with variable foci.; ","cross_references":"MeSH; D004828.","definition":"An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, familial focal, with variable foci 2.","acronym":"FFEVF2.","accession":"DI-04832","synonyms":null,"cross_references":"MeSH; D004828.","definition":"An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, familial focal, with variable foci 3.","acronym":"FFEVF3.","accession":"DI-04831","synonyms":null,"cross_references":"MeSH; D004828.","definition":"An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, familial focal, with variable foci 4.","acronym":"FFEVF4.","accession":"DI-05229","synonyms":null,"cross_references":"MeSH; D004828.","definition":"An autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy, frontal lobe epilepsy, and nocturnal frontal lobe epilepsy. Some patients may have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. A subset of patients have structural brain abnormalities. Penetrance of the disorder is incomplete. FFEVF4 is characterized by onset of focal seizures in the first years of life. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, familial temporal lobe, 1.","acronym":"ETL1.","accession":"DI-00628","synonyms":"ADLTE.; ADPEAF.; Lateral temporal lobe epilepsy autosomal dominant.; Partial epilepsy with auditory features.; ","cross_references":"MeSH; D004833.","definition":"A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, familial temporal lobe, 5.","acronym":"ETL5.","accession":"DI-03336","synonyms":null,"cross_references":"MeSH; D004833.","definition":"A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, familial temporal lobe, 7.","acronym":"ETL7.","accession":"DI-04463","synonyms":null,"cross_references":"MeSH; D004833.","definition":"A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, familial temporal lobe, 8.","acronym":"ETL8.","accession":"DI-04482","synonyms":null,"cross_references":"MeSH; D004833.","definition":"A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, focal, with speech disorder and with or without impaired intellectual development.","acronym":"FESD.","accession":"DI-03169","synonyms":"Acquired aphasia with epilepsy.; ADRESD.; BECTS.; Benign epilepsy of childhood with centrotemporal spikes.; Continuous spike and waves during slow-wave sleep syndrome.; CSWS.; CSWSS.; Landau-Kleffner syndrome.; LKS.; RESDAD.; ","cross_references":"MeSH; D004827.","definition":"An autosomal dominant, highly variable neurologic disorder. Features range from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and intellectual disability to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. The disorder encompasses several clinical entities, including Landau-Kleffner syndrome, epileptic encephalopathy with continuous spike and wave during slow-wave sleep, autosomal dominant rolandic epilepsy, intellectual disability and speech dyspraxia, and benign epilepsy with centrotemporal spikes. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, idiopathic generalized 10.","acronym":"EIG10.","accession":"DI-02485","synonyms":"EIG10.; Susceptibility to idiopathic generalized epilepsy 10.; ","cross_references":"MeSH; D004829.","definition":"A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, idiopathic generalized 11.","acronym":"EIG11.","accession":"DI-00469","synonyms":"Susceptibility to idiopathic generalized epilepsy 11.; ","cross_references":"MeSH; D004829.","definition":"A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, idiopathic generalized 12.","acronym":"EIG12.","accession":"DI-03549","synonyms":"Susceptibility to idiopathic generalized epilepsy 12.; ","cross_references":"MeSH; D004829.","definition":"A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. In some EIG12 patients seizures may remit with age. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, idiopathic generalized 13.","acronym":"EIG13.","accession":"DI-04084","synonyms":null,"cross_references":"MeSH; D004829.","definition":"A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, idiopathic generalized 14.","acronym":"EIG14.","accession":"DI-04596","synonyms":null,"cross_references":"MeSH; D004829.","definition":"An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, idiopathic generalized 15.","acronym":"EIG15.","accession":"DI-05509","synonyms":null,"cross_references":"MeSH; D004829.","definition":"An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG15 is characterized by onset of variable types of seizures in the first decade of life. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, idiopathic generalized 16.","acronym":"EIG16.","accession":"DI-05665","synonyms":null,"cross_references":"MeSH; D004829.","definition":"An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG16 is characterized by onset of seizures soon after birth or in the first years of life. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, idiopathic generalized 17.","acronym":"EIG17.","accession":"DI-06235","synonyms":null,"cross_references":"MeSH; D004829.","definition":"A form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. Both autosomal dominant and autosomal recessive EIG17 inheritance have been reported. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, idiopathic generalized 18.","acronym":"EIG18.","accession":"DI-06223","synonyms":null,"cross_references":"MeSH; D004829.","definition":"An autosomal dominant form of idiopathic generalized epilepsy, a disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. Seizure types include juvenile myoclonic seizures, absence seizures, and generalized tonic-clonic seizures. EIG18 is characterized by onset of myoclonic seizures in infancy. Although the seizures remit, some patients may have later speech or cognitive impairment. ","keywords":"KW-0887:Epilepsy.; "},{"identifier":"Epilepsy, idiopathic generalized 6.","acronym":"EIG6.","accession":"DI-00594","synonyms":"Susceptibility to idiopathic generalized epilepsy 6.; ","cross_references":"MeSH; D004829.","definition":"A disorder characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Generalized seizures arise diffusely and simultaneously from both hemispheres of the brain. ","keywords":"KW-0887:Epilepsy.; "}]}