{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0024556/OMIM:604364","label":"Epilepsy, familial focal, with variable foci","mondoId":"MONDO:0024556","onsetQualifier":null,"recordKeys":["1c16659cd6480bbedc21ebbfbcdb019969b7766cc3533de4ecea93b48c3e25c7","2dd0ab79fde47d85dd1e826f262036dea6bcf4e14a3068f879314a7ffa3dd5a9","6185908725dbe24ebb74177b814c29b1494213f0147a057ed69e2ce26cd79a7b","62e1a0630dd91577219f88e686c7fb4777055e81f799e947fddb5739a33b8544","9ce7ab6afdaccc976e2b8f90147dc7aaf2fe0a90ad73952fca7da2fb22772c57","b7013ce3862c38716b34709d83de46ba9fb75ce5a795480a8e6f492ddd49e7db","b9d95c6e92c494c7562c4c16bbee048c33d2f88596a78e82a008b7f354ba3660","c347704e7d6f2bb5f7820e85eead9308668b108ae6c11b250252e3f6cf040218","feda87be8df3ea9948a0e3dc03959d2f980861b06ad2f80971dacd86315f5abd"],"recordQualifiers":{},"scopeLabel":"OMIM:604364","sourceIds":["OMIM:604364"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0014924/OMIM:617116","label":"Epilepsy, familial focal, with variable foci 2","mondoId":"MONDO:0014924","onsetQualifier":null,"recordKeys":["cab5e46523c146df39c17e839cc82a502188c28952fe12d81ec8ba5586b8f664","d305c7b9aa64decaec5374ad6d3dd296d442af3282c2bee93566d114a6dad670"],"recordQualifiers":{},"scopeLabel":"OMIM:617116","sourceIds":["OMIM:617116"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0014925/OMIM:617118","label":"Epilepsy, familial focal, with variable foci 3","mondoId":"MONDO:0014925","onsetQualifier":null,"recordKeys":["01298c135498c14a5fd69c45e90df9798e4bc1adfefad64f5745253886bd6b80","418aa34fa4ebcbda577e6312cc2c9b37601750e0a7b93dde4de2c3c2bfeffab5","cf903dfa507cc9ef71ea143d0593d760a4933eaf983e9ae3236f3d0da9278dd4"],"recordQualifiers":{},"scopeLabel":"OMIM:617118","sourceIds":["OMIM:617118"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0054776/OMIM:617935","label":"Epilepsy, familial focal, with variable foci 4","mondoId":"MONDO:0054776","onsetQualifier":null,"recordKeys":["02ffbd94cc3c1e3b3dda5ae2989345c1dafe7fb19019788008bf0cc10016daa7","1a62465c07b70c4d8dc370efa04a51837e4f08ad0646e2c3ae293015d7fc6c82","46f37fc355c7217dd81dc11ce8124e27415e3556e7e8c03ea3968057fb09bac4","47b4c83e36883b38aaa92594e9b765331728a77ab65c70154371b6337a432692","4a70680d00e6cd4b42f3bbc0a528c2d32bacf195021ec497e1385a2fa99ac62c","52722a8df0b46f3566e8476cdcd2e27a092381bc96a5ccdd43c8dc67a7ae810d","60f4ad186110ee9ba3c217f79dfe30636d03feceb1efe198c3d8fec2b9691763","66b63c131de0a9eaaf01a7063372f36dcaabbf5e4745277d5f02d3422600a93c","76b877bb16f52429b9160a3f11a24c8287cb3d2d2c401e9c583ebd7ef3265d0b","89f1a3e916e7b7749c4b18a8327015d6a9061aba92966ea264b2c77227ac94b6","aa5fe8efcd72b3770392ec1b88bbef4aec914069f89a9b32b081466a53abe508","eec800cce7c20413a8ec610860ee248946916bb17d1c5006869f8fdaf6cbc21a","fdf56a2605e2666a23519111840effbf079ede8c402f9eb1a35ca5d2436f6962"],"recordQualifiers":{},"scopeLabel":"OMIM:617935","sourceIds":["OMIM:617935"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0020310/ORPHA:98820","label":"Familial focal epilepsy with variable foci","mondoId":"MONDO:0020310","onsetQualifier":null,"recordKeys":["08c80d761abb2383ad77c9f998290d0ccbd934c8f7fbf55d84d86f2f03481415","0b57f4af77ad2a5f3869c37edad31d808a0f492d2432935f8907db3d9811104f","0f7c217c5b2621cb03b2d5e9a06161476af57af50cfc073b9147496c3646fb72","25a2b57180f75356509876a513d5c5c6aa5254aad1eaa8cd73324fa7e38a54c9","273cd7f9ea4f77bcb60b584603312549d31922d94fe6c598b343c33dae80f69a","2eac0012e88c431785221282843ce9e8a0f7e4fdff7b1a5ae8c8d530294f63b5","3110c202be65bbc7b6de97dca9bbb79e6b4a14eade438f5a8c7e98be07d465b5","337948231965a00eed3d3b2492f02c0f7d338ddf406f48f82672d6a9c5dba1d2","3c202432d908ebd422bbd07ed69b22bb41f5e5b12027cf64c0fbf9a8c7fec5e8","505117b5f986fcc8ae8c867fc1dac29db3e01f9185d19f14623cfb36f62d1643","62ff974256f5cdd05a4b6244bd70051202f33ed761fe8ca623576b32e1f13183","6750f72084441b205d83791c6a19984fa2677203bab483334295f16bac3c03b8","780b66545e86f26eb870541a6dc77b403769410b34be72ce3995ec1bae503509","8a607659d0bf668676e98a43f634b6b1d7c821ed2a8b096be3f5bf19c1049467","8dc2bd5ab86975ea7b03a2cd6ca01e60c53c7acc8bebd4c46bfcd7fd84d0b0ef","b9e35f337d004333a573f35a5b9c5194a9a842638ebf1edf63d42e0eeaeb1dd0","c4c3e6593b480281c6293fe156b7370ee1214077a5b67ad97885bdfd24981d49","c7fa4d75e54e353519b0b35f204054dbbc7bf9bb9eae0d9439dc14382f7ac5a0","ca715182a9573b1c4943878bb0dab7ef18221777fc86959e6f668469546295b8","d9f8ea95051cb94e2a550bc79d66a8685de8afdb301f42d7ddc705ee145c0107","db066e14dfd125a1b5057edfa3520ae97a64297533cef990c5ff92aed9f35f83","dddc8ee7deaafd50ca25c244377ee4407ac0aa7bdf6b5af846ac4d472083c410","de0ecd592a77a7838bfb443dc92ac4e3dcd587fc596e0c16c23f0a771c02b3d6","e202e062ab8406b6ad7754a349185c8990c366bd8bf7fc5ee187fc31a25a2e7a","ee52ff8939c650f76de08c34ab9245ec15d3a51d5425b5db280943494175ee97","efccdfca9d5d4351c0ffe3e3a8774b1dd6427db4f90a666b2df6b73885bdc309"],"recordQualifiers":{},"scopeLabel":"ORPHA:98820","sourceIds":["ORPHA:98820"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0024556/OMIM:604364","MONDO:0014924/OMIM:617116","MONDO:0014925/OMIM:617118","MONDO:0054776/OMIM:617935"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":19,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":53,"sourceGroups":{"omim":6,"orphanet":26,"published":21}},"features":[{"hpoId":"HP:0012332","label":"Abnormal autonomic nervous system physiology","primary":false},{"hpoId":"HP:0007018","label":"Attention deficit hyperactivity disorder","primary":false},{"hpoId":"HP:0000708","label":"Atypical behavior","primary":false},{"hpoId":"HP:0008765","label":"Auditory hallucination","primary":false},{"hpoId":"HP:0000729","label":"Autistic behavior","primary":false},{"hpoId":"HP:0002069","label":"Bilateral tonic-clonic seizure","primary":false},{"hpoId":"HP:0006889","label":"Borderline intellectual disability","primary":false},{"hpoId":"HP:0020221","label":"Clonic seizure","primary":false},{"hpoId":"HP:0100543","label":"Cognitive impairment","primary":false},{"hpoId":"HP:0012005","label":"Deja vu aura","primary":false},{"hpoId":"HP:0000750","label":"Delayed speech and language","primary":false},{"hpoId":"HP:0011185","label":"EEG with focal epileptiform discharges","primary":false},{"hpoId":"HP:0002427","label":"Expressive aphasia","primary":false},{"hpoId":"HP:0031284","label":"Flushing","primary":false},{"hpoId":"HP:0002349","label":"Focal aware seizure","primary":false},{"hpoId":"HP:0032046","label":"Focal cortical dysplasia","primary":false},{"hpoId":"HP:0032047","label":"Focal cortical dysplasia type I","primary":false},{"hpoId":"HP:0032051","label":"Focal cortical dysplasia type II","primary":false},{"hpoId":"HP:0032052","label":"Focal cortical dysplasia type IIa","primary":false},{"hpoId":"HP:0002384","label":"Focal impaired awareness seizure","primary":false},{"hpoId":"HP:0007359","label":"Focal-onset seizure","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0007206","label":"Hemimegalencephaly","primary":false},{"hpoId":"HP:0001252","label":"Hypotonia","primary":false},{"hpoId":"HP:0002521","label":"Hypsarrhythmia","primary":false},{"hpoId":"HP:0012469","label":"Infantile spasms","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0025373","label":"Interictal EEG abnormality","primary":false},{"hpoId":"HP:0000252","label":"Microcephaly","primary":false},{"hpoId":"HP:0010841","label":"Multifocal epileptiform discharges","primary":false},{"hpoId":"HP:0031951","label":"Nocturnal seizures","primary":false},{"hpoId":"HP:0012531","label":"Pain","primary":false},{"hpoId":"HP:0000980","label":"Pallor","primary":false},{"hpoId":"HP:0003401","label":"Paresthesia","primary":false},{"hpoId":"HP:0002126","label":"Polymicrogyria","primary":false},{"hpoId":"HP:0001250","label":"Seizures","primary":false},{"hpoId":"HP:0011171","label":"Simple febrile seizure","primary":false},{"hpoId":"HP:0000274","label":"Small face","primary":false},{"hpoId":"HP:0002367","label":"Visual hallucination","primary":false}],"ledeHtml":"Familial focal epilepsy with variable foci (FFEVF) is an uncommon form of recurrent seizures (epilepsy) that runs in families. Seizures associated with FFEVF can begin at any time from infancy to adulthood. The seizures are described as focal or partial, which means they begin in one region of the brain and do not cause a loss of consciousness. In more than 70 percent of affected individuals, these seizures begin in one of two areas of the brain, either the temporal lobe or the frontal lobe. The region of the brain where the seizures start tends to stay the same over time. In rare instances, seizure activity that starts in one area spreads to affect the entire brain and causes a loss of consciousness, muscle stiffening, and rhythmic jerking. Episodes that begin as partial seizures and spread throughout the brain are known as secondarily generalized seizures.","mondoId":"MONDO:0020310","records":[{"frequencyKind":"count","key":"01298c135498c14a5fd69c45e90df9798e4bc1adfefad64f5745253886bd6b80","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617118","disease_name":"Epilepsy, familial focal, with variable foci 3","evidence":"IEA","frequency_raw":"3/6","hpo_id":"HP:0032052","is_excluded":false,"label":"Focal cortical dysplasia type IIa","onset_id":null,"reference":"PMID:26285051","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"02ffbd94cc3c1e3b3dda5ae2989345c1dafe7fb19019788008bf0cc10016daa7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617935","disease_name":"Epilepsy, familial focal, with variable foci 4","evidence":"PCS","frequency_raw":"2/4","hpo_id":"HP:0002384","is_excluded":false,"label":"Focal impaired awareness seizure","onset_id":null,"reference":"PMID:24157691","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"08c80d761abb2383ad77c9f998290d0ccbd934c8f7fbf55d84d86f2f03481415","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012005","is_excluded":false,"label":"Deja vu aura","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0b57f4af77ad2a5f3869c37edad31d808a0f492d2432935f8907db3d9811104f","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002367","is_excluded":false,"label":"Visual hallucination","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0f7c217c5b2621cb03b2d5e9a06161476af57af50cfc073b9147496c3646fb72","raw":{"aspect":"P","body_system":"other","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012531","is_excluded":false,"label":"Pain","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"1a62465c07b70c4d8dc370efa04a51837e4f08ad0646e2c3ae293015d7fc6c82","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617935","disease_name":"Epilepsy, familial focal, with variable foci 4","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0007359","is_excluded":false,"label":"Focal-onset seizure","onset_id":null,"reference":"PMID:28235671","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1c16659cd6480bbedc21ebbfbcdb019969b7766cc3533de4ecea93b48c3e25c7","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:604364","disease_name":"Epilepsy, familial focal, with variable foci","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0007206","is_excluded":false,"label":"Hemimegalencephaly","onset_id":null,"reference":"PMID:22497611","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"25a2b57180f75356509876a513d5c5c6aa5254aad1eaa8cd73324fa7e38a54c9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0025373","is_excluded":false,"label":"Interictal EEG abnormality","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"273cd7f9ea4f77bcb60b584603312549d31922d94fe6c598b343c33dae80f69a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000708","is_excluded":false,"label":"Atypical behavior","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2dd0ab79fde47d85dd1e826f262036dea6bcf4e14a3068f879314a7ffa3dd5a9","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:604364","disease_name":"Epilepsy, familial focal, with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000729","is_excluded":false,"label":"Autistic behavior","onset_id":null,"reference":"OMIM:604364","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"2eac0012e88c431785221282843ce9e8a0f7e4fdff7b1a5ae8c8d530294f63b5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003401","is_excluded":false,"label":"Paresthesia","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3110c202be65bbc7b6de97dca9bbb79e6b4a14eade438f5a8c7e98be07d465b5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0007359","is_excluded":false,"label":"Focal-onset seizure","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"337948231965a00eed3d3b2492f02c0f7d338ddf406f48f82672d6a9c5dba1d2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002427","is_excluded":false,"label":"Expressive aphasia","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3c202432d908ebd422bbd07ed69b22bb41f5e5b12027cf64c0fbf9a8c7fec5e8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008765","is_excluded":false,"label":"Auditory hallucination","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"418aa34fa4ebcbda577e6312cc2c9b37601750e0a7b93dde4de2c3c2bfeffab5","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617118","disease_name":"Epilepsy, familial focal, with variable foci 3","evidence":"PCS","frequency_raw":"2/15","hpo_id":"HP:0032046","is_excluded":false,"label":"Focal cortical dysplasia","onset_id":null,"reference":"PMID:27173016","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"46f37fc355c7217dd81dc11ce8124e27415e3556e7e8c03ea3968057fb09bac4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617935","disease_name":"Epilepsy, familial focal, with variable foci 4","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0002069","is_excluded":false,"label":"Bilateral tonic-clonic seizure","onset_id":null,"reference":"PMID:24157691","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"47b4c83e36883b38aaa92594e9b765331728a77ab65c70154371b6337a432692","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617935","disease_name":"Epilepsy, familial focal, with variable foci 4","evidence":"PCS","frequency_raw":"1/5","hpo_id":"HP:0000252","is_excluded":false,"label":"Microcephaly","onset_id":null,"reference":"PMID:24157691;PMID:28235671","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"4a70680d00e6cd4b42f3bbc0a528c2d32bacf195021ec497e1385a2fa99ac62c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617935","disease_name":"Epilepsy, familial focal, with variable foci 4","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0000750","is_excluded":false,"label":"Delayed speech and language development","onset_id":null,"reference":"PMID:24157691","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"505117b5f986fcc8ae8c867fc1dac29db3e01f9185d19f14623cfb36f62d1643","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000980","is_excluded":false,"label":"Pallor","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"52722a8df0b46f3566e8476cdcd2e27a092381bc96a5ccdd43c8dc67a7ae810d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617935","disease_name":"Epilepsy, familial focal, with variable foci 4","evidence":"PCS","frequency_raw":"1/5","hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"PMID:24157691;PMID:28235671","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"60f4ad186110ee9ba3c217f79dfe30636d03feceb1efe198c3d8fec2b9691763","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617935","disease_name":"Epilepsy, familial focal, with variable foci 4","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0007018","is_excluded":false,"label":"Attention deficit hyperactivity disorder","onset_id":null,"reference":"PMID:24157691","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6185908725dbe24ebb74177b814c29b1494213f0147a057ed69e2ce26cd79a7b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:604364","disease_name":"Epilepsy, familial focal, with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"OMIM:604364","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"62e1a0630dd91577219f88e686c7fb4777055e81f799e947fddb5739a33b8544","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:604364","disease_name":"Epilepsy, familial focal, with variable foci","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"OMIM:604364","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"62ff974256f5cdd05a4b6244bd70051202f33ed761fe8ca623576b32e1f13183","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002521","is_excluded":false,"label":"Hypsarrhythmia","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"66b63c131de0a9eaaf01a7063372f36dcaabbf5e4745277d5f02d3422600a93c","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617935","disease_name":"Epilepsy, familial focal, with variable foci 4","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0011171","is_excluded":false,"label":"Simple febrile seizure","onset_id":null,"reference":"PMID:24157691","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"6750f72084441b205d83791c6a19984fa2677203bab483334295f16bac3c03b8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011185","is_excluded":false,"label":"EEG with focal epileptiform discharges","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"76b877bb16f52429b9160a3f11a24c8287cb3d2d2c401e9c583ebd7ef3265d0b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:617935","disease_name":"Epilepsy, familial focal, with variable foci 4","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0001252","is_excluded":false,"label":"Hypotonia","onset_id":null,"reference":"PMID:28235671","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"780b66545e86f26eb870541a6dc77b403769410b34be72ce3995ec1bae503509","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0032046","is_excluded":false,"label":"Focal cortical dysplasia","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"89f1a3e916e7b7749c4b18a8327015d6a9061aba92966ea264b2c77227ac94b6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617935","disease_name":"Epilepsy, familial focal, with variable foci 4","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0006889","is_excluded":false,"label":"Borderline intellectual disability","onset_id":null,"reference":"PMID:24157691","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"8a607659d0bf668676e98a43f634b6b1d7c821ed2a8b096be3f5bf19c1049467","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002349","is_excluded":false,"label":"Focal aware seizure","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8dc2bd5ab86975ea7b03a2cd6ca01e60c53c7acc8bebd4c46bfcd7fd84d0b0ef","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000729","is_excluded":false,"label":"Autistic behavior","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"9ce7ab6afdaccc976e2b8f90147dc7aaf2fe0a90ad73952fca7da2fb22772c57","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:604364","disease_name":"Epilepsy, familial focal, with variable foci","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0032046","is_excluded":false,"label":"Focal cortical dysplasia","onset_id":null,"reference":"PMID:27173016","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"aa5fe8efcd72b3770392ec1b88bbef4aec914069f89a9b32b081466a53abe508","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:617935","disease_name":"Epilepsy, familial focal, with variable foci 4","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0000274","is_excluded":false,"label":"Small face","onset_id":null,"reference":"PMID:28235671","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b7013ce3862c38716b34709d83de46ba9fb75ce5a795480a8e6f492ddd49e7db","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:604364","disease_name":"Epilepsy, familial focal, with variable foci","evidence":"PCS","frequency_raw":"2/7","hpo_id":"HP:0032052","is_excluded":false,"label":"Focal cortical dysplasia type IIa","onset_id":null,"reference":"PMID:25623524","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"b9d95c6e92c494c7562c4c16bbee048c33d2f88596a78e82a008b7f354ba3660","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:604364","disease_name":"Epilepsy, familial focal, with variable foci","evidence":"PCS","frequency_raw":"4/7","hpo_id":"HP:0032051","is_excluded":false,"label":"Focal cortical dysplasia type II","onset_id":null,"reference":"PMID:25623524","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b9e35f337d004333a573f35a5b9c5194a9a842638ebf1edf63d42e0eeaeb1dd0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c347704e7d6f2bb5f7820e85eead9308668b108ae6c11b250252e3f6cf040218","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:604364","disease_name":"Epilepsy, familial focal, with variable foci","evidence":"PCS","frequency_raw":"2/7","hpo_id":"HP:0032047","is_excluded":false,"label":"Focal cortical dysplasia type I","onset_id":null,"reference":"PMID:25623524","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c4c3e6593b480281c6293fe156b7370ee1214077a5b67ad97885bdfd24981d49","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0012469","is_excluded":false,"label":"Infantile spasms","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c7fa4d75e54e353519b0b35f204054dbbc7bf9bb9eae0d9439dc14382f7ac5a0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0011171","is_excluded":false,"label":"Simple febrile seizure","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ca715182a9573b1c4943878bb0dab7ef18221777fc86959e6f668469546295b8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0010841","is_excluded":false,"label":"Multifocal epileptiform discharges","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"cab5e46523c146df39c17e839cc82a502188c28952fe12d81ec8ba5586b8f664","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617116","disease_name":"Epilepsy, familial focal, with variable foci 2","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0032046","is_excluded":false,"label":"Focal cortical dysplasia","onset_id":"HP:0011463","reference":"PMID:27173016","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"cf903dfa507cc9ef71ea143d0593d760a4933eaf983e9ae3236f3d0da9278dd4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617118","disease_name":"Epilepsy, familial focal, with variable foci 3","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"OMIM:617118","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d305c7b9aa64decaec5374ad6d3dd296d442af3282c2bee93566d114a6dad670","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617116","disease_name":"Epilepsy, familial focal, with variable foci 2","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001250","is_excluded":false,"label":"Seizure","onset_id":null,"reference":"OMIM:617116","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d9f8ea95051cb94e2a550bc79d66a8685de8afdb301f42d7ddc705ee145c0107","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002384","is_excluded":false,"label":"Focal impaired awareness seizure","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"db066e14dfd125a1b5057edfa3520ae97a64297533cef990c5ff92aed9f35f83","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0031951","is_excluded":false,"label":"Nocturnal seizures","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"dddc8ee7deaafd50ca25c244377ee4407ac0aa7bdf6b5af846ac4d472083c410","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100543","is_excluded":false,"label":"Cognitive impairment","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"de0ecd592a77a7838bfb443dc92ac4e3dcd587fc596e0c16c23f0a771c02b3d6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002069","is_excluded":false,"label":"Bilateral tonic-clonic seizure","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e202e062ab8406b6ad7754a349185c8990c366bd8bf7fc5ee187fc31a25a2e7a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0007206","is_excluded":false,"label":"Hemimegalencephaly","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ee52ff8939c650f76de08c34ab9245ec15d3a51d5425b5db280943494175ee97","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002126","is_excluded":false,"label":"Polymicrogyria","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"eec800cce7c20413a8ec610860ee248946916bb17d1c5006869f8fdaf6cbc21a","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617935","disease_name":"Epilepsy, familial focal, with variable foci 4","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0012332","is_excluded":false,"label":"Abnormal autonomic nervous system physiology","onset_id":null,"reference":"PMID:28235671","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"efccdfca9d5d4351c0ffe3e3a8774b1dd6427db4f90a666b2df6b73885bdc309","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:98820","disease_name":"Familial focal epilepsy with variable foci","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0031284","is_excluded":false,"label":"Flushing","onset_id":null,"reference":"ORPHA:98820","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"fdf56a2605e2666a23519111840effbf079ede8c402f9eb1a35ca5d2436f6962","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:617935","disease_name":"Epilepsy, familial focal, with variable foci 4","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0020221","is_excluded":false,"label":"Clonic seizure","onset_id":null,"reference":"PMID:24157691","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"feda87be8df3ea9948a0e3dc03959d2f980861b06ad2f80971dacd86315f5abd","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:604364","disease_name":"Epilepsy, familial focal, with variable foci","evidence":"IEA","frequency_raw":"HP:0040283","hpo_id":"HP:0031951","is_excluded":false,"label":"Nocturnal seizures","onset_id":null,"reference":"OMIM:604364","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/familial-focal-epilepsy-with-variable-foci\">Familial focal epilepsy with variable foci</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Most cases of FFEVF are caused by mutations in the DEPDC5 gene with fewer cases caused by mutations in the NPRL2 or NPRL3 gene. These three genes provide instructions for making proteins that attach (bind) to each other to form a protein complex called GATOR1. This complex is found in cells throughout the body, where it regulates a signaling pathway involved in cell growth and division (proliferation), the survival of cells, and the creation (synthesis) of new proteins. The role of the GATOR1 complex is to block (inhibit) this pathway when it is not needed.</p><p>A mutation in any one of the three genes associated with FFEVF reduces GATOR1 complex formation, leading to an abnormally active signaling pathway. It is unclear how overactivity in this pathway leads to the focal seizures of FFEVF. Research suggests that increased signaling in the brain leads to changes in the development of the junctions between nerve cells (synapses) and increased activation (excitation) of nerve cells, which can cause seizures. Increased excitation of nerve cells can also cause enlargement of these cells, which is characteristic of focal cortical dysplasia.</p><p>It is unknown why some individuals with the same mutation have seizures that start in different regions of the brain. Researchers believe that other, unknown genes may influence the features of FFEVF.</p><p>Some individuals with FFEVF do not have an identified mutation in any of these three genes. The cause of the condition in these individuals is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/familial-focal-epilepsy-with-variable-foci/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Familial focal epilepsy with variable foci?"},{"bodyHtml":"<p>Among family members with FFEVF, individuals may not have the same brain region affected (variable foci), meaning that one person&#x27;s seizures may not begin in the same part of the brain as their affected relative.</p><p>Some individuals with FFEVF also have a brain malformation called focal cortical dysplasia. Seizures in these individuals are typically not well-controlled with medication.</p><p>Most people with FFEVF are intellectually normal, and there are no problems with their brain function between seizures. However, some people with FFEVF have developed psychiatric disorders (such as schizophrenia), behavioral problems, or intellectual disability. It is unclear whether these additional features are directly related to epilepsy in these individuals.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/familial-focal-epilepsy-with-variable-foci\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"familial-focal-epilepsy-with-variable-foci","sourceDocuments":[{"name":"Familial focal epilepsy with variable foci","reviewed":"2017-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:22.253291+00:00","label":"Causes","pageSha256":"e7ef00f4f6c578d5481c2035c4218ad4a6521700d80342482cc1bca3a3e50de9","sourceUrl":"https://medlineplus.gov/genetics/condition/familial-focal-epilepsy-with-variable-foci/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/familial-focal-epilepsy-with-variable-foci"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Familial focal epilepsy with variable foci"},"schemaVersion":1}