{"orpha":98820,"name":"Familial focal epilepsy with variable foci","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FFEVF","Familial partial epilepsy with variable foci"],"definition":"Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-98820/","orphanet_url":"https://www.orpha.net/en/disease/detail/98820","names":{"fr":{"name":"Epilepsie focale familiale à foyers variables","synonyms":["Epilepsie partielle familiale à foyers variables","FFEVF"],"definition":"Un trouble génétique épileptique rare caractérisé par une épilepsie focale lésionnelle et non lésionnelle, autosomique dominante, avec une pénétrance variable. Les crises focales proviennent de différentes régions corticales (temporale, frontale, centro-pariétale, pariétale, pariéto-occipitale, occipitale) chez plusieurs membres d'une même famille, mais pour chaque individu, un seul foyer reste constant tout au long de la vie. Le type de convulsions (toniques, tonico-cloniques ou hyperkinétiques) et leur sévérité varient entre les membres de la famille, et tendent à diminuer (mais ne disparaissent pas) à l'âge adulte. Plusieurs patients présentent une aura et des automatismes au cours des crises diurnes, tandis que d'autres ont des crises nocturnes. La plupart des individus a une intelligence normale, mais des patients présentant un déficit intellectuel, un trouble du spectre autistique et un trouble obsessionnel compulsif ont été décrits."},"de":{"name":"Familiäre fokale Epilepsie mit variablen Herden","definition":"Die familiäre fokale Epilepsie mit variablen Herden ist eine seltene genetische Epilepsiestörung, die durch autosomal-dominante läsionelle und non-läsionelle fokale Epilepsie mit variabler Penetranz gekennzeichnet ist. Die fokalen Anfälle gehen bei verschiedenen Familienmitgliedern von unterschiedlichen kortikalen Lokalisationen aus (temporal, frontal, zentroparietal, parietal, parietal-okzipital, okzipital), aber bei jedem Individuum bleibt ein einziger Fokus während des gesamten Lebens konstant. Anfallstyp (tonisch, tonisch-klonisch oder hyperkinetisch) und Schweregrad variieren zwischen den Familienmitgliedern und nehmen im Erwachsenenalter tendenziell ab (verschwinden aber nicht). Viele Patienten haben eine Aura und zeigen Automatismen während der täglichen Anfälle, während andere nächtliche Anfälle haben. Die meisten Betroffenen sind von normaler Intelligenz, aber es wurden auch Patienten mit Intelligenzminderung, Autismus-Spektrum-Störung und Zwangsstörung beschrieben."},"es":{"name":"Epilepsia focal familiar con focos variables","synonyms":["Epilepsia parcial familiar con focos variables","FFEVF"],"definition":"La epilepsia focal familiar con focos variables es un trastorno genético de epilepsia poco frecuente, caracterizado por una epilepsia focal lesional y no lesional autosómica dominante con penetrancia variable. Las crisis focales provienen de diferentes localizaciones corticales (temporal, frontal, centro-parietal, parietal, parieto-occipital, occipital) en diferentes miembros de una familia, pero en cada individuo permanece constante un solo foco durante toda la vida. El tipo de crisis (tónica, tónico-clónica o hipercinética) y la gravedad varía entre miembros de una misma familia con tendencia a disminuir (pero no desaparecer) durante la edad adulta. Muchos afectados presentan aura y automatismos durante las crisis diurnas, mientras que otros tienen crisis nocturnas. La mayoría de los individuos tienen inteligencia normal, pero se han descrito casos de afectados con discapacidad intelectual, trastorno del espectro autista y trastorno obsesivo-compulsivo."},"it":{"name":"Epilessia focale familiare a focali variabili","definition":"L'epilessia focale familiare a focolai variabili è un'epilessia rara di origine genetica, caratterizzata da epilessia focale lesionale e non lesionale autosomica dominante a penetranza variabile. Le crisi focali originano da diverse aree corticali (temporale, frontale, centro-parietale, parietale, parieto-occipitale, occipitale) in diversi membri della stessa famiglia; in ogni paziente il singolo focolaio rimane costante per tutta la vita. Il tipo di crisi epilettiche (toniche, tonico-cloniche o ipercinetiche) e la loro gravità varia tra i membri della stessa famiglia e tende a diminuire (senza scomparire) nell'età adulta. Molti pazienti hanno un'aura e presentano automatismi durante le crisi diurne, mentre altri presentano crisi notturne. La maggioranza dei pazienti ha un'intelligenza normale, ma alcuni presentano disabilità intellettiva, disturbo dello spettro autistico e disturbo ossessivo-compulsivo."},"nl":{"name":"Familiale focale epilepsie met variabele foci","synonyms":["FFEVF","Familiale partiële epilepsie met variabele foci"],"definition":"Familiale focale epilepsie met variabele foci is een zeldzame genetische epilepsie die gekarakteriseerd wordt door autosomaal dominante lesionale en niet-lesionale focale epilepsie met variabele penetrantie. Focale insulten ontstaan uit verschillende corticale locaties (temporaal, frontaal, centropariëtaal, pariëtaal, pariëto-occipitaal, occipitaal) bij verschillende familieleden, maar voor elk individu blijft één enkele bron levenslang onveranderlijk. Het type (tonisch, tonisch-clonisch of hyperkinetisch) en de ernst van de insulten varieert tussen familieleden en de insulten hebben de neiging af te nemen (maar niet te verdwijnen) tijdens de volwassenheid. Vele patiënten hebben een aura en vertonen automatismen tijdens diurnale insulten, terwijl anderen nachtelijke aanvallen hebben. De meeste individuen hebben een normale intelligentie maar er werden ook reeds patiënten beschreven met intellectuele achterstand, autismespectrumstoornis en obsessief-compulsieve stoornis."},"pt":{"name":"Epilepsia parcial familiar com focos variáveis"},"pl":{"name":"Rodzinna ogniskowa padaczka ze zmiennymi ogniskami","synonyms":["FFEVF","Rodzinna częściowa padaczka ze zmiennymi ogniskami"]},"cs":{"name":"Familiární fokální epilepsie s variabilními ložisky","synonyms":["FFEVF","Familiární parciální epilepsie s variabilními ložisky"]},"uk":{"name":"Сімейна фокальна епілепсія зі змінними вогнищами","synonyms":["Сімейна парціальна епілепсія зі змінними вогнищами","FFEVF"],"definition":"Familial focal epilepsy with variable foci is a rare genetic epilepsy disorder characterized by autosomal dominant lesional and nonlesional focal epilepsy with variable penetrance. Focal seizures emanate from different cortical locations (temporal, frontal, centroparietal, parietal, parietaloccipital, occipital) in different family members, but for each individual a single focus remains constant throughout lifetime. Seizure type (tonic, tonic-clonic or hyperkinetic) and severity varies among family members and tends to decrease (but do not disappear) during adulthood. Many patients have an aura and show automatisms during diurnal seizures whereas others have nocturnal seizures. Most individuals are of normal intelligence but patients with intellectual disability, autistic spectrum disorder and obsessive-compulsive disorder have been described."},"zh":{"name":"病灶多变的家族性局灶性癫痫","synonyms":["病灶可变的家族性部分性癫痫"],"definition":"家族性局灶性癫痫是一种罕见的遗传性癫痫疾病，以常染色体显性遗传局灶性癫痫和外显率不全的非皮损性局灶性癫痫为特征。局灶性癫痫发作发生在不同家庭成员的不同皮质部位(颞叶、额叶、顶叶中央、顶叶、顶枕叶、枕叶)，但对于每个人来说，一个病灶终生不变。癫痫发作类型(强直性、强直性阵挛或多动症)和严重程度因家庭成员而异，成年后有减少(但不会消失)的趋势。许多患者有先兆，在白天癫痫发作时表现前驱症状，而另一些患者则有夜间癫痫发作。大多数人智力正常，但也有智力残疾、自闭症谱系障碍和强迫症患者的报道。"},"tr":{"name":"Değişken odaklar ile seyreden ailesel fokal epilepsi","synonyms":["FFEVF","Değişken odaklı ailesel kısmi epilepsi"]}},"xrefs":[{"source":"OMIM","code":"604364","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617116","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617118","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617935","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G40.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"8A61.4Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"855404450"},{"source":"MONDO","code":"0020310","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1858477","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"13295","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":699645,"name":"Variable age-onset epilepsy syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DEPDC5","name":"DEP domain containing 5, GATOR1 subcomplex subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"23542697[PMID]_23542701[PMID]","hgnc":"18423","ensembl":"ENSG00000100150","omim":"614191","loci":["22q12.2-q12.3"]},{"symbol":"NPRL2","name":"NPR2 like, GATOR1 complex subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26505888[PMID]_27173016[PMID]","hgnc":"24969","ensembl":"ENSG00000114388","omim":"607072","loci":["3p21.31"]},{"symbol":"NPRL3","name":"NPR3 like, GATOR1 complex subunit","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"26505888[PMID]_27173016[PMID]","hgnc":"14124","ensembl":"ENSG00000103148","omim":"600928","loci":["16p13.3"]},{"symbol":"SCN3A","name":"sodium voltage-gated channel alpha subunit 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"29466837[PMID]","hgnc":"10590","ensembl":"ENSG00000153253","omim":"182391","loci":["2q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":76.0,"area":"Worldwide","status":"Validated","source":"14510823[PMID]_15329069[PMID]_22780917[PMID]_24814846[PMID]_25623524[PMID]_27066565[PMID]_32848577[PMID]_26505888[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"14510823[PMID]_15329069[PMID]_22780917[PMID]_24814846[PMID]_25623524[PMID]_27066565[PMID]_32848577[PMID]_26505888[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-03-29","source":"27683934[PMID]_30767899[PMID]_28170089[PMID]_10825362[PMID]","terms":[{"hpo":"HP:0011185","label":"EEG with focal epileptiform discharges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007359","label":"Focal-onset seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002069","label":"Bilateral tonic-clonic seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025373","label":"Interictal EEG abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031951","label":"Nocturnal seizures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008765","label":"Auditory hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012005","label":"Deja vu","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031284","label":"Flushing","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002349","label":"Focal aware seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032046","label":"Focal cortical dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002384","label":"Focal impaired awareness seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012469","label":"Infantile spasms","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002427","label":"Motor aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010841","label":"Multifocal epileptiform discharges","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012531","label":"Pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002367","label":"Visual hallucinations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007206","label":"Hemimegalencephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002521","label":"Hypsarrhythmia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002126","label":"Polymicrogyria","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011171","label":"Simple febrile seizure","frequency":"Very rare (<4-1%)","criteria":null}]}}