Disease #05408 (FAME (epilepsy, myoclonic, familial adult (FAME)))

Official abbreviation FAME
Name epilepsy, myoclonic, familial adult (FAME)
OMIM ID -
Inheritance -
Individuals reported having this disease 69
Phenotype entries for this disease 68
Associated with 7 genes CTNND2, MARCH6, RAPGEF2, SAMD12, STARD7, TNRC6A, YEATS2
Associated tissues -
Disease features autosomal dominant; myoclonic tremor (cortical tremor), infrequent epilepsy with benign clinical course
Remarks alias familial essential myoclonus and epilepsy; cortical tremor; benign adult familial myoclonic epilepsy (BAFME); familial adult myoclonic epilepsy (FAME); autosomal dominant cortical tremor, myoclonus and epilepsy; familial cortical myoclonic tremor with epilepsy (FCMTE)
Date created 2018-03-18 16:17:05 +01:00 (CET)
Date last edited 2021-10-25 15:27:58 +02:00 (CEST)


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69 entries on 1 page. Showing entries 1 - 69.
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00155236 FamF6906PatII6 PubMed: Ishiura 2018 2-generation family, affected father and 4 sibs (2F, 3M), PatII6 M no Japan - - - - - FAME see paper; ... SAMD12 SAMD12 1 5 Johan den Dunnen
00155237 29507423-FamF9283 PubMed: Ishiura 2018 4-generation family, 7 affecteds (5F, 2M) F;M no Japan - - - - - FAME - TNRC6A - - 7 Johan den Dunnen
00155238 29507423-FamF8241 PubMed: Ishiura 2018 2-generation family, 2 affecteds (2M) M no Japan - - - - - FAME - RAPGEF2 - - 2 Johan den Dunnen
00155239 FamF6115PatII1 PubMed: Ishiura 2018 2-generation family, affected mother and 2 daughters F no Japan - - - - - FAME - SAMD12 SAMD12 1 3 Johan den Dunnen
00229779 FamFMTCE3/Fam3 PubMed: van Rootselaar 2017, PubMed: Florion 2019 5-generation family, 18 affected F;M no Netherlands - - - - - FAME see paper; ..., tremulous movements, either in combination with electrophysiologic features of cortical reflex myoclonus including giant-somatosensory evoked potential and long latency reflex, or in combination with history of generalized epileptic seizures, and exclusion of other causes of tremor/myoclonus/epilepsy CTNND2 A4GNT, CTNND2, KANK1, MARCH6, WWOX 5 18 Johan den Dunnen
00271426 FamA/Fam4 PubMed: De Fusco 2014, PubMed: Corbett 2019 5-generation family, 11 affected (6F, 5M) F;M - Italy - - - - - FAME mean age onset 22.3y (12-50y); myoclonus/cortical tremor 11/11, tonic-clonic seizures 11/11, focal seizures 3/11; intellectual disability mild 3/11, moderate 1/11; dementia 0/11; drug resistant epilepsy 2/11; ataxia 0/11 ADRA2B, STARD7 ADRA2B, STARD7 2 11 Johan den Dunnen
00271428 Fam1PatIV98 PubMed: Corbett 2019 multi-generation family, 55 affected, PatIV98 M - Australia;New Zealand white, European - - - - FAME mean age onset 18.6y (4-60y); myoclonus/cortical tremor 55/55, tonic-clonic seizures 8/55, focal seizures 2/55; intellectual disability 0/55; dementia 1/55 (88y); drug resistant epilepsy 0/55; ataxia 0/55migraine: 18/55 STARD7 STARD7 1 55 Johan den Dunnen
00271429 Fam2 PubMed: Corbett 2019 family, 2 affected - - Italy - - - - - FAME mean age onset 15-25y; myoclonus/cortical tremor 2/2, tonic-clonic seizures 2/2, focal seizures 0/2; intellectual disability 0/2; dementia 0/2; drug resistant epilepsy 0/2; ataxia 0/2psychiatric symptoms 1/2 STARD7 STARD7 1 2 Johan den Dunnen
00271430 Fam3 PubMed: Corbett 2019 multi-generation family, 4 affected - - Italy - - - - - FAME mean age onset 2-18y; myoclonus/cortical tremor 4/4, tonic-clonic seizures 4/4, focal seizures 2/4; intellectual disability mild/moderate 1/4, borderline 1/4; dementia 0/4; drug resistant epilepsy 4/4; ataxia 0/4prominent visuospatial impairment 4/4; psychiatric symptoms (reoccurring thoughts and compulsive behaviour) 1/4 STARD7 STARD7 1 4 Johan den Dunnen
00271431 Fam5PatIII37 PubMed: Corbett 2019 PatIII37 F - Italy - - - - - FAME - STARD7 STARD7 1 1 Johan den Dunnen
00271432 Fam5 PubMed: Corbett 2019 multi-generation family, 25 affected - - Italy - - - - - FAME mean age onset 26.6y (5-40y); myoclonus/cortical tremor 25/25, tonic-clonic seizures 10/25, focal seizures 0/25; intellectual disability 1/16; dementia 1/16 (58y); drug resistant epilepsy 0/16; ataxia 1/16migraine/headache: 4/16; psychiatric disorders (depression and/or anxiety with panic attacks) 6/16 STARD7 STARD7 1 25 Johan den Dunnen
00271433 Fam6 PubMed: Corbett 2019 multi-generation family, 12 affected - - Italy - - - - - FAME mean age onset 12y (8-18y); myoclonus/cortical tremor 11/12, tonic-clonic seizures 6/12, focal seizures 1/12; intellectual disability 0/3; dementia 0/3; drug resistant epilepsy 1/3; ataxia 2/3migraine/headache: 2/3; psychiatric disorders 1/3 STARD7 STARD7 1 12 Johan den Dunnen
00271434 Fam7 PubMed: Corbett 2019 multi-generation family, 4 affected - - Italy - - - - - FAME mean age onset 22.75y (10-36y); myoclonus/cortical tremor 4/4, tonic-clonic seizures 3/4, focal seizures 0/4; intellectual disability 0/4; drug resistant epilepsy 0/4psychiatric disorders 1/4 STARD7 STARD7 1 4 Johan den Dunnen
00271435 Fam8 PubMed: Corbett 2019 multi-generation family, 10 affected - - Italy - - - - - FAME mean age onset 18.5y (17-20y); myoclonus/cortical tremor 6/6, tonic-clonic seizures 4/6, focal seizures 0/6; intellectual disability 0/6; dementia 1/6 (onset >70y); drug resistant epilepsy 0/6; ataxia 0/6 STARD7 STARD7 1 10 Johan den Dunnen
00271436 Fam9 PubMed: Corbett 2019 multi-generation family, 13 affected - - Italy - - - - - FAME mean age onset 17y (12-22y); myoclonus/cortical tremor 11/11, tonic-clonic seizures 9/11, focal seizures 0/14; intellectual disability 0/11; dementia 0/11; drug resistant epilepsy 0/11; ataxia 0/11 STARD7 STARD7 1 13 Johan den Dunnen
00271437 Fam10 PubMed: Corbett 2019 multi-generation family, 16 affected - - Italy - - - - - FAME mean age onset 15.8y (13-20y); myoclonus/cortical tremor 14/14, tonic-clonic seizures 10/14, focal seizures 0/14; intellectual disability 0/14; dementia 1/14 (onset >70y); drug resistant epilepsy 0/14; ataxia 0/14 STARD7 STARD7 1 16 Johan den Dunnen
00271438 Fam11 PubMed: Corbett 2019 multi-generation family, 10 affected - - Italy - - - - - FAME mean age onset 15.5y (13-18y); myoclonus/cortical tremor 5/5, tonic-clonic seizures 4/5, focal seizures 0/5; intellectual disability 0/5; dementia 1/5 (>70y); drug resistant epilepsy 0/5; ataxia 0/5 STARD7 STARD7 1 10 Johan den Dunnen
00271439 Fam12 PubMed: Corbett 2019 multi-generation family, 21 affected - - Italy - - - - - FAME mean age onset 39.2y (24-56y); myoclonus/cortical tremor 17/17, tonic-clonic seizures 13/17, focal seizures 0/17; intellectual disability 0/5; dementia 0/17; drug resistant epilepsy 1/17; ataxia 0/17 STARD7 STARD7 1 21 Johan den Dunnen
00271440 Fam13 PubMed: Corbett 2019 multi-generation family, 3 affected - - Italy - - - - - FAME mean age onset 17.7y (12-23y); myoclonus/cortical tremor 3/3, tonic-clonic seizures 1/3, focal seizures 0/3; intellectual disability 0/3; dementia 0/3; drug resistant epilepsy 0/3; ataxia 0/3 STARD7 STARD7 1 3 Johan den Dunnen
00271441 Fam14 PubMed: Corbett 2019 multi-generation family, 3 affected - - Italy - - - - - FAME mean age onset 16.3y (15-18y); myoclonus/cortical tremor 3/3, tonic-clonic seizures 3/3, focal seizures 0/3; intellectual disability 0/3; dementia 0/3; drug resistant epilepsy 0/3; ataxia 0/3 STARD7 STARD7 1 3 Johan den Dunnen
00271442 FamB/Fam15 PubMed: De Fusco 2014, PubMed: Corbett 2019 4-generation family, 5 affected (3F, 2M) F;M no Italy - - - - - FAME mean age onset 30.3y (18-49y); myoclonus/cortical tremor 4/4, tonic-clonic seizures 3/4, focal seizures 2/4; intellectual disability 0/4; dementia 0/4; drug resistant epilepsy 2/4; ataxia 0/4 ADRA2B, STARD7 ADRA2B, STARD7 2 4 Johan den Dunnen
00271443 Fam16 PubMed: Corbett 2019 multi-generation family, 15 affected - - Iraq Jewish-Sephardic - - - - FAME mean age onset 21y (12-32y); myoclonus/cortical tremor 10/10, tonic-clonic seizures 4/10, focal seizures 2/10; intellectual disability 0/10; dementia 0/8 (2 deceased unknown); drug resistant epilepsy 1/10; ataxia 0/10 STARD7 STARD7 1 15 Johan den Dunnen
00271444 Fam17 PubMed: Corbett 2019 family, 2 affected - - Israel Jewish-Sephardic - - - - FAME mean age onset 21y (21y); myoclonus/cortical tremor 2/2, tonic-clonic seizures 2/2, focal seizures 0/2; intellectual disability 0/2; dementia 0/2; drug resistant epilepsy 0/2; ataxia 0/2 STARD7 STARD7 1 2 Johan den Dunnen
00271445 Fam18 PubMed: Corbett 2019 multi-generation family, 24 affected - - South Africa white, European - - - - FAME mean age onset 15.8y (11-20y); myoclonus/cortical tremor 15/15, tonic-clonic seizures 7/15, focal seizures 1/15; intellectual disability 0/15; dementia 0/15; drug resistant epilepsy 0/15; ataxia 0/15lower limb myoclonus 1/15 STARD7 STARD7 1 24 Johan den Dunnen
00271446 Fam19 PubMed: Corbett 2019 multi-generation family, 13 affected - - France;Spain - - - - - FAME mean age onset 41y (30-60y); myoclonus/cortical tremor 13/13, tonic-clonic seizures 8/13, focal seizures 0/13; intellectual disability 0/10; dementia 0/10; drug resistant epilepsy 0/10; ataxia 0/10 STARD7 STARD7 1 13 Johan den Dunnen
00271447 Fam20 PubMed: Corbett 2019 multi-generation family, 7 affected - - France;Spain - - - - - FAME mean age onset 20y; myoclonus/cortical tremor 2/2, tonic-clonic seizures 1/2, focal seizures 0/2; migraine 1/2 STARD7 STARD7 1 7 Johan den Dunnen
00271448 Fam21 PubMed: Corbett 2019 2-generation family, 1 affected - - Syria - - - - - FAME mean age onset 20y; myoclonus/cortical tremor 1/1, tonic-clonic seizures 1/1, focal seizures 0/1; drug resistant epilepsy; ataxia 0/1 STARD7 STARD7 1 1 Johan den Dunnen
00271449 Fam22 PubMed: Corbett 2019 5-generation family, 11 affected (3F, 8M) F;M - Italy - - - - - FAME mean age onset 25.1y (14-39,40y); myoclonus/cortical tremor 9/10, tonic-clonic seizures 4/10, focal seizures 1/10; intellectual disability 2/10; dementia 0/10; drug resistant epilepsy 1/10; ataxia 0/10psychiatric symptoms 2/10; epileptic spasms 2/10 STARD7 STARD7 1 11 Johan den Dunnen
00271463 Fam1 PubMed: Florion 2019 5-generation family, 17 affected (6F, 11M) F;M - France - - - - - FAME - MARCH6 MARCH6 1 17 Johan den Dunnen
00271464 Fam2 PubMed: Florion 2019 6-generation family, 9 affected (2F, 7M) F;M - France - - - - - FAME - MARCH6 MARCH6 1 9 Johan den Dunnen
00271465 Fam4 PubMed: Florion 2019 4-generation family, 3 affected (3M) M - Germany - - - - - FAME - MARCH6 MARCH6 1 3 Johan den Dunnen
00271467 F9283 PubMed: Ishiura 2018 3-generation family, 5 affected (4F, 1M) F;M no Japan - - - - - FAME - TNRC6A TNRC6A 1 5 Johan den Dunnen
00271470 F8241 PubMed: Ishiura 2018 2-generation family, 1 affected M no Japan - - - - - FAME - RAPGEF2 RAPGEF2 2 2 Johan den Dunnen
00271475 families PubMed: Ishiura 2018 79 patients from 47 families F;M - Japan - - - - - FAME - SAMD12 SAMD12 1 79 Johan den Dunnen
00271476 Fam1PatIII8 PubMed: Lei 2019 4-generation family, 8 affected (5F, 3M) F - China - - - - treatment sodium valproate effective (except for myoclonic tremor), clonazepam, Arotinolol, Paroxetine FAME 30y-onset myoclonic tremor; 34y-onset seizures; focal seizures (visual), generalized seizures preceded by myoclonus, 5 seizures/year; EEG occipital and temporal spikes, frequent burst of generalized spike and wave complexes or generalized polyspike and wave complexes SAMD12 SAMD12 1 8 Johan den Dunnen
00271477 Fam1PatIV2 PubMed: Lei 2019 - M - China - - - - no treatment FAME 19y-onset myoclonic tremor; no seizures; EEG normal SAMD12 SAMD12 1 1 Johan den Dunnen
00271478 Fam1PatIII9 PubMed: Lei 2019 - F - China - - - - treatment sodium valproate effective (except for myoclonic tremor), clonazepam FAME 26y-onset myoclonic tremor; 28y-onset seizures; focal seizures, generalized seizures, >10 seizures/month SAMD12 SAMD12 1 1 Johan den Dunnen
00271479 Fam1PatIV3 PubMed: Lei 2019 - M - China - - - - no treatment FAME no seizures SAMD12 SAMD12 1 1 Johan den Dunnen
00271480 Fam2PatII1 PubMed: Lei 2019 4-generation family, 7 affected (4F, 3M) M - China - - - - treatment sodium valproate effective (except for myoclonic tremor) FAME 35y-onset myoclonic tremor; 35y-onset seizures; generalized seizures, 1 seizure/year SAMD12 SAMD12 1 7 Johan den Dunnen
00271481 Fam2PatIII1 PubMed: Lei 2019 - M - China - - - - treatment sodium valproate effective (except for myoclonic tremor), clonazepam FAME 30y-onset myoclonic tremor; 30y-onset seizures; generalized seizures, 2 seizures/month; EEG frequent burst of generalized spike and wave complexes or generalized polyspike and wave complexes SAMD12 SAMD12 1 1 Johan den Dunnen
00271482 Fam3PatII8 PubMed: Lei 2019 4-generation family, 6 affected (4F, 2M) M - China - - - - treatment sodium valproate effective FAME 30y-onset myoclonic tremor; 31y-onset seizures; generalized seizures, 3 seizures/month RAPGEF2 RAPGEF2 1 6 Johan den Dunnen
00271483 Fam3PatIII4 PubMed: Lei 2019 - M - China - - - - treatment sodium valproate effective FAME 29y-onset myoclonic tremor; 23y-onset seizures; generalized seizures, 3 seizures/8 years; EEG burst of or continuous generalized spike and wave complexes or generalized polyspike and wave complexes RAPGEF2 RAPGEF2 1 1 Johan den Dunnen
00271484 Fam3PatIII1 PubMed: Lei 2019 - M - China - - - - treatment sodium valproate effective (except for myoclonic tremor) FAME 37y-onset myoclonic tremor; 37y-onset seizures; generalized seizures, 20 seizures/15 years RAPGEF2 RAPGEF2 1 1 Johan den Dunnen
00271485 Fam4PatII4 PubMed: Lei 2019 4-generation family, 2 affected (2F) F - China - - - - treatment sodium valproate effective (except for myoclonic tremor), clonazepam, Quetiapine FAME 20y-onset myoclonic tremor; 22y-onset seizures; focal seizures, generalized seizures, 0–2/year; EEG occipital and temporal spikes SAMD12 SAMD12 1 2 Johan den Dunnen
00271486 Fam4PatII8 PubMed: Lei 2019 - F - China - - - - no treatment FAME 30y-onset myoclonic tremor; no seizures SAMD12 SAMD12 1 1 Johan den Dunnen
00271487 Fam5PatI2 PubMed: Lei 2019 4-generation family, 3 affected (2F, M) F - China - - - - treatment sodium valproate effective (except for myoclonic tremor) FAME 30y-onset myoclonic tremor; 60y-onset seizures; generalized seizures SAMD12 SAMD12 1 3 Johan den Dunnen
00271488 Fam5PatII2 PubMed: Lei 2019 - F - China - - - - treatment Arotinolol FAME 20y-onset myoclonic tremor; no seizures SAMD12 SAMD12 1 1 Johan den Dunnen
00271489 Fam5PatII5 PubMed: Lei 2019 - M - China - - - - treatment sodium valproate effective (except for myoclonic tremor), carbamazepin FAME 20y-onset myoclonic tremor; 38y-onset seizures; focal seizures (autonomic), 6 times/month; generalized seizures preceded by myoclonus, 1 seizure/year; EEG unilateral frontal dominant slow waves before jerks SAMD12 SAMD12 1 1 Johan den Dunnen
00271537 FamPatIII4 PubMed: Yeetong 2019 3-generation family, 15 affected (6F, 9M), PatIII4 M no Thailand - - - - - FAME 15/15 cortical tremor, 10/15 seizures YEATS2 YEATS2 2 15 Johan den Dunnen
00271548 family PubMed: Stogmann 2013 5-generation family, 5 affected sibs (4F, M), unaffected heterozygous carrier parents/relatives F;M yes Egypt - - - - - FAME see paper; ..., 5/5 generalized tonic clonic seizure, 5/5 cortical tremor, 4/5 complex partial seizure, 3/5 myoclonic jerks, 3/5 aura, 2/5 neuropsychiatric symptoms, IQ 78-86 CNTN2 CNTN2, DDX59, TNNI1 3 5 Johan den Dunnen
00271549 FamPats PubMed: Yeetong 2019 - - - Thailand - - - - - FAME - YEATS2 YEATS2 2 14 Johan den Dunnen
00271550 FamA PubMed: Cen 2019 - - - China Han - - - - FAME - SAMD12 SAMD12 1 1 Johan den Dunnen
00271551 FamB PubMed: Cen 2019 5-generation family, 14 affected (5F, 9M) F;M - China Han - - - - FAME - SAMD12 SAMD12 1 14 Johan den Dunnen
00271552 FamC PubMed: Cen 2019 - - - China Han - - - - FAME - SAMD12 SAMD12 1 1 Johan den Dunnen
00271553 FamD PubMed: Cen 2019 - - - China Han - - - - FAME - SAMD12 SAMD12 1 1 Johan den Dunnen
00271554 FamF PubMed: Cen 2019 - - - China Han - - - - FAME - SAMD12 SAMD12 1 1 Johan den Dunnen
00271555 FamG PubMed: Cen 2019 - - - China Han - - - - FAME - SAMD12 SAMD12 1 1 Johan den Dunnen
00271556 FamH PubMed: Cen 2019 - - - China Han - - - - FAME - SAMD12 SAMD12 1 1 Johan den Dunnen
00271557 FamI PubMed: Cen 2019 - - - China Han - - - - FAME - SAMD12 SAMD12 1 1 Johan den Dunnen
00271558 FamJ PubMed: Cen 2019 3-generation family, 4 affected (F, 3M) F;M - China Han - - - - FAME - SAMD12 SAMD12 1 1 Johan den Dunnen
00271559 FamK PubMed: Cen 2019 - - - China Han - - - - FAME - SAMD12 SAMD12 1 4 Johan den Dunnen
00271560 FamL PubMed: Cen 2019 - - - China Han - - - - FAME - SAMD12 SAMD12 1 1 Johan den Dunnen
00271561 FamM PubMed: Cen 2019 - - - China Han - - - - FAME - SAMD12 SAMD12 1 1 Johan den Dunnen
00271562 FamN PubMed: Cen 2019 - - - China Han - - - - FAME - SAMD12 SAMD12 1 1 Johan den Dunnen
00271563 FamO PubMed: Cen 2019 - - - China Han - - - - FAME - SAMD12 SAMD12 1 1 Johan den Dunnen
00271564 FamP PubMed: Cen 2019 - - - China Han - - - - FAME - SAMD12 SAMD12 1 1 Johan den Dunnen
00271565 FamQ PubMed: Cen 2019 - - - China Han - - - - FAME - SAMD12 SAMD12 1 1 Johan den Dunnen
00271566 FamR PubMed: Cen 2019 - - - China Han - - - - FAME - SAMD12 SAMD12 1 1 Johan den Dunnen
00271567 FamS PubMed: Cen 2019 - - - China Han - - - - FAME - SAMD12 SAMD12 1 1 Johan den Dunnen
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