Phenotypes for disease #05408 (FAME (epilepsy, myoclonic, familial adult (FAME)))

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0000127764 epilepsy, myoclonic, familial adult FAME-1 see paper; ... Familial, autosomal dominant - - - - - Johan den Dunnen 00155236
0000127765 benign adult familial myoclonic epilepsy (BAFME) - - Familial, autosomal dominant - - - - - Johan den Dunnen 00155237
0000127766 benign adult familial myoclonic epilepsy (BAFME) - - Familial, autosomal dominant - - - - - Johan den Dunnen 00155238
0000127767 benign adult familial myoclonic epilepsy (BAFME) FAME-1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00155239
0000172985 FMCTE FAME3 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00229779
0000208033 autosomal dominant cortical myoclonus and epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271426
0000208036 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271428
0000208037 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271429
0000208038 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271430
0000208039 familial adult myoclonic epilepsy FAME2 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271431
0000208040 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271432
0000208041 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271433
0000208042 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271434
0000208043 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271435
0000208044 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271436
0000208045 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271437
0000208046 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271438
0000208047 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271439
0000208048 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271440
0000208049 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271441
0000208050 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271442
0000208051 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271443
0000208052 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271444
0000208053 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271445
0000208054 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271446
0000208055 familial adult myoclonic epilepsy FAME2 mean age onset 20y; myoclonus/cortical tremor 2/2, tonic-clonic seizures 1/2, focal seizures 0/2; migraine 1/2 Familial, autosomal dominant - - - - - Johan den Dunnen 00271447
0000208056 familial adult myoclonic epilepsy FAME2 mean age onset 20y; myoclonus/cortical tremor 1/1, tonic-clonic seizures 1/1, focal seizures 0/1; drug resistant epilepsy; ataxia 0/1 Familial, autosomal dominant - - - - - Johan den Dunnen 00271448
0000208057 familial adult myoclonic epilepsy FAME2 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 Familial, autosomal dominant - - - - - Johan den Dunnen 00271449
0000208059 familial adult myoclonic epilepsy FAME3 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271463
0000208060 familial adult myoclonic epilepsy FAME3 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271464
0000208061 familial adult myoclonic epilepsy FAME3 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271465
0000208062 familial cortical myoclonic tremor FAME6 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271467
0000208063 familial cortical myoclonic tremor FAME7 - Isolated (sporadic) - - - - - Johan den Dunnen 00271470
0000208064 familial adult myoclonic epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271475
0000208065 familial cortical myoclonic tremor with epilepsy FAME1 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 Familial, autosomal dominant 50y - - - - Johan den Dunnen 00271476
0000208066 familial cortical myoclonic tremor with epilepsy FAME1 19y-onset myoclonic tremor; no seizures; EEG normal Familial, autosomal dominant 19y - - - - Johan den Dunnen 00271477
0000208067 familial cortical myoclonic tremor with epilepsy FAME1 26y-onset myoclonic tremor; 28y-onset seizures; focal seizures, generalized seizures, >10 seizures/month Familial, autosomal dominant 48y - - - - Johan den Dunnen 00271478
0000208068 familial cortical myoclonic tremor with epilepsy FAME1 no seizures Familial, autosomal dominant 17y - - - - Johan den Dunnen 00271479
0000208069 familial cortical myoclonic tremor with epilepsy FAME1 35y-onset myoclonic tremor; 35y-onset seizures; generalized seizures, 1 seizure/year Familial, autosomal dominant 70y - - - - Johan den Dunnen 00271480
0000208070 familial cortical myoclonic tremor with epilepsy FAME1 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 Familial, autosomal dominant 45y - - - - Johan den Dunnen 00271481
0000208071 familial cortical myoclonic tremor with epilepsy FAME7 30y-onset myoclonic tremor; 31y-onset seizures; generalized seizures, 3 seizures/month Familial, autosomal dominant 63y - - - - Johan den Dunnen 00271482
0000208072 familial cortical myoclonic tremor with epilepsy FAME7 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 Familial, autosomal dominant 31y - - - - Johan den Dunnen 00271483
0000208073 familial cortical myoclonic tremor with epilepsy FAME7 37y-onset myoclonic tremor; 37y-onset seizures; generalized seizures, 20 seizures/15 years Familial, autosomal dominant 53y - - - - Johan den Dunnen 00271484
0000208074 familial cortical myoclonic tremor with epilepsy FAME1 20y-onset myoclonic tremor; 22y-onset seizures; focal seizures, generalized seizures, 0–2/year; EEG occipital and temporal spikes Familial, autosomal dominant 42y - - - - Johan den Dunnen 00271485
0000208075 familial cortical myoclonic tremor with epilepsy FAME1 30y-onset myoclonic tremor; no seizures Familial, autosomal dominant 33y - - - - Johan den Dunnen 00271486
0000208076 familial cortical myoclonic tremor with epilepsy FAME1 30y-onset myoclonic tremor; 60y-onset seizures; generalized seizures Familial, autosomal dominant 78y - - - - Johan den Dunnen 00271487
0000208077 familial cortical myoclonic tremor with epilepsy FAME1 20y-onset myoclonic tremor; no seizures Familial, autosomal dominant 48y - - - - Johan den Dunnen 00271488
0000208078 familial cortical myoclonic tremor with epilepsy FAME1 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 Familial, autosomal dominant 41y - - - - Johan den Dunnen 00271489
0000208124 benign adult familial myoclonic epilepsy FAME4 15/15 cortical tremor, 10/15 seizures Familial, autosomal dominant - - - - - Johan den Dunnen 00271537
0000208126 cortical myoclonic tremor and epilepsy - 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 Familial, autosomal recessive 21y-39y - - - - Johan den Dunnen 00271548
0000208127 familial cortical myoclonic tremor with epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271550
0000208128 familial cortical myoclonic tremor with epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271551
0000208129 familial cortical myoclonic tremor with epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271552
0000208130 familial cortical myoclonic tremor with epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271553
0000208131 familial cortical myoclonic tremor with epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271554
0000208132 familial cortical myoclonic tremor with epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271555
0000208133 familial cortical myoclonic tremor with epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271556
0000208134 familial cortical myoclonic tremor with epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271557
0000208135 familial cortical myoclonic tremor with epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271558
0000208136 familial cortical myoclonic tremor with epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271559
0000208137 familial cortical myoclonic tremor with epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271560
0000208138 familial cortical myoclonic tremor with epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271561
0000208139 familial cortical myoclonic tremor with epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271562
0000208140 familial cortical myoclonic tremor with epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271563
0000208141 familial adult myoclonic epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271564
0000208142 familial adult myoclonic epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271565
0000208143 familial adult myoclonic epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271566
0000208144 familial adult myoclonic epilepsy FAME1 - Familial, autosomal dominant - - - - - Johan den Dunnen 00271567
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