All individuals with variants in gene STARD7

23 entries on 1 page. Showing entries 1 - 23.
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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 1 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 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 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 1 4 Johan den Dunnen
00271431 Fam5PatIII37 PubMed: Corbett 2019 PatIII37 F - Italy - - - - - FAME - 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 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 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 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 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 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 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 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 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 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 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 1 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 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 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 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 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 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 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 1 11 Johan den Dunnen
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