All individuals with variants in gene SAMD12

35 entries on 1 page. Showing entries 1 - 35.
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00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 1 1 Yu Sun
00155235 control - - - - - - - - - - Healthy/Control - 1 1 Johan den Dunnen
00155236 FamF6906PatII6 PubMed: Ishiura 2018 2-generation family, affected father and 4 sibs (2F, 3M), PatII6 M no Japan - - - - - FAME see paper; ... 1 5 Johan den Dunnen
00155239 FamF6115PatII1 PubMed: Ishiura 2018 2-generation family, affected mother and 2 daughters F no Japan - - - - - FAME - 1 3 Johan den Dunnen
00271475 families PubMed: Ishiura 2018 79 patients from 47 families F;M - Japan - - - - - FAME - 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 1 8 Johan den Dunnen
00271477 Fam1PatIV2 PubMed: Lei 2019 - M - China - - - - no treatment FAME 19y-onset myoclonic tremor; no seizures; EEG normal 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 1 1 Johan den Dunnen
00271479 Fam1PatIV3 PubMed: Lei 2019 - M - China - - - - no treatment FAME no seizures 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 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 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 1 2 Johan den Dunnen
00271486 Fam4PatII8 PubMed: Lei 2019 - F - China - - - - no treatment FAME 30y-onset myoclonic tremor; no seizures 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 1 3 Johan den Dunnen
00271488 Fam5PatII2 PubMed: Lei 2019 - F - China - - - - treatment Arotinolol FAME 20y-onset myoclonic tremor; no seizures 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 1 1 Johan den Dunnen
00271550 FamA PubMed: Cen 2019 - - - China Han - - - - FAME - 1 1 Johan den Dunnen
00271551 FamB PubMed: Cen 2019 5-generation family, 14 affected (5F, 9M) F;M - China Han - - - - FAME - 1 14 Johan den Dunnen
00271552 FamC PubMed: Cen 2019 - - - China Han - - - - FAME - 1 1 Johan den Dunnen
00271553 FamD PubMed: Cen 2019 - - - China Han - - - - FAME - 1 1 Johan den Dunnen
00271554 FamF PubMed: Cen 2019 - - - China Han - - - - FAME - 1 1 Johan den Dunnen
00271555 FamG PubMed: Cen 2019 - - - China Han - - - - FAME - 1 1 Johan den Dunnen
00271556 FamH PubMed: Cen 2019 - - - China Han - - - - FAME - 1 1 Johan den Dunnen
00271557 FamI PubMed: Cen 2019 - - - China Han - - - - FAME - 1 1 Johan den Dunnen
00271558 FamJ PubMed: Cen 2019 3-generation family, 4 affected (F, 3M) F;M - China Han - - - - FAME - 1 1 Johan den Dunnen
00271559 FamK PubMed: Cen 2019 - - - China Han - - - - FAME - 1 4 Johan den Dunnen
00271560 FamL PubMed: Cen 2019 - - - China Han - - - - FAME - 1 1 Johan den Dunnen
00271561 FamM PubMed: Cen 2019 - - - China Han - - - - FAME - 1 1 Johan den Dunnen
00271562 FamN PubMed: Cen 2019 - - - China Han - - - - FAME - 1 1 Johan den Dunnen
00271563 FamO PubMed: Cen 2019 - - - China Han - - - - FAME - 1 1 Johan den Dunnen
00271564 FamP PubMed: Cen 2019 - - - China Han - - - - FAME - 1 1 Johan den Dunnen
00271565 FamQ PubMed: Cen 2019 - - - China Han - - - - FAME - 1 1 Johan den Dunnen
00271566 FamR PubMed: Cen 2019 - - - China Han - - - - FAME - 1 1 Johan den Dunnen
00271567 FamS PubMed: Cen 2019 - - - China Han - - - - FAME - 1 1 Johan den Dunnen
00275484 - - - - - - - - - - - FAME1;FMCTE1 - 1 1 Melanie Bahlo
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