All individuals with variants in gene KCNT1

28 entries on 1 page. Showing entries 1 - 28.
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00116812 S_120:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116818 S_13:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116827 S_148:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116830 S_152:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116837 S_167:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116846 S_183:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 2 1 Dheeraj Bobbili
00116895 S_294:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116910 S_321:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116926 S_362:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116965 S_463:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116970 S_478:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00116977 S_491:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 2 1 Dheeraj Bobbili
00117003 S_532:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00117077 S_676:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - 0 - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117122 S_98:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - 0 - - Healthy/Control - 1 1 Dheeraj Bobbili
00183676 27620904-Pat21 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - 0 - - ID - 1 1 Johan den Dunnen
00294803 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 9 Mohammed Faruq
00294804 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00299688 - - - F - - - - 0 - - ? Epileptic encephalopathy (HP:0200134); Abnormality of the nervous system (HP:0000707) 1 1 Andreas Laner
00303151 T2542 PubMed: Carvill 2013 - - - - - - 0 - - EE epileptic encephalopathy 1 1 Johan den Dunnen
00303152 T16275 PubMed: Carvill 2013 - - - - - - 0 - - EE epileptic encephalopathy 1 1 Johan den Dunnen
00303153 T17135 PubMed: Carvill 2013 - - - - - - 0 - - EE epileptic encephalopathy 1 1 Johan den Dunnen
00305983 Pat14 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Denmark - - 0 - - epilepsy - 1 1 Johan den Dunnen
00305984 Pat15 PubMed: Johannesen 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Denmark - - 0 - - epilepsy - 1 1 Johan den Dunnen
00305985 Pat16 PubMed: Johannesen 2020 - F - Denmark - - 0 - - epilepsy - 1 1 Johan den Dunnen
00314742 - - - F - - - - 0 - - ? Breast carcinoma (HP:0003002); Seizures (HP:0001250) 1 1 Andreas Laner
00314882 Trio53 PubMed: Zhu 2015 - F - United States - - 0 - - ? Progressive epileptic encephalopathy with neurological decline beginning around 2.5 to 3 years of age. 1 1 Johan den Dunnen
00324870 Fam3 Journal: Schalk 2020, PubMed: Schalk 2022 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - 0 - - NDD see paper; ..., birth 38w, weight -0.5SD, length -1SD, OFC -0.2SD; 7y-weight -2.7SD, 7y-length -2.8SD, 7y-OFC +0.5SD; severe intellectual disability/developemental delay; seizures; motor delay; 20m-walk; speech delay; autistic behaviour; no hyperactivity; feeding difficulties; sleeping disturbance; no prominent forehead; almond eyes; flat nasal bridge; thin upper lip; epicanthus; hypothyroidy, periodic fever 1 1 Johan den Dunnen
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