All individuals with variants in gene GRIN2A

257 entries on 3 pages. Showing entries 1 - 100.
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AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 4 1 Yu Sun
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) 3 1 Yu Sun
00016325 - - Diagnosis: Benign epilepsy of childhood with centrotempral spikes (BECTS) M no Italy - - - - - ? benign childhood epilepsy with centro-temporal spikes (BCECTS) 1 1 Lab Zuffardi
00016327 - - - M yes - - - - - - EE epileptic encephalopathy with severe cognitive impairment 1 1 Lab Zuffardi
00017834 - PubMed: Endele 2010 3-generation family, 3 affecteds (son, mother, grandmother) M no Germany - - - - - ID see paper; learning difficulties, mild/moderate mental retardation, EEG anomalies, childhood seizures, etc. 2 3 Johan den Dunnen
00017835 - PubMed: Endele 2010 - F no France - - - - - ID see paper; severe mental retardation, 3m-first seizure; epileptic spasms, myoclonies/frequent massive myoclonies until present; EEG anomalies slowing, bilateral independent posterior spikes, behavioral anomalies; muscle hypotonia; no MRI anomalies; no facial dysmorphism 1 1 Johan den Dunnen
00074422 - - - M no Spain - - - - - FESD, ID - 1 1 NeuroMeGen
00116856 S_200:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116861 S_217:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116871 S_238:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116899 S_301:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116937 S_393:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116954 S_436:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116963 S_461:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116968 S_470:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00117019 S_569:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117035 S_596:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117036 S_597:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117037 S_598:0/1:ATYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic atypical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117044 S_610:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117045 S_611:0/1:ATYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic atypical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117054 S_627:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117063 S_642:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117077 S_676:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117078 S_678:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117085 S_702:0/1:ATYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic atypical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117097 S_724:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117116 S_758:0/1:ATYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic atypical Rolandic epilepsy 1 1 Dheeraj Bobbili
00183059 23033978-Trio52 PubMed: de Ligt 2012 - F - Netherlands - - - - - ID see paper; … 1 1 Johan den Dunnen
00183061 23033978-Trio58 PubMed: de Ligt 2012 - F - Netherlands - - - - - ID see paper; … 1 1 Johan den Dunnen
00207925 - - - M - Germany - - - - - - HP:0001263 (Global developmental delay); HP:0007359 (Focal seizures) 1 1 Andreas Laner
00209022 28771251-Pat37 PubMed: Lionel 2018 - M - Canada - - - - - epilepsy epilepsy 1 1 Johan den Dunnen
00276029 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Epileptic encephalopathy (HP:0200134); Seizures (HP:0001250) 1 1 IMGAG
00291608 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 7 Mohammed Faruq
00291609 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 4 Mohammed Faruq
00291610 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 10 Mohammed Faruq
00296796 Fam1 PubMed: Lesca 2013 3-generation family, 7 affected - - France - - - - - EE ee paper; ..., continuous spike and wave during slow-wave sleep syndrome, Landau-Kleffner syndrome, atypical Rolandic epilepsy, dysphasia 1 7 Johan den Dunnen
00296797 Fam2 PubMed: Lesca 2013 2-generation family, 3 affected - - - - - - - - EE see paper; ..., continuous spike and wave during slow-wave sleep syndrome, verbal dyspraxia 1 3 Johan den Dunnen
00296798 Fam3 PubMed: Lesca 2013 2-generation family, 3 affected - - - - - - - - EE see paper; ..., Landau-Kleffner syndrome, verbal dyspraxia 1 3 Johan den Dunnen
00296799 Fam4 PubMed: Lesca 2013 2-generation family, 3 affected - - - - - - - - EE see paper; ..., continuous spike and wave during slow-wave sleep syndrome, benign childhood epilepsy 1 3 Johan den Dunnen
00296800 Fam5 PubMed: Lesca 2013 2-generation family, 2 affected - - - - - - - - EE see paper; ..., Landau-Kleffner syndrome 1 2 Johan den Dunnen
00296801 Fam6 PubMed: Lesca 2013 2-generation family, 2 affected - - - - - - - - EE see paper; ..., continuous spike and wave during slow-wave sleep syndrome, atypical Rolandic epilepsy, dysphasia 1 2 Johan den Dunnen
00296802 Fam7 PubMed: Lesca 2013 2-generation family, 3 affected - - - - - - - - EE see paper; ..., continuous spike and wave during slow-wave sleep syndrome, atypical Rolandic epilepsy, verbal dyspraxia 1 3 Johan den Dunnen
00296803 Fam8 PubMed: Lesca 2013 2-generation family, 2 affected - - - - - - - - EE see paper; ..., atypical Rolandic epilepsy, verbal dyspraxia 1 2 Johan den Dunnen
00296804 Fam9 PubMed: Lesca 2013 2-generation family, 2 affected - - - - - - - - EE see paper; ..., Atypical Rolandic epilepsy, absence epilepsy 1 2 Johan den Dunnen
00296805 Fam10 PubMed: Roll 2006, PubMed: Lesca 2013 3-generation family, 11 affected (7F, 4M) F;M - France - - - - - EE see paper; ..., Atypical Rolandic epilepsy, verbal dyspraxia 1 10 Johan den Dunnen
00296806 Pat1 PubMed: Lesca 2013 - - - - - - - - - EE see paper; ..., Landau-Kleffner syndrome 1 1 Johan den Dunnen
00296807 Pat2 PubMed: Lesca 2013 - - - - - - - - - EE see paper; ..., continuous spike and wave during slow-wave sleep syndrome 1 1 Johan den Dunnen
00296808 Pat3 PubMed: Lesca 2013 - - - - - - - - - EE see paper; ..., Landau-Kleffner syndrome 1 1 Johan den Dunnen
00296809 Pat4 PubMed: Lesca 2013 - - - - - - - - - EE see paper; ..., continuous spike and wave during slow-wave sleep syndrome 1 1 Johan den Dunnen
00296810 Pat5 PubMed: Lesca 2013 - - - - - - - - - EE see paper; ..., Landau-Kleffner syndrome 1 1 Johan den Dunnen
00296811 Pat6 PubMed: Lesca 2013 - - - - - - - - - EE see paper; ..., continuous spike and wave during slow-wave sleep syndrome 1 1 Johan den Dunnen
00296812 Pat7 PubMed: Lesca 2013 - - - - - - - - - EE see paper; ..., Rolandic epilepsy 1 1 Johan den Dunnen
00296813 Pat8 PubMed: Lesca 2013 - - - - - - - - - EE see paper; ..., continuous spike and wave during slow-wave sleep syndrome 1 1 Johan den Dunnen
00301260 - PubMed: Minardi 2020 - F - Italy - - - - - EIEE - 1 1 Francesca Bisulli
00301265 - PubMed: Minardi 2020 - F - - - - - - - EIEE - 1 1 Francesca Bisulli
00301266 - PubMed: Minardi 2020 - F - - - - - - - EIEE - 1 1 Francesca Bisulli
00305978 Pat9 PubMed: Johannesen 2020 3-generation family, 1 affected, father epilepsy, died from brain hemorrhage M - Denmark - - - - - epilepsy - 1 1 Johan den Dunnen
00307142 Patient 06 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00307145 Patient 21 PubMed: Mendonca 2021 - M no Brazil - - - - - RB1 Unilateral 1 1 Vanessa Mendonça
00307796 UK10K_FINDWGA5411663 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00310737 GRINdb-72 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310738 GRINdb-73 PubMed: Lemke 2013 copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., no developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310739 GRINdb-74 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., mild developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310740 GRINdb-75 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., seizures 1 1 Johan den Dunnen
00310741 GRINdb-76 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree, seizures 1 1 Johan den Dunnen
00310742 GRINdb-77 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree, seizures 1 1 Johan den Dunnen
00310743 GRINdb-79 PubMed: Conroy 2014 copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures 1 1 Johan den Dunnen
00310744 GRINdb-80 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., no developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310745 GRINdb-81 PubMed: Carvill 2013 copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., no developmental delay/intellectual disability 1 1 Johan den Dunnen
00310746 GRINdb-82 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree, seizures 1 1 Johan den Dunnen
00310747 GRINdb-84 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree, seizures 1 1 Johan den Dunnen
00310748 GRINdb-86 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310749 GRINdb-87 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree, seizures 1 1 Johan den Dunnen
00310750 GRINdb-88 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, no seizures 1 1 Johan den Dunnen
00310751 GRINdb-89 PubMed: Farwell 2015 copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., 1 1 Johan den Dunnen
00310752 GRINdb-90 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310753 GRINdb-91 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, no seizures 1 1 Johan den Dunnen
00310754 GRINdb-93 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310755 GRINdb-94 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310756 GRINdb-95 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree, seizures 1 1 Johan den Dunnen
00310757 GRINdb-96 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310758 GRINdb-97 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., 1 1 Johan den Dunnen
00310759 - PubMed: Retterer 2015 - - - - - - - - - NDD see paper; ..., seizures 1 1 Johan den Dunnen
00310760 GRINdb-99 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., seizures 1 1 Johan den Dunnen
00310761 GRINdb-100 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree, seizures 1 1 Johan den Dunnen
00310762 GRINdb-102 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310763 GRINdb-103 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310764 GRINdb-105 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree, seizures 1 1 Johan den Dunnen
00310765 GRINdb-106 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310766 GRINdb-107 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310767 GRINdb-108 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree, seizures 1 1 Johan den Dunnen
00310768 GRINdb-110 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., moderate developmental delay/intellectual disability, no seizures 1 1 Johan den Dunnen
00310769 GRINdb-111 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree 1 1 Johan den Dunnen
00310770 GRINdb-112 PubMed: Lemke 2013 copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., no developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310771 GRINdb-113 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree, seizures 1 1 Johan den Dunnen
00310772 GRINdb-114 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., 1 1 Johan den Dunnen
00310773 GRINdb-118 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., 1 1 Johan den Dunnen
00310774 Pat6245 PubMed: Zhang 2015 - F - China - - - - - NDD see paper; ..., severe developmental delay/intellectual disability; 5y-partial seizures, electrical status epilepticus in sleep 1 1 Johan den Dunnen
00310775 GRINdb-121 PubMed: Dyment 2015 copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., seizures 1 1 Johan den Dunnen
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