All individuals with variants in gene GRIN1

72 entries on 1 page. Showing entries 1 - 72.
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VIP     
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00024271 - PubMed: Hamdan 2011 - F - Canada - >10y - - - ID moderate intellectual disability, no epilepsy, CT-scan normal, neurological examination normal 1 1 Johan den Dunnen
00024272 - PubMed: Hamdan 2011 - M - Canada - >07y06m - - - ID severe intellectual disability, partial complex epilepsy, MRI normal, hypotonia 1 1 Johan den Dunnen
00024275 - PubMed: Hamdan 2011 285 controls - - Canada French - - - - Healthy/Control - 6 285 Johan den Dunnen
00024276 - PubMed: Hamdan 2011 50 cases - - Canada French - - - - ID nonsyndromic intellectual disability (NSID), no dysmorphic features, birth weight/postnatal growth in normal limits, birth normal head circumference 11 50 Johan den Dunnen
00039399 - PubMed: Bosch 2016, Journal: Bosch 2016 - F yes - - - - - - CVI, ID see paper; ... 1 1 Danielle Bosch
00080181 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - M yes Morocco - - - - - MRT Neonatal hypotonia, psychomotor delay, intellectual deficiency 1 1 Gaetan Lesca
00100436 - - - F no Israel Jewish-Ashkenazi - - - - EIEE severe early infantile encephalopathy (global) hyperkinetic stereotypic movements "oculogyric like" eye movements 1 1 Ronen Spiegel
00104570 - - - M no Czech Republic white - - - - NDHMSD severe intellectual disability, motor developmental delay, growth retardation, microcephaly, heart defect, hypotonia 1 1 Jana Paderova
00116950 S_425:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00116981 S_497:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00117103 S_737:0/1:TYPICAL_RE PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 194 RE cases - - - - - - - - epilepsy, Rolandic typical Rolandic epilepsy 1 1 Dheeraj Bobbili
00117118 S_79:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00294817 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 187 Mohammed Faruq
00296764 APN-63 PubMed: Redin 2014 analysis 106 patients; 3-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - ID severe intellectual disability 1 1 Johan den Dunnen
00302997 Pat42 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy; age onset adolescent 1 1 Johan den Dunnen
00302998 Pat43 PubMed: Helbig 2016 - - - United States - - - - - seizures Unclassified epilepsy; age onset childhood 1 1 Johan den Dunnen
00305240 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 9 Mohammed Faruq
00310670 GRINdb-1 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, no seizures 1 1 Johan den Dunnen
00310671 GRINdb-2 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, no seizures 1 1 Johan den Dunnen
00310672 GRINdb-3 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310673 GRINdb-4 - copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310869 GRINdb-226 PubMed: Ohba 2015 copied from {DB:GRIN} F - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310870 GRINdb-227 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, no seizures 1 1 Johan den Dunnen
00310871 GRINdb-228 PubMed: Lemke 2016 copied from {DB:GRIN} F - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310872 GRINdb-229 PubMed: Ohba 2015 copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310873 GRINdb-232 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, no seizures 1 1 Johan den Dunnen
00310874 GRINdb-233 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, no seizures 1 1 Johan den Dunnen
00310875 GRINdb-234 PubMed: Ohba 2015 copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310876 GRINdb-235 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310877 GRINdb-236 PubMed: Epi4K 2013 copied from {DB:GRIN} F - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310878 GRINdb-237 PubMed: Ohba 2015 copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310879 GRINdb-238 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310880 GRINdb-239 PubMed: Lemke 2016 copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, no seizures 1 1 Johan den Dunnen
00310881 GRINdb-240 PubMed: Lemke 2016 copied from {DB:GRIN} F - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, no seizures 1 1 Johan den Dunnen
00310882 GRINdb-241 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310883 GRINdb-242 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310884 GRINdb-243 - copied from {DB:GRIN} F - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310885 GRINdb-244 PubMed: Lemke 2016 copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310886 GRINdb-245 PubMed: Lemke 2016 copied from {DB:GRIN} F - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310956 GRINdb-340 PubMed: Lemke 2016 copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., seizures 1 1 Johan den Dunnen
00310957 GRINdb-341 PubMed: Lemke 2016 copied from {DB:GRIN} F - - - - - - - NDD see paper; ..., seizures 1 1 Johan den Dunnen
00310958 GRINdb-342 PubMed: Lemke 2016 copied from {DB:GRIN} F - - - - - - - NDD see paper; ..., seizures 1 1 Johan den Dunnen
00310959 GRINdb-343 PubMed: Lemke 2016 copied from {DB:GRIN} F - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310960 GRINdb-344 PubMed: Lemke 2016 copied from {DB:GRIN} F - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures 1 1 Johan den Dunnen
00310961 GRINdb-345 - copied from {DB:GRIN} F - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310962 GRINdb-346 - copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310963 GRINdb-347 - copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310964 - PubMed: Retterer 2015 - F - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310970 - PubMed: Retterer 2015 - - - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures 1 1 Johan den Dunnen
00310971 GRINdb-355 PubMed: Rossi 2017 copied from {DB:GRIN} F - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures 1 1 Johan den Dunnen
00310972 GRINdb-356 PubMed: Rossi 2017 copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures 1 1 Johan den Dunnen
00310974 GRINdb-360 - copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures 1 1 Johan den Dunnen
00310982 GRINdb-368 Ortega-Moreno copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., 1 1 Johan den Dunnen
00310984 GRINdb-370 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., 1 1 Johan den Dunnen
00310985 GRINdb-371 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., 1 1 Johan den Dunnen
00310990 GRINdb-376 PubMed: Tan 2017 copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability 1 1 Johan den Dunnen
00310991 GRINdb-377 - copied from {DB:GRIN} M - - - - - - - NDD see paper; ..., developmental delay/intellectual disability of unknown degree, no seizures 1 1 Johan den Dunnen
00310992 GRINdb-378 - copied from {DB:GRIN} F - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, no seizures 1 1 Johan den Dunnen
00310993 GRINdb-379 - copied from {DB:GRIN} F - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, no seizures 1 1 Johan den Dunnen
00310997 GRINdb-383 - copied from {DB:GRIN} F - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00310998 GRINdb-384 - copied from {DB:GRIN} F - - - - - - - NDD see paper; ..., severe/profound developmental delay/intellectual disability, seizures 1 1 Johan den Dunnen
00311009 GRINdb-395 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., seizures 1 1 Johan den Dunnen
00311010 GRINdb-396 - copied from {DB:GRIN} - - - - - - - - NDD see paper; ..., seizures 1 1 Johan den Dunnen
00314891 Trio72 PubMed: Zhu 2015 - F - United States - - - - - ? Developmental delay, sleep disturbances, hypotonia, abnormal gait, chronic constipation, microcephaly, abnormal limb posturing, arachnodactyly, no true language skills, Angelman-like phenotype, no seizures, no regression. 1 1 Johan den Dunnen
00325407 Pat20 PubMed: Hong 2020 - M - Taiwan - - - - - ? 2m-onset seizures; infantile spasms; global developmental delay 1 1 Johan den Dunnen
00412365 Fam9 PubMed: Halvardson 2016 - M - Sweden - - - - - NDD mild intellectual disability, drug resitent epilepsy, mild left sided hemiparesis 1 1 Johan den Dunnen
00431198 Pat1 PubMed: Brock 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - United Kingdom (Great Britain) - - - - NDD severe developmental delay; birth/prenatal-seizures; no refractory seizures; hypertonia; long palpebral fissures, shallow orbits, overlapping fingers; OFC 41.5 cm (-5.2 SD); dysgyria bilateral diffuse ( anterior>posterior); reduced white matter, enlarged lateral ventricles, hypoplastic corpus callosum, abnormal myelination in brainstem, dysmorphic hippocampus 1 1 Johan den Dunnen
00431199 Pat2 PubMed: Brock 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - United Kingdom (Great Britain) - - - - NDD severe developmental delay; 4m-seizures, absences, drops, tonic extensions; refractory seizures; spastic quadriplegia; thin upper lips, anteverted nostrils, high frontal hairline, wide nasal bridge; OFC 0.4-2nd percentile; dysgyria bilateral diffuse ( anterior>posterior); reduced white matter, enlarged lateral ventricles, hypoplastic corpus callosum, dysmorphic basal ganglia 1 1 Johan den Dunnen
00431200 Pat3 PubMed: Brock 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M - - - - - - - NDD analysis 25wg; prominent philtrum, broad nasal bridge, anteverted nostrils; low brain weight, OFC -2 SD; dysgyria bilateral diffuse; enlarged third ventricle, absent gyration, agenesis corpus callosum 1 1 Johan den Dunnen
00431201 Pat4 PubMed: Brock 2023 2-generation family, 1 affected fetus, unaffected heterozygous carrier parents - - - - - - - - NDD analysis 30wg; marked nasal ridge, prominent philtrum, flat face, camptodactyly; low brain weight; dysgyria bilateral diffuse; enlarged lateral ventricles, operculation of sylvian fissure, enlarged subarachnoid spaces 1 1 Johan den Dunnen
00431205 Pat8 PubMed: Brock 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F - - - - - - - NDD early postnatal-seizures, status epilepticus; refractory seizures; no dysmorphism; brain weight within normal limits; microcephaly with simplified gyral pattern; bilateral symmetric subcortical atrophy with periventricular leucoencephalopathy 1 1 Johan den Dunnen
00448194 Pat132 PubMed: Poli 2024 - F - Chile - - - - - ? intellectual disability-severe; seizure; feeding difficulties; short stature; scoliosis 1 1 Johan den Dunnen
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