All individuals with variants in gene GABRA1

25 entries on 1 page. Showing entries 1 - 25.
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00074449 - PubMed: Kodera 2016, Journal: Kodera 2016 - M no (Japan) - - - - - EIEE19 4y old male with infantile epilepsy. 1 1 Bernt Popp
00074450 - PubMed: Carvill 2014, Journal: Carvill 2014 - F no - - - - - - EIEE19 7y old female patient with seizures and moderate ID. 1 1 Bernt Popp
00074451 - PubMed: Carvill 2014, Journal: Carvill 2014 - M no - - - - - - EIEE19 18 months old male with seizures staring with 11 months and moderate ID. Calcified subependymal nodule in left lateral ventricle. 1 1 Bernt Popp
00074452 - PubMed: Carvill 2014, Journal: Carvill 2014 - F no - - - - - - EIEE19 2y old female with seizure onset at 8m of age and mild developmental delay. 1 1 Bernt Popp
00074453 - PubMed: Carvill 2014, Journal: Carvill 2014 - M no - - - - - - EIEE19 18y old male with seizures tarting from 8m of age and mild ID. 1 1 Bernt Popp
00074454 - PubMed: Kodera 2016, Journal: Kodera 2016 - F no (Japan) - - - - - EIEE19 8y old female with seizures and encephalopathy with onset at age 4m and severe ID with regression. 1 1 Bernt Popp
00074455 - PubMed: Kodera 2016, Journal: Kodera 2016 - F no (Japan) - - - - - EIEE19 6y old female with seizure onset at age 1m and severe ID. 1 1 Bernt Popp
00074456 - PubMed: Kodera 2016, Journal: Carvill 2014 - M no (Japan) - 01y - - - EIEE19 Male patient with severe seizures from 1.5m of age and severe ID who died at age of 1y, 1 1 Bernt Popp
00074457 - PubMed: Kodera 2016, Journal: Carvill 2014 - F no (Japan) - - - - - EIEE19 9y old female with seizres from age 6m and sever ID. 1 1 Bernt Popp
00074458 - PubMed: Kodera 2016, Journal: Carvill 2014 - M no (Japan) - - - - - EIEE19 10y old male with seizure onset at age 7m and sever ID. 1 1 Bernt Popp
00074459 - Journal: McRae 2016 - F ? - - - - - - DD Female patient with delayed speech and language development,moderate global developmental delay and minor dysmorphic features. 1 1 Bernt Popp
00074460 - Journal: McRae 2016 - F ? - - - - - - DD Female patient with seizures moderate global developmental delay and macrocephaly 1 1 Bernt Popp
00074461 - PubMed: Epi4K Consortium. 2013, Journal: Epi4K Consortium. 2013 - M no - - - - - - EIEE19 Male patient with seizure onset at age 1m and delayed development. 1 1 Bernt Popp
00074462 - PubMed: Maljevic 2006, Journal: Maljevic 2006 - M no Germany white - - - - epilepsy 18y old male patient with childhood absence epilepsy starting at age 3y. 1 1 Bernt Popp
00074463 - PubMed: Iossifov 2014, Journal: Iossifov 2014 - M no - - - - - - DD Male patient wit autism spectrum disorder and developmental delay. 1 1 Bernt Popp
00074464 - - - M no Germany white - - - - EIEE19 1y2m old male patient with Williams-Beuren syndrome, early infantile epileptic encephalopathy with seizures from age 5m and delayed develompent. 1 1 Bernt Popp
00074465 - PubMed: Cossette 2002, Journal: Cossette 2002 - - no Canada white - - - - EJM The clinical features of the epileptic syndrome are homogeneous in all 8 affected members of the family over four generations. . We assessed individuals I-01 and II-03 indirectly via individual II-04. The phenotype of individuals I-01 and II-03 seems to be compatible with JME. Individual IV-02 has EEG abnormalities (photosensitivity), but does not present clinical seizures. 1 8 Bernt Popp
00074466 - PubMed: Lachance-Touchette 2011, Journal: Lachance-Touchette 2011 - - no (Canada) white - - - - EIG Four affected family members over two generations with idiopathic generalizedepilepsy. 1 4 Bernt Popp
00074467 - PubMed: Lachance-Touchette 2011, Journal: Lachance-Touchette 2011 - - no Canada white - - - - EIG Four affected individuals over two generations with idiopathic generalizedepilepsy. 1 4 Bernt Popp
00074468 - PubMed: Klassen 2011, Journal: Klassen 2011 - ? - - - - - - - EIG Individual with sporadic idiopathic epilepsy not further described. 1 1 Bernt Popp
00116905 S_315:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00117111 S_75:0/1:CONTROL PubMed: Bobbili 2018, Journal: Bobbili 2018 individual from 567 controls - - - - - - - - Healthy/Control - 1 1 Dheeraj Bobbili
00438282 273560 - - F no Germany - - - - - NEDSWMA;CPSQ1 Intellectual disability, Heterotropia, Seizure, Secondary microcephaly 1 1 Andreas Laner
00440414 PED2237.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00455761 Pat1 PubMed: Salinas 2020 patient F - - - - - - - ? - 1 1 Johan den Dunnen
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